Syndromic disease

MONDO:0002254

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

Also known as: cluster, symptom, clusters, symptom, symptom cluster, symptom clusters, syndrome, syndrome associated with disease or disorder, syndromes, syndromic disease

7133 clinical trials for this condition and its sub-types, 25 tagged with Syndromic disease itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Disease by body system or component (93739)

Sub-types of Syndromic disease

Neoplastic syndrome 1 trial · 1,430 incl. sub-types
11 sub-types
- Hereditary neoplastic syndrome 60 trials · 731 incl. sub-types Sub-types →
- Myelodysplastic syndrome 653 trials · 671 incl. sub-types Sub-types →
- Ectopic ACTH secretion syndrome 15 trials
- Autoimmune lymphoproliferative syndrome 11 trials · 12 incl. sub-types Sub-types →
- Ectopic hormone secretion syndrome associated with neoplasia 0 trials · 5 incl. sub-types Sub-types →
- Tumor lysis syndrome 3 trials
- Zollinger-Ellison syndrome 2 trials
- Pancoast syndrome 1 trial
- Carney triad 0 trials
- Meigs syndrome 0 trials
- Growing teratoma syndrome 0 trials
Obstructive sleep apnea syndrome 516 trials · 517 incl. sub-types
1 sub-type
- Complex sleep apnea 1 trial
Acute respiratory distress syndrome 298 trials · 417 incl. sub-types
2 sub-types
- Adult acute respiratory distress syndrome 246 trials
- Pediatric acute respiratory distress syndrome 14 trials · 123 incl. sub-types Sub-types →
Abdominal obesity-metabolic syndrome 301 trials · 357 incl. sub-types
5 sub-types
- Metabolic syndrome X 338 trials
- LIPE-related familial partial lipodystrophy 0 trials
- Abdominal obesity-metabolic syndrome 3 0 trials
- Abdominal obesity-metabolic syndrome 4 0 trials
- Abdominal obesity-metabolic syndrome quantitative trait locus 2 0 trials
Acute coronary syndrome 298 trials
Fibromyalgia 279 trials
Dry eye syndrome 253 trials · 254 incl. sub-types
1 sub-type
- Xerophthalmia 2 trials
Toxic shock syndrome 224 trials
2 sub-types
- Staphylococcal toxic-shock syndrome 1 trial
- Streptococcal toxic-shock syndrome 1 trial
Irritable bowel syndrome 221 trials
Autoinflammatory syndrome 21 trials · 207 incl. sub-types
37 sub-types
- Sarcoidosis 61 trials · 84 incl. sub-types Sub-types →
- Periodic fever syndrome 2 trials · 25 incl. sub-types Sub-types →
- Systemic-onset juvenile idiopathic arthritis 25 trials
- Type 1 interferonopathy 4 trials · 21 incl. sub-types Sub-types →
- Autoinflammatory syndrome of childhood 0 trials · 19 incl. sub-types Sub-types →
- VEXAS syndrome 18 trials
- Adult-onset Still disease 12 trials
- Pyoderma gangrenosum 10 trials Sub-types →
- Idiopathic recurrent pericarditis 8 trials
- PFAPA syndrome 6 trials
- Chronic recurrent multifocal osteomyelitis 3 trials · 4 incl. sub-types Sub-types →
- SAPHO syndrome 3 trials
- Schnitzler syndrome 1 trial
- Cherubism 1 trial Sub-types →
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome 0 trials
- F12-associated cold autoinflammatory syndrome 0 trials
- PAPASH syndrome 0 trials
- Pelger-Huet-like anomaly and episodic fever with abdominal pain 0 trials
- SAMD9L-associated autoinflammatory syndrome 0 trials
- Sharpin-related autoinflammatory syndrome 0 trials
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 trials
- Autoinflammatory disease, X-linked 0 trials
- Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 trials Sub-types →
- Autoinflammatory disease, systemic, with vasculitis 0 trials
- Autoinflammatory syndrome with immunodeficiency 0 trials
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
- Autoinflammatory syndrome, familial, Behcet-like 0 trials Sub-types →
- Autoinflammatory syndrome due to TBK1 deficiency 0 trials
- Early-onset pulmonary and cutaneous vasculitis 0 trials
- Granulomatous autoinflammatory syndrome of childhood 0 trials
- Infantile onset panniculitis with uveitis and systemic granulomatosis 0 trials
- Magic syndrome 0 trials
- Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
- Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 0 trials
- Psoriasis 14, pustular 0 trials
- Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 0 trials
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 trials
Psoriatic arthritis 188 trials · 201 incl. sub-types
1 sub-type
- Psoriasis-related juvenile idiopathic arthritis 15 trials
Polycystic ovary syndrome 200 trials
Sjogren syndrome 166 trials
Temporomandibular joint dysfunction syndrome 85 trials
Progressive supranuclear palsy 73 trials · 77 incl. sub-types
4 sub-types
- Supranuclear palsy, progressive, 1 5 trials
- Atypical progressive supranuclear palsy syndrome 1 trial · 4 incl. sub-types Sub-types →
- Supranuclear palsy, progressive, 2 0 trials
- Supranuclear palsy, progressive, 3 0 trials
Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
Syndromic dyslipidemia 0 trials · 73 incl. sub-types
29 sub-types
- CHILD syndrome 37 trials
- Smith-Lemli-Opitz syndrome 6 trials
- Cerebrotendinous xanthomatosis 6 trials
- Familial lipoprotein lipase deficiency 6 trials
- Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
- GM1 gangliosidosis type 1 3 trials
- Sjogren-Larsson syndrome 3 trials
- Nephrotic syndrome 14 3 trials
- Apparent mineralocorticoid excess 1 trial
- Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
- Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types Sub-types →
- Rhizomelic chondrodysplasia punctata type 1 1 trial
- CHIME syndrome 0 trials
- Krabbe disease due to saposin A deficiency 0 trials
- PHARC syndrome 0 trials
- Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
- Familial apolipoprotein C-II deficiency 0 trials
- Fatty acid hydroxylase-associated neurodegeneration 0 trials
- Hereditary spastic paraplegia 39 0 trials Sub-types →
- Hyperlipoproteinemia, type 1D 0 trials
- Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
- Intellectual disability, autosomal recessive 53 0 trials
- Lipoprotein glomerulopathy 0 trials
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
- Sea-blue histiocyte syndrome 0 trials
- Sitosterolemia 0 trials Sub-types →
Nephrotic syndrome 47 trials · 71 incl. sub-types
4 sub-types
- Idiopathic nephrotic syndrome 13 trials · 24 incl. sub-types Sub-types →
- Familial nephrotic syndrome 0 trials · 22 incl. sub-types Sub-types →
- Steroid-resistant nephrotic syndrome 5 trials · 15 incl. sub-types Sub-types →
- Nephrotic syndrome ocular anomalies 0 trials
Cushing syndrome 42 trials · 66 incl. sub-types
2 sub-types
- Endogenous Cushing syndrome 3 trials · 38 incl. sub-types Sub-types →
- Exogenous Cushing syndrome 1 trial
Myotonic syndrome 11 trials · 61 incl. sub-types
5 sub-types
- Myotonic dystrophy 56 trials · 57 incl. sub-types Sub-types →
- Nondystrophic myotonia 4 trials
- Laryngospasm, severe neonatal episodic 1 trial
- Paramyotonia congenita of Von Eulenburg 1 trial
- Potassium-aggravated myotonia 0 trials Sub-types →
Antiphospholipid syndrome 58 trials · 59 incl. sub-types
4 sub-types
- Primary antiphospholipid syndrome 4 trials
- Catastrophic antiphospholipid syndrome 1 trial
- Familial antiphospholipid syndrome 0 trials
- Secondary antiphospholipid syndrome 0 trials Sub-types →
Substance withdrawal syndrome 30 trials · 59 incl. sub-types
3 sub-types
- Neonatal abstinence syndrome 18 trials
- Alcohol withdrawal 11 trials · 13 incl. sub-types Sub-types →
- Baclofen withdrawal syndrome 0 trials
Hemophagocytic syndrome 38 trials · 58 incl. sub-types
2 sub-types
- Secondary hemophagocytic lymphohistiocytosis 15 trials · 24 incl. sub-types Sub-types →
- Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types Sub-types →
Multiple organ dysfunction syndrome 50 trials
Hypereosinophilic syndrome 19 trials · 49 incl. sub-types
8 sub-types
- Pulmonary eosinophilia 30 trials Sub-types →
- Idiopathic hypereosinophilic syndrome 1 trial Sub-types →
- Secondary hypereosinophilic syndrome 0 trials · 1 incl. sub-types Sub-types →
- Disseminated eosinophilic collagen disease 0 trials
- Eosinophilia-myalgia syndrome 0 trials
- Episodic angioedema with eosinophilia 0 trials
- Hypereosinophilia of undetermined significance 0 trials
- Primary hypereosinophilic syndrome 0 trials
Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types
25 sub-types
- Ehlers-Danlos syndrome, hypermobility type 15 trials
- Joint laxity, familial 14 trials
- Ehlers-Danlos syndrome, vascular type 6 trials Sub-types →
- Bethlem myopathy 2 0 trials
- COL1A1-related Ehlers-Danlos syndrome 0 trials Sub-types →
- COL1A2-related Ehlers-Danlos syndrome 0 trials Sub-types →
- Ehlers-Danlos syndrome due to tenascin-X deficiency 0 trials
- Ehlers-Danlos syndrome, Beasley-Cohen type 0 trials
- Ehlers-Danlos syndrome, arthrochalasia type 0 trials Sub-types →
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified 0 trials
- Ehlers-Danlos syndrome, classic type 0 trials Sub-types →
- Ehlers-Danlos syndrome, classic-like, 2 0 trials
- Ehlers-Danlos syndrome, classic-like, 3 0 trials
- Ehlers-Danlos syndrome, dermatosparaxis type 0 trials
- Ehlers-Danlos syndrome, fibronectinemic type 0 trials
- Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 trials
- Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
- Ehlers-Danlos syndrome, periodontitis type 0 trials Sub-types →
- Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
- Ehlers-Danlos syndrome, vascular-like type 0 trials
- Ehlers-Danlos/osteogenesis imperfecta syndrome 0 trials Sub-types →
- X-linked Ehlers-Danlos syndrome 0 trials
- Brittle cornea syndrome 0 trials Sub-types →
- Spondylodysplastic Ehlers-Danlos syndrome 0 trials
Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types
120 sub-types
- Dyskeratosis congenita 12 trials Sub-types →
- CTSC-related disorder 0 trials · 11 incl. sub-types Sub-types →
- Cardiofaciocutaneous syndrome 7 trials Sub-types →
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
- Incontinentia pigmenti 3 trials
- Ectodermal dysplasia WNT10A related 0 trials · 2 incl. sub-types Sub-types →
- Trichothiodystrophy 2 trials Sub-types →
- Cronkhite-Canada syndrome 1 trial
- Ellis-van Creveld syndrome 1 trial Sub-types →
- Cartilage-hair hypoplasia 1 trial Sub-types →
- Hypohidrotic ectodermal dysplasia 1 trial Sub-types →
- Trichorhinophalangeal syndrome 0 trials · 1 incl. sub-types Sub-types →
- ADULT syndrome 0 trials
- AREDYLD syndrome 0 trials
- Ackerman syndrome 0 trials
- Barber-Say syndrome 0 trials
- Bartsocas-Papas syndrome 1 0 trials
- Brunoni syndrome 0 trials
- Böök syndrome 0 trials
- CHIME syndrome 0 trials
- Clouston syndrome 0 trials
- Curly hair - acral keratoderma - caries syndrome 0 trials
- Dahlberg-Borer-Newcomer syndrome 0 trials
- Dubowitz syndrome 0 trials
- EEM syndrome 0 trials
- Fontaine progeroid syndrome 0 trials
- Fried's tooth and nail syndrome 0 trials
- GAPO syndrome 0 trials
- Ito hypomelanosis 0 trials
- Johnson neuroectodermal syndrome 0 trials
- KID syndrome 0 trials Sub-types →
- Lelis syndrome 0 trials
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 0 trials
- Marshall syndrome 0 trials
- Naegeli-Franceschetti-Jadassohn syndrome 0 trials
- Rapp-Hodgkin syndrome 0 trials
- Schinzel-Giedion syndrome 0 trials
- Stern-Lubinsky-Durrie syndrome 0 trials
- Teebi-Shaltout syndrome 0 trials
- Toriello-Lacassie-Droste syndrome 0 trials
- Acrofacial dysostosis, Weyers type 0 trials
- Alopecia - contractures - dwarfism - intellectual disability syndrome 0 trials
- Alves Castelo dos Santos syndrome 0 trials
- Amelocerebrohypohidrotic syndrome 0 trials
- Ameloonychohypohidrotic syndrome 0 trials
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
- Anonychia with flexural pigmentation 0 trials
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 trials
- Arthrogryposis-ectodermal dysplasia-other anomalies syndrome 0 trials
- Autosomal dominant palmoplantar keratoderma and congenital alopecia 0 trials
- Autosomal dominant trichoodontoonychodysplasia-syndactyly 0 trials
- Autosomal recessive palmoplantar keratoderma and congenital alopecia 0 trials
- Blepharocheilodontic syndrome 0 trials Sub-types →
- Cataract-hypertrichosis-intellectual disability syndrome 0 trials
- Cerebellar ataxia-ectodermal dysplasia syndrome 0 trials
- Chondroectodermal dysplasia with night blindness 0 trials
- Choroidal atrophy-alopecia syndrome 0 trials
- Circumscribed palmoplantar hypokeratosis 0 trials
- Cleft lip/palate-ectodermal dysplasia syndrome 0 trials
- Conductive deafness-ptosis-skeletal anomalies syndrome 0 trials
- Congenital hypotrichosis with juvenile macular dystrophy 0 trials
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome 0 trials
- Cranioectodermal dysplasia 0 trials Sub-types →
- Dermatoosteolysis, Kirghizian type 0 trials
- Dermatopathia pigmentosa reticularis 0 trials
- Dermo-odonto dysplasia 0 trials
- Dermotrichic syndrome 0 trials
- Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 trials
- Ectodermal dysplasia 13, hair/tooth type 0 trials
- Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 trials
- Ectodermal dysplasia 15, hypohidrotic/hair type 0 trials
- Ectodermal dysplasia 17 with or without limb malformations 0 trials
- Ectodermal dysplasia 5, hair/nail type 0 trials
- Ectodermal dysplasia Bartalos type 0 trials
- Ectodermal dysplasia alopecia preaxial polydactyly 0 trials
- Ectodermal dysplasia arthrogryposis diabetes mellitus 0 trials
- Ectodermal dysplasia blindness 0 trials
- Ectodermal dysplasia margarita type 0 trials
- Ectodermal dysplasia neurosensory deafness 0 trials
- Ectodermal dysplasia with natal teeth, Turnpenny type 0 trials
- Ectodermal dysplasia, trichoodontoonychial type 0 trials
- Ectodermal dysplasia-blindness syndrome 0 trials
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 0 trials
- Ectodermal dysplasia-sensorineural deafness syndrome 0 trials
- Ectodermal dysplasia-syndactyly syndrome 0 trials Sub-types →
- Epidermolysis bullosa simplex due to plakophilin deficiency 0 trials
- Focal facial dermal dysplasia 0 trials Sub-types →
- Gingival fibromatosis-hypertrichosis syndrome 0 trials
- Hidrotic ectodermal dysplasia, Christianson-Fourie type 0 trials
- Hidrotic ectodermal dysplasia, Halal type 0 trials
- Hypertrichosis cubiti-short stature syndrome 0 trials
- Hypertrichosis lanuginosa congenita 0 trials Sub-types →
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0 trials
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 0 trials
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 0 trials
- Jones hersh yusk syndrome 0 trials
- Limb-mammary syndrome 0 trials
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 0 trials
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0 trials
- Oculodentodigital dysplasia 0 trials Sub-types →
- Oculoosteocutaneous syndrome 0 trials
- Oculotrichodysplasia 0 trials
- Odonto-onycho dysplasia-alopecia syndrome 0 trials
- Odonto-tricho-ungual-digito-palmar syndrome 0 trials
- Odontomicronychial dysplasia 0 trials
- Odontotrichomelic syndrome 0 trials
- Pili torti-onychodysplasia syndrome 0 trials
- Pilodental dysplasia-refractive errors syndrome 0 trials
- Pure hair and nail ectodermal dysplasia 0 trials Sub-types →
- Scalp-ear-nipple syndrome 0 trials
- Taurodontia-absent teeth-sparse hair syndrome 0 trials
- Tooth and nail syndrome 0 trials
- Tricho-dento-osseous syndrome 0 trials
- Tricho-oculo-dermo-vertebral syndrome 0 trials
- Tricho-retino-dento-digital syndrome 0 trials
- Trichodental syndrome 0 trials
- Trichodermodysplasia-dental alterations syndrome 0 trials
- Trichodysplasia-amelogenesis imperfecta syndrome 0 trials
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 trials
- Trichoodontoonychial dysplasia 0 trials
Alpha 1-antitrypsin deficiency 44 trials
Tourette syndrome 41 trials
Guillain-Barre syndrome 23 trials · 39 incl. sub-types
11 sub-types
- Polyneuropathy, inflammatory demyelinating, chronic 15 trials
- Guillain-Barre syndrome, familial 1 trial
- Acute inflammatory demyelinating polyradiculoneuropathy 1 trial
- Autoimmune autonomic ganglionopathy 1 trial
- Acute motor and sensory axonal neuropathy 0 trials
- Acute motor axonal neuropathy 0 trials
- Acute pure sensory neuropathy 0 trials
- Acute sensory ataxic neuropathy 0 trials
- Facial diplegia with paresthesias 0 trials
- Paraparetic variant of Guillain-Barre syndrome 0 trials
- Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome 0 trials
Type 2 collagenopathy 0 trials · 39 incl. sub-types
14 sub-types
- Dysplasia of the proximal femoral epiphyses 0 trials · 36 incl. sub-types Sub-types →
- Stickler syndrome type 1 3 trials Sub-types →
- Kniest dysplasia 0 trials
- Achondrogenesis type II 0 trials
- Hypochondrogenesis 0 trials
- Multiple epiphyseal dysplasia, Beighton type 0 trials
- Platyspondylic dysplasia, Torrance type 0 trials
- Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
- Spondyloepiphyseal dysplasia congenita 0 trials
- Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
- Spondyloepiphyseal dysplasia, Stanescu type 0 trials
- Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
- Spondylometaphyseal dysplasia, Schmidt type 0 trials
- Spondyloperipheral dysplasia 0 trials
Syndromic intellectual disability 2 trials · 38 incl. sub-types
17 sub-types
- Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
- X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types Sub-types →
- Smith-Magenis syndrome 5 trials
- Rubinstein-Taybi syndrome 3 trials Sub-types →
- Autosomal recessive syndromic intellectual disability 0 trials · 1 incl. sub-types Sub-types →
- Dyneinopathy 0 trials · 1 incl. sub-types Sub-types →
- 2p25.3 microduplication syndrome 0 trials
- 3q27.3 microdeletion syndrome 0 trials
- 7p22.1 microduplication syndrome 0 trials
- 9p13 microdeletion syndrome 0 trials
- 9q31.1q31.3 microdeletion syndrome 0 trials
- 9q33.3q34.11 microdeletion syndrome 0 trials
- AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 trials
- CK syndrome 0 trials
- Aplasia cutis-enamel dysplasia syndrome 0 trials
- Intellectual disability, Buenos-Aires type 0 trials
- Intellectual disability, Wolff type 0 trials
Behcet disease 37 trials
Syndromic agammaglobulinemia 7 trials · 37 incl. sub-types
3 sub-types
- Common variable immunodeficiency 29 trials · 31 incl. sub-types Sub-types →
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
- Transient hypogammaglobulinemia 0 trials Sub-types →
X-linked ichthyosis syndrome 0 trials · 37 incl. sub-types
2 sub-types
- CHILD syndrome 37 trials
- Syndromic recessive X-linked ichthyosis 0 trials
Fragile X syndrome 34 trials
4 sub-types
- Fragile X syndrome type 1 0 trials
- Fragile X syndrome type 2 0 trials
- Fragile X syndrome type 3 0 trials
- Symptomatic form of fragile X syndrome in female carrier 0 trials
Primary ciliary dyskinesia 34 trials
59 sub-types
- Primary ciliary dyskinesia 1 6 trials
- CFAP46-related primary ciliary dyskinesia 0 trials
- Stromme syndrome 0 trials
- Ciliary discoordination due to random ciliary orientation 0 trials
- Ciliary dyskinesia with defective radial spokes 0 trials
- Ciliary dyskinesia with excessively long cilia 0 trials
- Ciliary dyskinesia with transposition of ciliary microtubules 0 trials
- Ciliary dyskinesia, primary, 36, X-linked 0 trials
- Ciliary dyskinesia, primary, 37 0 trials
- Ciliary dyskinesia, primary, 38 0 trials
- Ciliary dyskinesia, primary, 39 0 trials
- Ciliary dyskinesia, primary, 40 0 trials
- Ciliary dyskinesia, primary, 41 0 trials
- Ciliary dyskinesia, primary, 42 0 trials
- Ciliary dyskinesia, primary, 43 0 trials
- Ciliary dyskinesia, primary, 44 0 trials
- Ciliary dyskinesia, primary, 45 0 trials
- Ciliary dyskinesia, primary, 46 0 trials
- Ciliary dyskinesia, primary, 47, and lissencephaly 0 trials
- Ciliary dyskinesia, primary, 48, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 49, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 50 0 trials
- Ciliary dyskinesia, primary, 51 0 trials
- Ciliary dyskinesia, primary, 52 0 trials
- Ciliary dyskinesia, primary, 53 0 trials
- Ciliary dyskinesia, primary, 54 0 trials
- Primary ciliary dyskinesia 10 0 trials
- Primary ciliary dyskinesia 11 0 trials
- Primary ciliary dyskinesia 12 0 trials
- Primary ciliary dyskinesia 13 0 trials
- Primary ciliary dyskinesia 14 0 trials
- Primary ciliary dyskinesia 15 0 trials
- Primary ciliary dyskinesia 16 0 trials
- Primary ciliary dyskinesia 17 0 trials
- Primary ciliary dyskinesia 18 0 trials
- Primary ciliary dyskinesia 19 0 trials
- Primary ciliary dyskinesia 2 0 trials
- Primary ciliary dyskinesia 20 0 trials
- Primary ciliary dyskinesia 21 0 trials
- Primary ciliary dyskinesia 22 0 trials
- Primary ciliary dyskinesia 23 0 trials
- Primary ciliary dyskinesia 24 0 trials
- Primary ciliary dyskinesia 25 0 trials
- Primary ciliary dyskinesia 26 0 trials
- Primary ciliary dyskinesia 27 0 trials
- Primary ciliary dyskinesia 28 0 trials
- Primary ciliary dyskinesia 29 0 trials
- Primary ciliary dyskinesia 3 0 trials
- Primary ciliary dyskinesia 30 0 trials
- Primary ciliary dyskinesia 32 0 trials
- Primary ciliary dyskinesia 33 0 trials
- Primary ciliary dyskinesia 34 0 trials
- Primary ciliary dyskinesia 35 0 trials
- Primary ciliary dyskinesia 4 0 trials
- Primary ciliary dyskinesia 5 0 trials
- Primary ciliary dyskinesia 6 0 trials
- Primary ciliary dyskinesia 7 0 trials
- Primary ciliary dyskinesia 8 0 trials
- Primary ciliary dyskinesia 9 0 trials
Dialysis disequilibrium syndrome 33 trials
Eosinophilic granulomatosis with polyangiitis 33 trials
Exfoliation syndrome 32 trials
Prader-Willi syndrome 31 trials
5 sub-types
- Prader-Willi syndrome due to imprinting mutation 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
- Prader-Willi syndrome due to translocation 0 trials
- Schaaf-Yang syndrome 0 trials
Rett syndrome 31 trials
Complex regional pain syndrome type 1 31 trials
Acute chest syndrome 30 trials
Polymyalgia rheumatica 30 trials
Syndromic congenital heart disease 0 trials · 30 incl. sub-types
8 sub-types
- NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types Sub-types →
- Hypoplastic left heart syndrome 9 trials Sub-types →
- Left ventricular noncompaction 3 trials · 4 incl. sub-types Sub-types →
- Dextrocardia 1 trial
- Char syndrome 0 trials
- Atrial septal defect, coronary sinus type 0 trials
- Congenital heart disease with heterotaxy syndrome 0 trials
- Scimitar syndrome 0 trials
Long QT syndrome 22 trials · 29 incl. sub-types
1 sub-type
- Familial long QT syndrome 1 trial · 11 incl. sub-types Sub-types →
Turner syndrome 28 trials
3 sub-types
- Turner syndrome due to structural X chromosome anomalies 0 trials
- Mixed gonadal dysgenesis 0 trials
- Monosomy X 0 trials Sub-types →
Corticobasal degeneration disorder 28 trials
Familial developmental dysphasia 28 trials
Takayasu arteritis 27 trials
Posterior leukoencephalopathy syndrome 27 trials
Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types
3 sub-types
- Developmental and epileptic encephalopathy 94 1 trial
- Developmental and epileptic encephalopathy, 31A 0 trials
- Developmental and epileptic encephalopathy, 43 0 trials
Piriformis syndrome 25 trials
Mucopolysaccharidosis type 2 24 trials
2 sub-types
- Mucopolysaccharidosis type 2, severe form 1 trial
- Mucopolysaccharidosis type 2, attenuated form 0 trials
Post-cardiac arrest syndrome 24 trials
Noonan syndrome 21 trials · 24 incl. sub-types
14 sub-types
- Noonan syndrome 3 2 trials
- Noonan syndrome 5 1 trial
- Noonan syndrome 1 0 trials
- Noonan syndrome 10 0 trials
- Noonan syndrome 11 0 trials
- Noonan syndrome 13 0 trials
- Noonan syndrome 14 0 trials
- Noonan syndrome 2 0 trials
- Noonan syndrome 4 0 trials
- Noonan syndrome 6 0 trials
- Noonan syndrome 7 0 trials
- Noonan syndrome 8 0 trials
- Noonan syndrome 9 0 trials
- Noonan syndrome 12 0 trials
Central sleep apnea syndrome 21 trials · 23 incl. sub-types
5 sub-types
- Central sleep apnea caused by high altitude 1 trial
- Central sleep apnea due to periodic breathing 1 trial
- Complex sleep apnea 1 trial
- Drug induced central sleep apnea 1 trial
- Primary central sleep apnea syndrome 0 trials
Sick sinus syndrome 22 trials
1 sub-type
- Familial sick sinus syndrome 0 trials Sub-types →
Syndromic craniosynostosis 1 trial · 22 incl. sub-types
40 sub-types
- Acrocephalosyndactyly 0 trials · 13 incl. sub-types Sub-types →
- Crouzon syndrome-acanthosis nigricans syndrome 4 trials
- Antley-Bixler syndrome 2 trials Sub-types →
- Muenke syndrome 2 trials
- Crouzon syndrome 1 trial Sub-types →
- Shprintzen-Goldberg syndrome 1 trial
- Pseudoaminopterin syndrome 1 trial
- Baller-Gerold syndrome 0 trials
- Beare-Stevenson cutis gyrata syndrome 0 trials
- C syndrome 0 trials
- Curry-Jones syndrome 0 trials
- Hunter-McAlpine craniosynostosis 0 trials
- Lowry-MacLean syndrome 0 trials
- Summitt syndrome 0 trials
- TCF12-related craniosynostosis 0 trials
- Weiss-Kruszka syndrome 0 trials
- X-linked intellectual disability-plagiocephaly syndrome 0 trials
- Acrocephalopolydactyly 0 trials
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
- Cardiocranial syndrome, Pfeiffer type 0 trials
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome 0 trials
- Cloverleaf skull-multiple congenital anomalies syndrome 0 trials
- Cranioectodermal dysplasia 0 trials Sub-types →
- Craniomicromelic syndrome 0 trials
- Craniosynostosis 2 0 trials
- Craniosynostosis 4 0 trials
- Craniosynostosis and dental anomalies 0 trials
- Craniosynostosis, Herrmann-Opitz type 0 trials
- Craniosynostosis, Philadelphia type 0 trials
- Craniosynostosis-anal anomalies-porokeratosis syndrome 0 trials
- Craniosynostosis-cataract syndrome 0 trials
- Craniosynostosis-fibular aplasia syndrome 0 trials
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 0 trials
- Craniosynostosis-intracranial calcifications syndrome 0 trials
- Craniotelencephalic dysplasia 0 trials
- Familial scaphocephaly syndrome 0 trials Sub-types →
- Holoprosencephaly-craniosynostosis syndrome 0 trials
- Lethal occipital encephalocele-skeletal dysplasia syndrome 0 trials
- Osteosclerosis-developmental delay-craniosynostosis syndrome 0 trials
- Trigonocephaly-broad thumbs syndrome 0 trials
Marfan syndrome 21 trials
1 sub-type
- Neonatal Marfan syndrome 0 trials
Cardiovascular-kidney-metabolic syndrome 21 trials
Persian gulf syndrome 20 trials
Paraneoplastic syndrome 1 trial · 20 incl. sub-types
8 sub-types
- Paraneoplastic neurologic syndrome 1 trial · 15 incl. sub-types Sub-types →
- Parneoplastic endocrine syndrome 0 trials · 11 incl. sub-types Sub-types →
- Paraneoplastic hematological syndrome 0 trials · 9 incl. sub-types Sub-types →
- Paraneoplastic renal syndrome 0 trials · 3 incl. sub-types Sub-types →
- Bilateral diffuse uveal melanocytic proliferation disease 0 trials
- Paraneoplastic cutaneous syndrome 0 trials Sub-types →
- Paraneoplastic gastrointestinal syndrome 0 trials
- Paraneoplastic rheumatic syndrome 0 trials
Angelman syndrome 19 trials
4 sub-types
- Angelman syndrome due to a point mutation 0 trials
- Angelman syndrome due to imprinting defect in 15q11-q13 0 trials
- Angelman syndrome due to maternal 15q11q13 deletion 0 trials
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 0 trials
Evans syndrome 19 trials
Atypical hemolytic-uremic syndrome 19 trials
4 sub-types
Dumping syndrome 19 trials
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types
3 sub-types
Infantile spasms 8 trials · 19 incl. sub-types
8 sub-types
- Developmental and epileptic encephalopathy, 2 10 trials
- Developmental and epileptic encephalopathy, 1 2 trials
- Developmental and epileptic encephalopathy, 12 0 trials
- Developmental and epileptic encephalopathy, 15 0 trials
- Developmental and epileptic encephalopathy, 27 0 trials
- Developmental and epileptic encephalopathy, 30 0 trials
- Developmental and epileptic encephalopathy, 40 0 trials
- Developmental and epileptic encephalopathy, 5 0 trials
Williams syndrome 18 trials
Cardio-renal syndrome 18 trials
Complex regional pain syndrome type 2 18 trials
Alport syndrome 17 trials · 18 incl. sub-types
5 sub-types
- X-linked Alport syndrome 3 trials
- Autosomal recessive Alport syndrome 2 trials
- Alport syndrome 3b, autosomal recessive 0 trials
- Autosomal dominant Alport syndrome 0 trials
- Digenic Alport syndrome 0 trials
Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types
4 sub-types
- Mucopolysaccharidosis type 3A 7 trials
- Mucopolysaccharidosis type 3B 6 trials
- Mucopolysaccharidosis type 3C 2 trials
- Mucopolysaccharidosis type 3D 0 trials
Fetal alcohol syndrome 17 trials
Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types
16 sub-types
- Progressive familial intrahepatic cholestasis type 1 4 trials
- Progressive familial intrahepatic cholestasis type 2 4 trials
- Cholestasis, progressive familial intrahepatic, 4 2 trials
- Progressive familial intrahepatic cholestasis type 3 2 trials
- Cholestasis, progressive familial intrahepatic, 5 1 trial
- Cholestasis, progressive familial intrahepatic, 6 1 trial
- Hereditary North American Indian childhood cirrhosis 1 trial
- MYO5B-related progressive familial intrahepatic cholestasis 0 trials
- Benign recurrent intrahepatic cholestasis type 1 0 trials
- Cholestasis, progressive familial intrahepatic, 10 0 trials
- Cholestasis, progressive familial intrahepatic, 11 0 trials
- Cholestasis, progressive familial intrahepatic, 12 0 trials
- Cholestasis, progressive familial intrahepatic, 13 0 trials
- Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 trials
- Cholestasis, progressive familial intrahepatic, 8 0 trials
- Cholestasis, progressive familial intrahepatic, 9 0 trials
Usher syndrome 14 trials · 16 incl. sub-types
5 sub-types
- Usher syndrome type 1 0 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 2 2 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 3 0 trials Sub-types →
- Usher syndrome, type 4 0 trials
- Retinitis pigmentosa-deafness syndrome 0 trials
Alagille syndrome 15 trials
3 sub-types
- Alagille syndrome due to 20p12 microdeletion 0 trials
- Alagille syndrome due to a JAG1 point mutation 0 trials
- Alagille syndrome due to a NOTCH2 point mutation 0 trials
Netherton syndrome 15 trials
Arts syndrome 14 trials
Erdheim-Chester disease 14 trials
Compartment syndrome 14 trials
2 sub-types
- Anterior compartment of tibia syndrome 1 trial
- Neonatal compartment syndrome 0 trials
Fetal cytomegalovirus syndrome 14 trials
MELAS syndrome 13 trials · 14 incl. sub-types
10 sub-types
- MELAS syndrome caused by mutation in MTTL1 1 trial
- MELAS syndrome caused by mutation in MTND1 0 trials
- MELAS syndrome caused by mutation in MTND5 0 trials
- MELAS syndrome caused by mutation in MTND6 0 trials
- MELAS syndrome caused by mutation in MTTC 0 trials
- MELAS syndrome caused by mutation in MTTH 0 trials
- MELAS syndrome caused by mutation in MTTK 0 trials
- MELAS syndrome caused by mutation in MTTQ 0 trials
- MELAS syndrome caused by mutation in MTTS1 0 trials
- MELAS syndrome caused by mutation in MTTS2 0 trials
HELLP syndrome 13 trials
Hepatorenal syndrome 13 trials
Familial chylomicronemia syndrome 11 trials · 13 incl. sub-types
5 sub-types
- Familial lipoprotein lipase deficiency 6 trials
- Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 0 trials
- Familial apolipoprotein C-II deficiency 0 trials
- Hyperlipoproteinemia, type 1D 0 trials
- Lipase deficiency, combined 0 trials
Stiff-person syndrome 12 trials
3 sub-types
- Classic stiff person syndrome 0 trials
- Focal stiff limb syndrome 0 trials
- Progressive encephalomyelitis with rigidity and myoclonus 0 trials
Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types
4 sub-types
- Chediak-Higashi syndrome 9 trials
- Hermansky-Pudlak syndrome 4 trials Sub-types →
- Griscelli syndrome 2 trials · 3 incl. sub-types Sub-types →
- Oculocerebral hypopigmentation syndrome, Cross type 0 trials
Simpson-Golabi-Behmel syndrome 11 trials
2 sub-types
- Simpson-Golabi-Behmel syndrome type 1 0 trials
- Simpson-Golabi-Behmel syndrome type 2 0 trials
Thoracic outlet syndrome 11 trials
3 sub-types
- Arterial thoracic outlet syndrome 0 trials
- Neurogenic thoracic outlet syndrome 0 trials
- Venous thoracic outlet syndrome 0 trials
Autoimmune polyendocrinopathy 3 trials · 11 incl. sub-types
4 sub-types
- Autoimmune polyendocrine syndrome type 1 8 trials
- Autoimmune polyendocrinopathy type 2 1 trial
- Autoimmune polyendocrinopathy type 3 1 trial
- Autoimmune polyendocrinopathy type 4 0 trials
Syndromic microphthalmia 0 trials · 11 incl. sub-types
19 sub-types
- Matthew-Wood syndrome 5 trials
- Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
- COFS syndrome 1 trial Sub-types →
- MMEP syndrome 1 trial
- Behrens Baumann dust syndrome 0 trials
- RAB18 deficiency 0 trials Sub-types →
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
- Linear skin defects with multiple congenital anomalies 0 trials Sub-types →
- Microphthalmia microtia fetal akinesia 0 trials
- Microphthalmia with brain and digit anomalies 0 trials
- Microphthalmia, Lenz type 0 trials
- Microphthalmia, syndromic 1 0 trials
- Microphthalmia, syndromic 11 0 trials
- Microphthalmia, syndromic 12 0 trials
- Microphthalmia, syndromic 2 0 trials
- Microphthalmia-brain atrophy syndrome 0 trials
- Oculoauricular syndrome 0 trials
- Syndromic microphthalmia type 5 0 trials
Brugada syndrome 10 trials
9 sub-types
- Brugada syndrome 1 0 trials
- Brugada syndrome 2 0 trials
- Brugada syndrome 3 0 trials
- Brugada syndrome 4 0 trials
- Brugada syndrome 5 0 trials
- Brugada syndrome 6 0 trials
- Brugada syndrome 7 0 trials
- Brugada syndrome 8 0 trials
- Brugada syndrome 9 0 trials
Marinesco-Sjogren syndrome 10 trials
Phelan-McDermid syndrome 10 trials
2 sub-types
- Phelan-McDermid syndrome due to SHANK3 mutation 3 trials
- Phelan-McDermid syndrome due to 22q13.3 deletion 0 trials
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
Post-infectious syndrome 5 trials · 10 incl. sub-types
3 sub-types
- KSHV inflammatory cytokine syndrome 4 trials
- Zika virus congenital syndrome 1 trial
- TORCH syndrome 0 trials
Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types
3 sub-types
- Mucopolysaccharidosis type 4A 8 trials
- Morquio syndrome C 0 trials
- Mucopolysaccharidosis type 4B 0 trials
Stevens-Johnson syndrome 9 trials
Burning mouth syndrome 9 trials
1 sub-type
- Burning mouth syndrome type 3 0 trials
Calciphylaxis 9 trials
2 sub-types
- Calciphylaxis cutis 0 trials
- Visceral calciphylaxis 0 trials
Hand-foot syndrome 9 trials
Mayer-Rokitansky-Kuster-Hauser syndrome 8 trials · 9 incl. sub-types
2 sub-types
- Mayer-Rokitansky-Kuster-Hauser syndrome type 1 3 trials
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 0 trials
Sickle cell-beta-thalassemia disease syndrome 5 trials · 9 incl. sub-types
2 sub-types
- Sickle cell-beta zero-thalassemia 6 trials
- Sickle cell-beta plus-thalassemia 5 trials
Leriche syndrome 8 trials
Breast implant illness 8 trials
Developmental and/or epileptic encephalopathy with spike-wave activation in sleep 8 trials
1 sub-type
- GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep 0 trials
Mucopolysaccharidosis type 6 8 trials
2 sub-types
- Mucopolysaccharidosis type 6, rapidly progressing 0 trials
- Mucopolysaccharidosis type 6, slowly progressing 0 trials
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
IRF6-related condition 0 trials · 8 incl. sub-types
2 sub-types
- Van der Woude syndrome 8 trials Sub-types →
- Popliteal pterygium syndrome 0 trials Sub-types →
Silver-Russell syndrome 7 trials
11 sub-types
- Russell-silver syndrome, X-linked 0 trials
- Silver-Russell syndrome 1 0 trials
- Silver-Russell syndrome 3 0 trials
- Silver-Russell syndrome 5 0 trials
- Silver-Russell syndrome due to 11p15 microduplication 0 trials
- Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
- Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
- Silver-russell syndrome 2 0 trials
- Silver-russell syndrome 4 0 trials
Wolfram syndrome 7 trials
3 sub-types
- Wolfram syndrome 1 1 trial
- Wolfram syndrome 2 0 trials
- Wolfram syndrome, mitochondrial form 0 trials
Cystinuria 7 trials
2 sub-types
- Cystinuria type A 0 trials
- Cystinuria type B 0 trials
Miliaria 7 trials
8 sub-types
- Infantile miliaria 0 trials
- Miliaria alba 0 trials
- Miliaria crystallina 0 trials
- Miliaria papulosa 0 trials
- Miliaria profunda 0 trials
- Miliaria pustulosa 0 trials
- Miliaria rubra 0 trials
- Miliaria vesiculosa 0 trials
Sickle cell-hemoglobin c disease syndrome 7 trials
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types
22 sub-types
- Bardet-Biedl syndrome 1 1 trial
- Bardet-Biedl syndrome 10 0 trials
- Bardet-Biedl syndrome 11 0 trials
- Bardet-Biedl syndrome 12 0 trials
- Bardet-Biedl syndrome 13 0 trials
- Bardet-Biedl syndrome 14 0 trials
- Bardet-Biedl syndrome 15 0 trials
- Bardet-Biedl syndrome 16 0 trials
- Bardet-Biedl syndrome 17 0 trials
- Bardet-Biedl syndrome 18 0 trials
- Bardet-Biedl syndrome 19 0 trials
- Bardet-Biedl syndrome 2 0 trials
- Bardet-Biedl syndrome 20 0 trials
- Bardet-Biedl syndrome 22 0 trials
- Bardet-Biedl syndrome 3 0 trials
- Bardet-Biedl syndrome 4 0 trials
- Bardet-Biedl syndrome 5 0 trials
- Bardet-Biedl syndrome 6 0 trials
- Bardet-Biedl syndrome 7 0 trials
- Bardet-Biedl syndrome 8 0 trials
- Bardet-Biedl syndrome 9 0 trials
- Bardet-biedl syndrome 21 0 trials
Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types
50 sub-types
- Spastic paraplegia, optic atropy, and neuropathy 3 trials
- Hereditary spastic paraplegia 11 1 trial
- Hereditary spastic paraplegia 15 1 trial
- Hereditary spastic paraplegia 26 1 trial
- Hereditary spastic paraplegia 63 1 trial
- MASA syndrome 0 trials
- Troyer syndrome 0 trials
- Autosomal dominant complex spastic paraplegia 0 trials Sub-types →
- Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
- Autosomal recessive complex spastic paraplegia type 9B 0 trials
- Autosomal recessive spastic paraplegia type 59 0 trials
- Autosomal recessive spastic paraplegia type 60 0 trials
- Autosomal recessive spastic paraplegia type 66 0 trials
- Autosomal recessive spastic paraplegia type 67 0 trials
- Autosomal recessive spastic paraplegia type 68 0 trials
- Autosomal recessive spastic paraplegia type 69 0 trials
- Autosomal recessive spastic paraplegia type 70 0 trials
- Autosomal recessive spastic paraplegia type 76 0 trials
- Autosomal recessive spastic paraplegia type 78 0 trials
- Fatty acid hydroxylase-associated neurodegeneration 0 trials
- Glutamate pyruvate transaminase 2 deficiency 0 trials
- Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 trials
- Hereditary spastic paraplegia 18 0 trials Sub-types →
- Hereditary spastic paraplegia 23 0 trials
- Hereditary spastic paraplegia 24 0 trials
- Hereditary spastic paraplegia 25 0 trials
- Hereditary spastic paraplegia 27 0 trials
- Hereditary spastic paraplegia 32 0 trials
- Hereditary spastic paraplegia 39 0 trials Sub-types →
- Hereditary spastic paraplegia 43 0 trials
- Hereditary spastic paraplegia 44 0 trials
- Hereditary spastic paraplegia 45 0 trials
- Hereditary spastic paraplegia 46 0 trials
- Hereditary spastic paraplegia 49 0 trials
- Hereditary spastic paraplegia 53 0 trials
- Hereditary spastic paraplegia 54 0 trials
- Hereditary spastic paraplegia 55 0 trials
- Hereditary spastic paraplegia 57 0 trials
- Hereditary spastic paraplegia 61 0 trials
- Hereditary spastic paraplegia 64 0 trials
- Hereditary spastic paraplegia 74 0 trials
- Hereditary spastic paraplegia 75 0 trials
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 0 trials
- Maternally-inherited spastic paraplegia 0 trials
- Spastic ataxia 2 0 trials
- Spastic paraplegia 84, autosomal recessive 0 trials
- Spastic paraplegia 85, autosomal recessive 0 trials
- Spastic paraplegia 86, autosomal recessive 0 trials
- Spastic paraplegia-glaucoma-intellectual disability syndrome 0 trials
- Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
Duane retraction syndrome 6 trials
4 sub-types
- Duane retraction syndrome 2 0 trials
- Duane retraction syndrome 3 with or without deafness 0 trials
- Duane retraction syndrome with congenital deafness 0 trials
- Duane syndrome type 1 0 trials
Hurler syndrome 6 trials
Loeys-Dietz syndrome 6 trials
6 sub-types
- Loeys-Dietz syndrome 1 0 trials
- Loeys-Dietz syndrome 2 0 trials
- Loeys-Dietz syndrome 4 0 trials
- Loeys-Dietz syndrome 6 0 trials
- Rienhoff syndrome 0 trials
- Aneurysm-osteoarthritis syndrome 0 trials
Angioosteohypertrophic syndrome 6 trials
Carcinoid syndrome 6 trials
1 sub-type
- Carcinoid crisis 0 trials
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
Tethered spinal cord syndrome 6 trials
DICER1-related tumor predisposition 1 trial · 6 incl. sub-types
2 sub-types
- Pleuropulmonary blastoma 4 trials Sub-types →
- Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 1 trial
Neonatal aspiration syndrome 1 trial · 6 incl. sub-types
2 sub-types
- Meconium aspiration syndrome 5 trials
- Massive neonatal aspiration syndrome 0 trials
Growth hormone insensitivity syndrome 0 trials · 6 incl. sub-types
6 sub-types
- Growth delay due to insulin-like growth factor I resistance 4 trials
- Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
- Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types Sub-types →
- Laron syndrome 0 trials
- Short stature due to partial GHR deficiency 0 trials
- Short stature due to primary acid-labile subunit deficiency 0 trials
CLOVES syndrome 5 trials
Eisenmenger syndrome 5 trials
IMAGe syndrome 5 trials
Kearns-Sayre syndrome 5 trials
MERRF syndrome 5 trials
McCune-Albright syndrome 5 trials
Menkes disease 5 trials
Shwachman-Diamond syndrome 5 trials
3 sub-types
- DNAJC21-related Shwachman Diamond syndrome 0 trials
- Shwachman-Diamond syndrome 1 0 trials
- Shwachman-Diamond syndrome 2 0 trials
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials
4 sub-types
Congenital myasthenic syndrome 5 trials
8 sub-types
- Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
- Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types Sub-types →
- Congenital myasthenic syndrome 15 0 trials
- Congenital myasthenic syndrome 5 0 trials
- Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
- Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
- Myasthenic syndrome, congenital, 22 0 trials
- Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
Craniofacial microsomia 5 trials
2 sub-types
- Craniofacial microsomia 1 0 trials
- Craniofacial microsomia 2 0 trials
Drug rash with eosinophilia and systemic symptoms 5 trials
Pelvis syndrome 5 trials
Cornelia de Lange syndrome 4 trials · 5 incl. sub-types
6 sub-types
- Cornelia de Lange syndrome 1 1 trial
- Cornelia de Lange syndrome 2 0 trials
- Cornelia de Lange syndrome 3 0 trials
- Cornelia de Lange syndrome 4 0 trials
- Cornelia de Lange syndrome 5 0 trials
- Cornelia de Lange syndrome 6 0 trials
Boerhaave syndrome 4 trials
CHARGE syndrome 4 trials
1 sub-type
- CHD7-related CHARGE syndrome 0 trials
Fanconi renotubular syndrome 4 trials
4 sub-types
- Deal Barratt Dillon syndrome 0 trials
- Acquired Fanconi syndrome 0 trials Sub-types →
- Adult Fanconi syndrome 0 trials
- Inherited Fanconi renotubular syndrome 0 trials Sub-types →
SUNCT syndrome 4 trials
Mitochondrial neurogastrointestinal encephalomyopathy 4 trials
4 sub-types
- Mitochondrial DNA depletion syndrome 1 0 trials
- Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
- Mitochondrial DNA depletion syndrome 4b 0 trials
- Mitochondrial DNA depletion syndrome 8a 0 trials
Nephronophthisis 1 4 trials
Trisomy 13 4 trials
2 sub-types
- Complete trisomy 13 0 trials
- Mosaic trisomy 13 0 trials
Stickler syndrome 2 trials · 4 incl. sub-types
5 sub-types
- Stickler syndrome type 1 3 trials Sub-types →
- Stickler syndrome type 2 2 trials
- Stickler syndrome, type 4 0 trials
- Stickler syndrome, type 5 0 trials
- Stickler syndrome, type 6 0 trials
Kenny-Caffey syndrome 0 trials · 4 incl. sub-types
2 sub-types
- Autosomal recessive Kenny-Caffey syndrome 4 trials
- Autosomal dominant Kenny-Caffey syndrome 0 trials
Hypoplastic right heart syndrome 0 trials · 4 incl. sub-types
2 sub-types
- Pulmonary atresia-intact ventricular septum syndrome 4 trials
- Isolated right ventricular hypoplasia 0 trials
Barre-Lieou syndrome 3 trials
Hutchinson-Gilford progeria syndrome 3 trials
Kallmann syndrome 3 trials
18 sub-types
- Hypogonadotropic hypogonadism 1 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 11 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 14 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 15 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 16 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 17 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 18 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 19 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 2 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 20 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 21 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 22 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 3 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 4 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 5 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 6 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 8 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 9 with or without anosmia 0 trials
Noonan syndrome with multiple lentigines 3 trials
3 sub-types
- LEOPARD syndrome 1 0 trials
- LEOPARD syndrome 2 0 trials
- LEOPARD syndrome 3 0 trials
Pearson syndrome 3 trials
Pitt-Hopkins syndrome 3 trials
Cannabinoid hyperemesis syndrome 3 trials
Facial hemiatrophy 3 trials
Hereditary alpha tryptasemia syndrome 3 trials
Mitochondrial DNA depletion syndrome 4a 3 trials
Oculocerebrorenal syndrome 3 trials
Ornithine translocase deficiency 3 trials
Triple-A syndrome 3 trials
Trisomy 18 3 trials
2 sub-types
- Complete trisomy 18 0 trials
- Mosaic trisomy 18 0 trials
Trisomy X 3 trials
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types
4 sub-types
Iridocorneal endothelial syndrome 1 trial · 3 incl. sub-types
3 sub-types
- Chandler syndrome 2 trials
- Cogan-Reese syndrome 0 trials
- Essential iris atrophy 0 trials
Aicardi syndrome 2 trials
Birt-Hogg-Dube syndrome 2 trials
2 sub-types
- Birt-Hogg-Dube syndrome 1 0 trials
- Birt-Hogg-Dube syndrome 2 0 trials
Charles bonnet syndrome 2 trials
Cri-du-chat syndrome 2 trials
Hurler-Scheie syndrome 2 trials
Joubert syndrome 2 trials
39 sub-types
- Joubert syndrome 1 0 trials
- Joubert syndrome 10 0 trials
- Joubert syndrome 11 0 trials
- Joubert syndrome 13 0 trials
- Joubert syndrome 14 0 trials
- Joubert syndrome 15 0 trials
- Joubert syndrome 16 0 trials
- Joubert syndrome 17 0 trials Sub-types →
- Joubert syndrome 18 0 trials
- Joubert syndrome 19 0 trials
- Joubert syndrome 2 0 trials
- Joubert syndrome 20 0 trials
- Joubert syndrome 21 0 trials
- Joubert syndrome 22 0 trials
- Joubert syndrome 23 0 trials
- Joubert syndrome 24 0 trials
- Joubert syndrome 25 0 trials
- Joubert syndrome 26 0 trials
- Joubert syndrome 27 0 trials
- Joubert syndrome 28 0 trials
- Joubert syndrome 29 0 trials
- Joubert syndrome 3 0 trials
- Joubert syndrome 30 0 trials
- Joubert syndrome 31 0 trials
- Joubert syndrome 32 0 trials
- Joubert syndrome 33 0 trials
- Joubert syndrome 34 0 trials
- Joubert syndrome 35 0 trials
- Joubert syndrome 36 0 trials
- Joubert syndrome 37 0 trials
- Joubert syndrome 38 0 trials
- Joubert syndrome 39 0 trials
- Joubert syndrome 40 0 trials
- Joubert syndrome 5 0 trials
- Joubert syndrome 6 0 trials
- Joubert syndrome 7 0 trials
- Joubert syndrome 8 0 trials
- Joubert syndrome 9 0 trials
- Joubert syndrome with renal defect 0 trials
Kabuki syndrome 2 trials
2 sub-types
- Kabuki syndrome 1 0 trials
- Kabuki syndrome 2 0 trials
Mobius syndrome 2 trials
1 sub-type
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
Poland syndrome 2 trials
Susac syndrome 2 trials
Werner syndrome 2 trials
Acrocallosal syndrome 2 trials
Cauda equina syndrome 2 trials
1 sub-type
- Cauda equina syndrome with neurogenic bladder 0 trials
Celiac trunk compression syndrome 2 trials
Congenital cardiovascular shunt 2 trials
Craniofacial and skeletal defects 2 trials
Dilated cardiomyopathy 1A 2 trials
Engraftment syndrome 2 trials
Enlarged vestibular aqueduct syndrome 2 trials
Gas bloat syndrome 2 trials
Hantavirus pulmonary syndrome 2 trials
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
Jaw-winking syndrome 2 trials
2 sub-types
- Marin-Amat syndrome 0 trials
- Inverse Marcus-Gunn phenomenon 0 trials
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 trials
Nail-patella syndrome 2 trials
Polydactyly-myopia syndrome 2 trials
Retrograde cricopharyngeus dysfunction 2 trials
Superior mesenteric artery syndrome 2 trials
Superior vena cava syndrome 2 trials
Sweet syndrome 2 trials
Vertebral artery insufficiency 2 trials
Xeroderma pigmentosum-Cockayne syndrome complex 1 trial · 2 incl. sub-types
6 sub-types
- Xeroderma pigmentosum group F 1 trial
- Xeroderma pigmentosum group B 0 trials
- Xeroderma pigmentosum group D 0 trials
- Xeroderma pigmentosum group G 0 trials
- Xeroderma pigmentosum, type F/Cockayne syndrome 0 trials
- Xeroderma pigmentosum, type G/Cockayne syndrome 0 trials
Pallister-Hall syndrome 0 trials · 2 incl. sub-types
1 sub-type
- Congenital hypothalamic hamartoma syndrome 2 trials
Disappearing bone disease 0 trials · 2 incl. sub-types
2 sub-types
- Gorham-Stout disease 2 trials
- Acroosteolysis dominant type 0 trials
Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types
4 sub-types
- Jeune syndrome 1 trial · 2 incl. sub-types Sub-types →
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy 0 trials Sub-types →
- Cranioectodermal dysplasia 0 trials Sub-types →
- Short rib-polydactyly syndrome, Majewski type 0 trials Sub-types →
Aagenaes syndrome 1 trial
Adams-Stokes syndrome 1 trial
Alstrom syndrome 1 trial
Axenfeld-Rieger syndrome 1 trial
3 sub-types
- Axenfeld-Rieger syndrome type 3 1 trial
- Axenfeld-Rieger syndrome type 1 0 trials
- Axenfeld-Rieger syndrome type 2 0 trials
BNAR syndrome 1 trial
Capgras syndrome 1 trial
Caroli syndrome 1 trial
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
Coffin-Siris syndrome 1 trial
11 sub-types
- Coffin-Siris syndrome 1 0 trials
- Coffin-Siris syndrome 10 0 trials
- Coffin-Siris syndrome 11 0 trials
- Coffin-Siris syndrome 12 0 trials
- Coffin-Siris syndrome 5 0 trials
- Coffin-Siris syndrome 7 0 trials
- Coffin-Siris syndrome 8 0 trials
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
- Intellectual disability, autosomal dominant 14 0 trials
- Intellectual disability, autosomal dominant 15 0 trials
- Intellectual disability, autosomal dominant 16 0 trials
Currarino triad 1 trial
DNA ligase IV deficiency 1 trial
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial
2 sub-types
- Okihiro syndrome due to 20q13 microdeletion 0 trials
- Okihiro syndrome due to a point mutation 0 trials
EEC syndrome 1 trial
2 sub-types
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
Freeman-Sheldon syndrome 1 trial
1 sub-type
- Whistling face syndrome, recessive form 0 trials
Fryns syndrome 1 trial
German syndrome 1 trial
Holmes-Adie syndrome 1 trial
Joubert syndrome with oculorenal defect 1 trial
5 sub-types
- Joubert syndrome 14 0 trials
- Joubert syndrome 16 0 trials
- Joubert syndrome 2 0 trials
- Joubert syndrome 5 0 trials
- Joubert syndrome 9 0 trials
Lesch-Nyhan syndrome 1 trial
1 sub-type
- Lesch-Nyhan phenotype with normal HGPRT 0 trials
Liddle syndrome 1 trial
3 sub-types
- Liddle syndrome 1 0 trials
- Liddle syndrome 2 0 trials
- Liddle syndrome 3 0 trials
MPI-congenital disorder of glycosylation 1 trial
Meier-Gorlin syndrome 1 trial
9 sub-types
- Meier-Gorlin syndrome 1 0 trials
- Meier-Gorlin syndrome 2 0 trials
- Meier-Gorlin syndrome 3 0 trials
- Meier-Gorlin syndrome 4 0 trials
- Meier-Gorlin syndrome 5 0 trials
- Meier-Gorlin syndrome 6 0 trials
- Meier-Gorlin syndrome 7 0 trials
- Meier-Gorlin syndrome 8 0 trials
- Meier-Gorlin syndrome 9 0 trials
Potocki-Lupski syndrome 1 trial
Potter sequence 1 trial
RHYNS syndrome 1 trial
RNU4ATAC spectrum disorder 1 trial
3 sub-types
- Lowry-Wood syndrome 1 trial
- Roifman syndrome 1 trial
- Microcephalic osteodysplastic primordial dwarfism type I 1 trial
Reunion island Larsen syndrome 1 trial
Scheie syndrome 1 trial
Sotos syndrome 1 trial
Tolosa-Hunt syndrome 1 trial
Waardenburg syndrome 1 trial
5 sub-types
- Waardenburg syndrome type 1 1 trial
- Waardenburg syndrome type 2 1 trial Sub-types →
- Waardenburg syndrome type 3 0 trials
- Waardenburg syndrome, IIa 2F 0 trials
- Waardenburg-Shah syndrome 0 trials Sub-types →
Wernicke-Korsakoff syndrome 1 trial
1 sub-type
- Alcohol-induced Wernicke-Korsakoff's syndrome 0 trials
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
Acute radiation syndrome 1 trial
Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial
2 sub-types
- Arthrogryposis, renal dysfunction, and cholestasis 1 0 trials
- Arthrogryposis, renal dysfunction, and cholestasis 2 0 trials
Atlanto-axial fusion 1 trial
Bidirectional tachycardia 1 trial
Capillary leak syndrome 1 trial
Cleidocranial dysplasia 1 1 trial
Congenital amputation 1 trial
Congenital insensitivity to pain syndrome, Marsili type 1 trial
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
Craniofrontonasal syndrome 1 trial
Deafness-infertility syndrome 1 trial
Deafness-lymphedema-leukemia syndrome 1 trial
Epidermal nevus syndrome 1 trial
Epilepsy with myoclonic atonic seizures 1 trial
Gastrointestinal defects and immunodeficiency syndrome 1 1 trial
Human HOXA1 syndromes 1 trial
1 sub-type
- Bosley-Salih-Alorainy syndrome 0 trials
Hypoparathyroidism-deafness-renal disease syndrome 1 trial
Ichthyosis prematurity syndrome 1 trial
Levator syndrome 1 trial
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
Metaphyseal chondrodysplasia, Jansen type 1 trial
Microtia with meatal atresia and conductive deafness 1 trial
Monoclonal mast cell activation syndrome 1 trial
Neuroleptic malignant syndrome 1 trial
Orofaciodigital syndrome I 1 trial
Palindromic rheumatism 1 trial
Pituitary stalk interruption syndrome 1 trial
Postaxial acrofacial dysostosis 1 trial
Prune belly syndrome 1 trial
Septooptic dysplasia 1 trial
2 sub-types
- Congenital absence of septum pellucidum 0 trials
- Pagon stephan syndrome 0 trials
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
Subclavian steal syndrome 1 trial
Tarsal tunnel syndrome 1 trial
Thalidomide embryopathy 1 trial
Thrombocytopenia-absent radius syndrome 1 trial
Visceral heterotaxy 1 trial
19 sub-types
- Dextrocardia 1 trial
- Situs inversus 1 trial Sub-types →
- Heterotaxy, visceral, 1, X-linked 0 trials
- Heterotaxy, visceral, 10, autosomal, with male infertility 0 trials
- Heterotaxy, visceral, 11, autosomal, with male infertility 0 trials
- Heterotaxy, visceral, 12, autosomal 0 trials
- Heterotaxy, visceral, 13, autosomal 0 trials
- Heterotaxy, visceral, 14, autosomal 0 trials
- Heterotaxy, visceral, 2, autosomal 0 trials
- Heterotaxy, visceral, 3, autosomal 0 trials
- Heterotaxy, visceral, 4, autosomal 0 trials
- Heterotaxy, visceral, 5, autosomal 0 trials
- Heterotaxy, visceral, 6, autosomal 0 trials
- Heterotaxy, visceral, 7, autosomal 0 trials
- Heterotaxy, visceral, 8, autosomal 0 trials
- Heterotaxy, visceral, 9, autosomal, with male infertility 0 trials
- Laterality defects, autosomal dominant 0 trials
- Levocardia 0 trials
- Right atrial isomerism 0 trials
Meckel syndrome 0 trials · 1 incl. sub-types
14 sub-types
- Meckel syndrome, type 1 1 trial
- Meckel syndrome 13 0 trials
- Meckel syndrome, type 10 0 trials
- Meckel syndrome, type 11 0 trials
- Meckel syndrome, type 2 0 trials
- Meckel syndrome, type 3 0 trials
- Meckel syndrome, type 4 0 trials
- Meckel syndrome, type 5 0 trials
- Meckel syndrome, type 6 0 trials
- Meckel syndrome, type 8 0 trials
- Meckel syndrome, type 9 0 trials
- NPHP3-related Meckel-like syndrome 0 trials
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
- Meckel syndrome 14 0 trials
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types
3 sub-types
- Thyroid cancer, nonmedullary, 1 1 trial
- Brain-lung-thyroid syndrome 0 trials
- Hereditary progressive chorea without dementia 0 trials
Seckel syndrome 0 trials · 1 incl. sub-types
12 sub-types
- Seckel syndrome 7 1 trial
- Seckel syndrome 1 0 trials
- Seckel syndrome 10 0 trials
- Seckel syndrome 11 0 trials
- Seckel syndrome 2 0 trials
- Seckel syndrome 4 0 trials
- Seckel syndrome 5 0 trials
- Seckel syndrome 6 0 trials
- Seckel syndrome 8 0 trials
- Seckel syndrome 9 0 trials
- Intrauterine growth retardation with increased mitomycin c sensitivity 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
Microcephalic osteodysplastic primordial dwarfism types I and III 0 trials · 1 incl. sub-types
2 sub-types
- Microcephalic osteodysplastic primordial dwarfism type I 1 trial
- Microcephalic osteodysplastic primordial dwarfism, type 3 0 trials
3-M syndrome 0 trials
3 sub-types
- 3M syndrome 1 0 trials
- 3M syndrome 2 0 trials
- 3M syndrome 3 0 trials
46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
48,XXXY syndrome 0 trials
48,XXYY syndrome 0 trials
48,XYYY syndrome 0 trials
49,XXXXY syndrome 0 trials
6q terminal deletion syndrome 0 trials
8p23.1 microdeletion syndrome 0 trials
AIDS dysmorphic syndrome 0 trials
ANE syndrome 0 trials
Abruzzo-Erickson syndrome 0 trials
Achard syndrome 0 trials
Achard-Thiers syndrome 0 trials
Achenbach syndrome 0 trials
Acrootoocular syndrome 0 trials
Ahumada Del Castillo syndrome 0 trials
Aksu von Stockhausen syndrome 0 trials
Al-Gazali syndrome 0 trials
Alfadhel syndrome 0 trials
Alice in Wonderland syndrome 0 trials
Alkuraya-Kucinskas syndrome 0 trials
Aloi Tomasini Isaia syndrome 0 trials
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 0 trials
1 sub-type
- Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 trials
Alsahan-Harris syndrome 0 trials
Apert-like polydactyly syndrome 0 trials
Armfield syndrome 0 trials
Arnold stickler bourne syndrome 0 trials
Atkin-Flaitz syndrome 0 trials
Ayme-Gripp syndrome 0 trials
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
BD syndrome 0 trials
BRESEK syndrome 0 trials
Bamforth-Lazarus syndrome 0 trials
Baraitser-Winter cerebrofrontofacial syndrome 0 trials
2 sub-types
- Baraitser-Winter syndrome 1 0 trials
- Baraitser-winter syndrome 2 0 trials
Barnicoat Baraitser syndrome 0 trials
Bartter syndrome 0 trials
6 sub-types
- Bartter disease type 1 0 trials
- Bartter disease type 2 0 trials
- Bartter disease type 3 0 trials
- Bartter disease type 5 0 trials
- Bartter syndrome type 4 0 trials Sub-types →
- Bartter syndrome with hypocalcemia 0 trials
Basedow's coma 0 trials
Basilicata-Akhtar syndrome 0 trials
Beardwell syndrome 0 trials
Bencze syndrome 0 trials
Bernard-Soulier syndrome 0 trials
1 sub-type
- Bernard-Soulier syndrome, type A2, autosomal dominant 0 trials
Bloom syndrome 0 trials
Bonnemann-Meinecke-Reich syndrome 0 trials
Bonnevie-Ullrich syndrome 0 trials
Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
Brown-Sequard syndrome 0 trials
Bruck syndrome 0 trials
2 sub-types
- Bruck syndrome 1 0 trials
- Bruck syndrome 2 0 trials
Brunsting-Perry syndrome 0 trials
Buschke-Ollendorff syndrome 0 trials
CADDS 0 trials
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
CEDNIK syndrome 0 trials
CODAS syndrome 0 trials
COG1-congenital disorder of glycosylation 0 trials
COG5-congenital disorder of glycosylation 0 trials
CREST syndrome 0 trials
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials
3 sub-types
- Cataract 16 multiple types 0 trials Sub-types →
- Dilated cardiomyopathy 1II 0 trials
- Myofibrillar myopathy 2 0 trials
Camurati-Engelmann disease 0 trials
2 sub-types
- Camurati-Engelmann disease type 1 0 trials
- Camurati-Engelmann disease type 2 0 trials
Cantu Sanchez-Corona Fragoso syndrome 0 trials
Cantu Sanchez-Corona Garcia-Cruz syndrome 0 trials
Cantu Sanchez-Corona Hernandez syndrome 0 trials
Carnevale hernandez castillo syndrome 0 trials
Cartwright Nelson Fryns syndrome 0 trials
Cerebrorenodigital syndrome 0 trials
Christian Demyer Franken syndrome 0 trials
Christian Johnson angenieta syndrome 0 trials
Christianson syndrome 0 trials
Cohen Lockood Wyborney syndrome 0 trials
Cole-Carpenter syndrome 0 trials
2 sub-types
- Cole-Carpenter syndrome 1 0 trials
- Cole-Carpenter syndrome 2 0 trials
Collins-Sakati syndrome 0 trials
Colver Steer Godman syndrome 0 trials
Combarros Calleja Leno syndrome 0 trials
Cormier Rustin Munnich syndrome 0 trials
Cortes Lacassie syndrome 0 trials
Cramp-fasciculation syndrome 0 trials
Crandall syndrome 0 trials
Crigler-Najjar syndrome 0 trials
2 sub-types
- Crigler-Najjar syndrome type 1 0 trials
- Crigler-Najjar syndrome type 2 0 trials
Czeizel-Losonci syndrome 0 trials
DK1-congenital disorder of glycosylation 0 trials
DOORS syndrome 0 trials
Davenport-Donlan syndrome 0 trials
Davis Lafer syndrome 0 trials
Dennis-Fairhurst-Moore syndrome 0 trials
Diamond-Blackfan anemia 2 0 trials
Donohue syndrome 0 trials
Drachtman Weinblatt Sitarz syndrome 0 trials
Duane anomaly-myopathy-scoliosis syndrome 0 trials
Dubin-Johnson syndrome 0 trials
Duker-Weiss-Siber syndrome 0 trials
Dursun syndrome 0 trials
Dursun-Ozgul neurodevelopmental syndrome 0 trials
Dyggve-Melchior-Clausen disease 0 trials
1 sub-type
- Dyggve-Melchior-Clausen syndrome, X-linked 0 trials
EDICT syndrome 0 trials
Eagle syndrome 0 trials
Elliott ludman Teebi syndrome 0 trials
Elsahy-Waters syndrome 0 trials
Engelhard Yatziv syndrome 0 trials
FG syndrome 0 trials
6 sub-types
- Aarskog-Scott syndrome, X-linked 0 trials
- FG syndrome 1 0 trials
- FG syndrome 2 0 trials
- FG syndrome 3 0 trials
- FG syndrome 4 0 trials
- FG syndrome 5 0 trials
FICUS syndrome 0 trials
FRAXF syndrome 0 trials
Fanconi-like syndrome 0 trials
1 sub-type
- FANCM Fanconi-like genomic instability disorder 0 trials
Faye-Petersen-Ward-Carey syndrome 0 trials
Feingold syndrome 0 trials
2 sub-types
- Feingold syndrome type 1 0 trials
- Feingold syndrome type 2 0 trials
Feingold trainer syndrome 0 trials
Felty syndrome 0 trials
Finnish type amyloidosis 0 trials
Fitz-Hugh-Curtis syndrome 0 trials
Fliedner-Zweier syndrome 0 trials
Fontaine farriaux blanckaert syndrome 0 trials
Frank-Ter Haar syndrome 0 trials
Fraser Jequier Chen syndrome 0 trials
Fraser syndrome 0 trials
3 sub-types
- Fraser syndrome 1 0 trials
- Fraser syndrome 2 0 trials
- Fraser syndrome 3 0 trials
Frasier syndrome 0 trials
Freiberg disease 0 trials
Friedman Goodman syndrome 0 trials
Froelich syndrome 0 trials
Fryns Fabry Remans syndrome 0 trials
Fryns Smeets Thiry syndrome 0 trials
Fuchs atrophia gyrata chorioideae et retinae 0 trials
Fuchs heterochromic iridocyclitis 0 trials
Fukuda-Miyanomae-Nakata syndrome 0 trials
Fuqua Berkovitz syndrome 0 trials
GMS syndrome 0 trials
Galloway-Mowat syndrome 0 trials
10 sub-types
- Galloway-Mowat syndrome 1 0 trials
- Galloway-Mowat syndrome 10 0 trials
- Galloway-Mowat syndrome 2, X-linked 0 trials
- Galloway-Mowat syndrome 3 0 trials
- Galloway-Mowat syndrome 4 0 trials
- Galloway-Mowat syndrome 5 0 trials
- Galloway-Mowat syndrome 6 0 trials
- Galloway-Mowat syndrome 7 0 trials
- Galloway-Mowat syndrome 8 0 trials
- Galloway-Mowat syndrome 9 0 trials
Gamstorp-Wohlfart syndrome 0 trials
Garret-Tripp syndrome 0 trials
Gaucher ichthyosis restrictive dermopathy 0 trials
Ghose-Sachdev-Kumar syndrome 0 trials
Gilbert syndrome 0 trials
Gitelman syndrome 0 trials
Goldberg-Shprintzen syndrome 0 trials
Greig cephalopolysyndactyly syndrome 0 trials
1 sub-type
- Greig cephalopolysyndactyly-contiguous gene syndrome 0 trials
Grisel syndrome 0 trials
Grubben-de Cock-Borghgraef syndrome 0 trials
Guillouet-Gordon syndrome 0 trials
Guttmacher syndrome 0 trials
HEC syndrome 0 trials
Harel-Tora neurodevelopmental syndrome 0 trials
Hartsfield-Bixler-Demyer syndrome 0 trials
Hennekam syndrome 0 trials
3 sub-types
- Hennekam lymphangiectasia-lymphedema syndrome 1 0 trials
- Hennekam lymphangiectasia-lymphedema syndrome 2 0 trials
- Hennekam lymphangiectasia-lymphedema syndrome 3 0 trials
Hernández-Aguirre Negrete syndrome 0 trials
Hirschsprung disease-ganglioneuroblastoma syndrome 0 trials
Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 0 trials
Hirschsprung disease-type D brachydactyly syndrome 0 trials
Ho-Kaufman-McAlister syndrome 0 trials
Holzgreve-Wagner-Rehder syndrome 0 trials
Houge-Janssens syndrome 0 trials
4 sub-types
- Houge-Janssens syndrome 1 0 trials
- Houge-Janssens syndrome 2 0 trials
- Houge-Janssens syndrome 3 0 trials
- Houge-Janssens syndrome 4 0 trials
Hoxha-Aliu syndrome 0 trials
Hughes-Stovin syndrome 0 trials
ICHAD syndrome 0 trials
IFAP syndrome 0 trials
2 sub-types
- IFAP syndrome 1, with or without BRESHECK syndrome 0 trials
- IFAP syndrome 2 0 trials
Imerslund-Grasbeck syndrome 0 trials
2 sub-types
- Imerslund-Grasbeck syndrome type 1 0 trials
- Imerslund-Grasbeck syndrome type 2 0 trials
Jaberi-Elahi syndrome 0 trials
Jacobsen syndrome 0 trials
Jaffer-Beighton syndrome 0 trials
Joubert syndrome with ocular defect 0 trials
5 sub-types
- Joubert syndrome 14 0 trials
- Joubert syndrome 15 0 trials
- Joubert syndrome 20 0 trials
- Joubert syndrome 28 0 trials
- Joubert syndrome 3 0 trials
Judge Misch wright syndrome 0 trials
KAT6B-related multiple congenital anomalies syndrome 0 trials
KINSSHIP syndrome 0 trials
KLHL7-related Bohring-Opitz-like syndrome 0 trials
KLHL7-related cold-induced sweating-like syndrome 0 trials
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
Kariminejad neurodevelopmental syndrome 0 trials
Kashani-Strom-Utley syndrome 0 trials
Kasznica-Carlson-Coppedge syndrome 0 trials
Katsantoni-Papadakou-Lagoyanni syndrome 0 trials
Kleine-Levin syndrome 0 trials
Kluver-Bucy syndrome 0 trials
Kocher-debre-Semelaigne syndrome 0 trials
Koone-Rizzo-Elias syndrome 0 trials
Kousseff syndrome 0 trials
Kozlowski Brown Hardwick syndrome 0 trials
Kozlowski Ouvrier syndrome 0 trials
Kozlowski Rafinski Klicharska syndrome 0 trials
Kozlowski Warren Fisher syndrome 0 trials
Krauss Herman Holmes syndrome 0 trials
Krieble Bixler syndrome 0 trials
Kuster Majewski Hammerstein syndrome 0 trials
Kuster syndrome 0 trials
Landau-Kleffner syndrome 0 trials
Landy-Donnai syndrome 0 trials
Laugier-Hunziker syndrome 0 trials
Laurence-Moon syndrome 0 trials
Laurence-Prosser-Rocker syndrome 0 trials
Leigh syndrome, mitochondrial 0 trials
Lenz-Majewski hyperostotic dwarfism 0 trials
Li-Takada-Miyake syndrome 0 trials
Liberfarb syndrome 0 trials
Long-Olsen-Distelmaier syndrome 0 trials
Lopes-Maciel-Rodan syndrome 0 trials
Lowe-Kohn-Cohen syndrome 0 trials
Lown-Ganong-Levine syndrome 0 trials
Lui-Jee-Baron syndrome 0 trials
Luscan-Lumish syndrome 0 trials
MEDNIK syndrome 0 trials
MIRAGE syndrome 0 trials
MYT1L-related developmental delay-intellectual disability-obesity syndrome 0 trials
Mallory-Weiss syndrome 0 trials
Marinesco-Sjogren-like syndrome 0 trials
Marshall-Smith syndrome 0 trials
Mauriac syndrome 0 trials
Meacham syndrome 0 trials
Meester-Loeys syndrome 0 trials
Melhem-Fahl syndrome 0 trials
Melkersson-Rosenthal syndrome 0 trials
Mietens syndrome 0 trials
Mikati-Najjar-Sahli syndrome 0 trials
Miller Fisher syndrome 0 trials
Miller-Dieker lissencephaly syndrome 0 trials
Milner-Khallouf-Gibson syndrome 0 trials
Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
Muggenthaler-Chowdhury-Chioza syndrome 0 trials
NDUFB11-related disorders 0 trials
2 sub-types
- Linear skin defects with multiple congenital anomalies 3 0 trials
- Mitochondrial complex I deficiency, nuclear type 30 0 trials
Nager acrofacial dysostosis 0 trials
Nathalie syndrome 0 trials
Neu-Laxova syndrome 0 trials
3 sub-types
- Neu-Laxova syndrome 1 0 trials
- Neu-Laxova syndrome 2 0 trials
- Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 0 trials
Norman-Roberts syndrome 0 trials
Opitz G/BBB syndrome 0 trials
1 sub-type
- X-linked Opitz G/BBB syndrome 0 trials
PAGOD syndrome 0 trials
PCWH syndrome 0 trials
PEHO syndrome 0 trials
PMP22-RAI1 contiguous gene duplication syndrome 0 trials
Pallister-W syndrome 0 trials
Pan-Chung-Bellen syndrome 0 trials
Parana hard-skin syndrome 0 trials
Parinaud syndrome 0 trials
Pavone Fiumara Rizzo syndrome 0 trials
Pendred syndrome 0 trials
Perlman syndrome 0 trials
Perry syndrome 0 trials
Peters plus syndrome 0 trials
Pfeiffer Tietze Welte syndrome 0 trials
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 0 trials
Plummer-Vinson syndrome 0 trials
Potocki-Shaffer syndrome 0 trials
Primrose syndrome 0 trials
Qazi Markouizos syndrome 0 trials
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 0 trials
2 sub-types
- Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 0 trials
- Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 0 trials
Rabson-Mendenhall syndrome 0 trials
Rahman syndrome 0 trials
Ramond-Elliott neurodevelopmental syndrome 0 trials
Reye syndrome 0 trials
Roberts-SC phocomelia syndrome 0 trials
Robinow syndrome 0 trials
3 sub-types
- Autosomal dominant Robinow syndrome 0 trials Sub-types →
- Autosomal recessive Robinow syndrome 0 trials
- Robinow syndrome, autosomal recessive 2 0 trials
Roussy-Levy syndrome 0 trials
Rubinstein Taybi like syndrome 0 trials
Ruvalcaba syndrome 0 trials
Ruzicka-Goerz-Anton syndrome 0 trials
SCARF syndrome 0 trials
SHORT syndrome 0 trials
STAD syndrome 0 trials
Saal-Bulas syndrome 0 trials
Sackey-Sakati-Aur syndrome 0 trials
Sammartino-Decreccio syndrome 0 trials
Samson-Gardner syndrome 0 trials
Samson-Viljoen syndrome 0 trials
Sanderson-Fraser syndrome 0 trials
Sandhaus-Ben-Ami syndrome 0 trials
Sandifer syndrome 0 trials
Saul-Wilkes-Stevenson syndrome 0 trials
Say-Barber-Miller syndrome 0 trials
Schilbach-Rott syndrome 0 trials
Schlegelberger-Grote syndrome 0 trials
Schmid metaphyseal chondrodysplasia 0 trials
Schrander-stumpel-Theunissen-Hulsmans syndrome 0 trials
Schwartz-Cohen-addad-Lambert syndrome 0 trials
Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
Seckel like syndrome majoor-krakauer type 0 trials
Sheehan syndrome 0 trials
Sillence syndrome 0 trials
Skraban-Deardorff syndrome 0 trials
Slti-Salem syndrome 0 trials
Spigelian hernia-cryptorchidism syndrome 0 trials
Stankiewicz-Isidor syndrome 0 trials
Sweeney-Cox syndrome 0 trials
Tan-Almurshedi syndrome 0 trials
Tayoun-Maawali syndrome 0 trials
Tietze syndrome 0 trials
Townes-Brocks syndrome 0 trials
2 sub-types
- Townes-Brocks syndrome 1 0 trials
- Townes-Brocks syndrome 2 0 trials
Treacher-Collins syndrome 0 trials
4 sub-types
- Treacher Collins syndrome 1 0 trials
- Treacher Collins syndrome 2 0 trials
- Treacher Collins syndrome 3 0 trials
- Treacher Collins syndrome 4 0 trials
VACTERL with hydrocephalus 0 trials
1 sub-type
- VACTERL association, X-linked, with or without hydrocephalus 0 trials
VACTERL/vater association 0 trials
1 sub-type
- VACTERL association, X-linked, with or without hydrocephalus 0 trials
Valence-Farazi cerebellar ataxia syndrome 0 trials
Ververi-Brady syndrome 0 trials
2 sub-types
- Ververi-Brady syndrome 1 0 trials
- Ververi-Brady syndrome 2 0 trials
Vici syndrome 0 trials
Waterhouse-Friderichsen syndrome 0 trials
Weaver syndrome 0 trials
Weill-Marchesani syndrome 0 trials
4 sub-types
- Weill-Marchesani 4 syndrome, recessive 0 trials
- Weill-Marchesani syndrome 1 0 trials
- Weill-Marchesani syndrome 2, dominant 0 trials
- Weill-Marchesani syndrome 3 0 trials
Wiedemann-Rautenstrauch syndrome 0 trials
Wildervanck syndrome 0 trials
Wissler syndrome 0 trials
Wolcott-Rallison syndrome 0 trials
Wolf-Hirschhorn syndrome 0 trials
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 trials
X-linked corneal dermoid 0 trials
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 0 trials
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 0 trials
X-linked lissencephaly with abnormal genitalia 0 trials
X-linked mandibulofacial dysostosis 0 trials
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 0 trials
X-linked myotubular myopathy-abnormal genitalia syndrome 0 trials
X-linked spasticity-intellectual disability-epilepsy syndrome 0 trials
XFE progeroid syndrome 0 trials
Yuksel-Vogel-Bauer syndrome 0 trials
Yunis-Varon syndrome 0 trials
Zadik-Barak-Levin syndrome 0 trials
Zazam Sheriff Phillips syndrome 0 trials
Zerres Rietschel Majewski syndrome 0 trials
Zinner syndrome 0 trials
Ablepharon macrostomia syndrome 0 trials
Achalasia-alacrima syndrome 0 trials
Acral dysostosis dyserythropoiesis syndrome 0 trials
Acrofrontofacionasal dysostosis 2 0 trials
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
Acute lymphoblastic leukemia congenital sporadic aniridia 0 trials
Aglossia and situs inversus 0 trials
Agnathia-microstomia-synotia 0 trials
Agyria pachygyria polymicrogyria 0 trials
Agyria-pachygyria type 1 0 trials
Alacrima, achalasia, and intellectual disability syndrome 0 trials
Alopecia - intellectual disability syndrome 0 trials
4 sub-types
- Alopecia-intellectual disability syndrome 1 0 trials
- Alopecia-intellectual disability syndrome 2 0 trials
- Alopecia-intellectual disability syndrome 3 0 trials
- Alopecia-intellectual disability syndrome 4 0 trials
Alopecia congenita keratosis palmoplantaris 0 trials
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
Alpha thalassemia-intellectual disability syndrome type 1 0 trials
Alpha-mannosidosis type 1 0 trials
Alpha-thalassemia-myelodysplastic syndrome 0 trials
Aluminosis 0 trials
Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
Angioosteohypotrophic syndrome 0 trials
Aniridia - intellectual disability syndrome 0 trials
Aniridia-absent patella syndrome 0 trials
Aniridia-cerebellar ataxia-intellectual disability syndrome 0 trials
Aniridia-ptosis-intellectual disability-familial obesity syndrome 0 trials
Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
Ankle defects short stature 0 trials
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 trials
Ankyloblepharon filiforme imperforate anus 0 trials
Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
Annular constricting bands 0 trials
Anophthalmia cleft palate micrognathia 0 trials
Anophthalmia esophageal atresia cryptorchidism 0 trials
Anophthalmia plus syndrome 0 trials
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
Anotia facial palsy cardiac defect 0 trials
Anterior spinal artery syndrome 0 trials
Aortic dissection lentiginosis 0 trials
Aplasia cutis congenita-intestinal lymphangiectasia syndrome 0 trials
Aplasia of lacrimal and salivary glands 0 trials
Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
Arakawa syndrome 2 0 trials
Arena syndrome 0 trials
Arterial tortuosity-bone fragility syndrome 0 trials
Arthrogryposis IUGR thoracic dystrophy 0 trials
Arthrogryposis multiplex congenita CNS calcification 0 trials
Arthrogryposis spinal muscular atrophy 0 trials
Asternia 0 trials
Ataxia - telangiectasia variant 0 trials
Ataxia-photosensitivity-short stature syndrome 0 trials
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
Atrophoderma of Pierini and Pasini 0 trials
Auroneurodental syndrome 0 trials
Autism-facial port-wine stain syndrome 0 trials
Autosomal dominant cataract 0 trials
1 sub-type
- Autosomal dominant non-nuclear cataract 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials
2 sub-types
- Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
- Chondrodysplasia punctata, tibial-metacarpal type 0 trials
Autosomal dominant deafness - onychodystrophy syndrome 0 trials
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
Autosomal recessive multiple pterygium syndrome 0 trials
1 sub-type
- Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 trials
Axial mesodermal dysplasia spectrum 0 trials
Baetz-greenwalt syndrome 0 trials
Bagatelle Cassidy syndrome 0 trials
Baker Vinters syndrome 0 trials
Basilar artery insufficiency 0 trials
Benign exophthalmos syndrome 0 trials
Bhaskar jagannathan syndrome 0 trials
Bilirubin induced brain injury in the newborn 0 trials
Black locks with albinism and deafness syndrome 0 trials
Blepharo naso facial syndrome van Maldergem type 0 trials
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 0 trials
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
Bobble-head doll syndrome 0 trials
Bone dysplasia corpus callosum agenesis 0 trials
Brachydactyly absence of distal phalanges 0 trials
Brachydactyly anonychia 0 trials
Brachydactyly small stature face anomalies 0 trials
Brachydactyly tibial hypoplasia 0 trials
Brachydactyly type A2 0 trials
Brachydactyly-arterial hypertension syndrome 0 trials
Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 0 trials
Brain malformation renal syndrome 0 trials
Branchio-oto-renal syndrome 0 trials
2 sub-types
- Branchiootorenal syndrome 1 0 trials
- Branchiootorenal syndrome 2 0 trials
Branchiootic syndrome 0 trials
3 sub-types
- Branchiootic syndrome 1 0 trials
- Branchiootic syndrome 2 0 trials
- Branchiootic syndrome 3 0 trials
Brittle bone syndrome lethal type 0 trials
Bronchiectasis oligospermia 0 trials
Bruyn scheltens syndrome 0 trials
Burn goodship syndrome 0 trials
Campomelia, Cumming type 0 trials
Camptodactyly joint contractures and facial skeletal dysplasia 0 trials
Camptodactyly vertebral fusion 0 trials
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
Camptomelic syndrome, long-limb type 0 trials
Carbon baby syndrome 0 trials
Cardiac hydatid cysts with intracavitary expansion 0 trials
Cardiac, facial, and digital anomalies with developmental delay 0 trials
Cardiocutaneous syndrome 0 trials
Cardioectodermal syndrome 0 trials
2 sub-types
- Naxos disease 0 trials
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 trials
Cardioencephalomyopathy 0 trials
Cardiofacial syndrome short limbs 0 trials
Cardiomelic syndrome stratton Koehler type 0 trials
Cardiomyopathy and deafness due to tRNA lysine gene mutation 0 trials
Cardiomyopathy diabetes deafness 0 trials
Cardiomyopathy hypogonadism collagenoma syndrome 0 trials
Cardiomyopathy hypogonadism metabolic anomalies 0 trials
Cardiomyopathy spherocytosis 0 trials
Cardiomyopathy-cataract-hip spine disease syndrome 0 trials
Carpo tarsal osteolysis recessive 0 trials
Cat-eye syndrome 0 trials
Cataract - microcornea syndrome 0 trials
Cataract skeletal anomalies 0 trials
Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
Cataract-deafness-hypogonadism syndrome 0 trials
Cataract-glaucoma syndrome 0 trials
Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
Cataract-nephropathy-encephalopathy syndrome 0 trials
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials
2 sub-types
- Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 0 trials
- Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 0 trials
Caudal duplication 0 trials
Caudal regression-sirenomelia spectrum 0 trials
1 sub-type
- Familial caudal dysgenesis 0 trials Sub-types →
Cennamo gangemi syndrome 0 trials
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome 0 trials
Cerebellar agenesis 0 trials
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
Cerebello-olivary atrophy 0 trials
Cerebral calcification cerebellar hypoplasia 0 trials
Cerebral calcifications opalescent teeth phosphaturia 0 trials
Cerebrocostomandibular syndrome 0 trials
Childhood aortic valve stenosis 0 trials
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
Chondrodysplasia 0 trials
3 sub-types
- Chondrodysplasia punctata with steroid sulfatase deficiency 0 trials
- Chondrodysplasia situs inversus imperforate anus polydactyly 0 trials
- Lethal recessive chondrodysplasia 0 trials
Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
Choreoacanthocytosis amyotrophic 0 trials
Chorioretinopathy dominant form microcephaly 0 trials
Chromosome 13q14 deletion syndrome 0 trials
Chromosome 16p12.1 deletion syndrome, 520kb 0 trials
Chromosome 18p deletion syndrome 0 trials
Chromosome 18q deletion syndrome 0 trials
2 sub-types
- Distal chromosome 18q deletion syndrome 0 trials
- Proximal chromosome 18q deletion syndrome 0 trials
Chromosome 3 duplication syndrome 0 trials
Chronic atrial and intestinal dysrhythmia 0 trials
Chronic demyelinizing neuropathy with IgM monoclonal 0 trials
Ciliary dyskinesia-bronchiectasis 0 trials
Circumscribed cutaneous aplasia of the vertex 0 trials
Circumscribed disseminated keratosis Jadassohn lew type 0 trials
Cleft lip and palate malrotation cardiopathy 0 trials
Cleft lip and/or palate with mucous cysts of lower 0 trials
Cleft lip palate dysmorphism kumar type 0 trials
Cleft lip palate intellectual disability corneal opacity 0 trials
Cleft lip palate oligodontia syndactyly pili torti 0 trials
Cleft lip palate pituitary deficiency 0 trials
Cleft lip palate-tetraphocomelia 0 trials
Cleft lip-retinopathy syndrome 0 trials
Cleft lip/palate-deafness-sacral lipoma syndrome 0 trials
Cleft lower lip cleft lateral canthi chorioretinal 0 trials
Cleft palate cardiac defect ectrodactyly 0 trials
Cleft palate colobomata radial synostosis deafness 0 trials
Cleft palate heart disease polydactyly absent tibia 0 trials
Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials
1 sub-type
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation 0 trials
Cleft tongue 0 trials
Cleidorhizomelic syndrome 0 trials
Cloacal exstrophy 0 trials
Coarse face hypotonia constipation 0 trials
Cochleosaccular degeneration-cataract syndrome 0 trials
Coloboma porencephaly hydronephrosis 0 trials
Colobomata unilobar lung heart defect 0 trials
Colobomatous macrophthalmia-microcornea syndrome 0 trials
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
Colonic malakoplakia 0 trials
Complement receptor deficiency 0 trials
Congenital absence of the sternocleidomastoid muscle 0 trials
Congenital acardia 0 trials
1 sub-type
- Holoacardius amorphus 0 trials
Congenital aneurysms of the great vessels 0 trials
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 0 trials
Congenital articular rigidity 0 trials
Congenital benign spinal muscular atrophy dominant 0 trials
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 0 trials
Congenital cataract-ichthyosis syndrome 0 trials
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
Congenital contractures 0 trials
Congenital craniosynostosis maternal hyperthyroiditis 0 trials
Congenital cystic eye 0 trials
1 sub-type
- Congenital cystic eye multiple ocular and intracranial anomalies 0 trials
Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
Congenital heart disease ptosis hypodontia craniostosis 0 trials
Congenital heart disease radio ulnar synostosis intellectual disability 0 trials
Congenital hereditary facial paralysis-variable hearing loss syndrome 0 trials
2 sub-types
- Facial paresis, hereditary congenital, 2 0 trials
- Facial paresis, hereditary congenital, 3 0 trials
Congenital ichthyosis-microcephalus-tetraplegia syndrome 0 trials
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
Congenital laryngeal web 0 trials
Congenital mumps 0 trials
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
Congenital stenosis of cervical medullary canal 0 trials
Congenital unilateral pulmonary hypoplasia 0 trials
Congenital vagal hyperreflexivity 0 trials
Congenital varicella syndrome 0 trials
Corneal crystals myopathy neuropathy 0 trials
Corneal dystrophy ichthyosis microcephaly intellectual disability 0 trials
Corneal dystrophy pigmentary anomaly malabsorption 0 trials
Corneal dystrophy-perceptive deafness syndrome 0 trials
Corneal-cerebellar syndrome 0 trials
Corpus callosum agenesis of blepharophimosis robin type 0 trials
Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
Corpus callosum agenesis-double urinary collecting system syndrome 0 trials
Corpus callosum dysgenesis X-linked recessive 0 trials
Corpus callosum dysgenesis cleft spasm 0 trials
Corpus callosum dysgenesis hypopituitarism 0 trials
Cortada Koussef Matsumoto syndrome 0 trials
Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
Cortical dysplasia-focal epilepsy syndrome 0 trials
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials
2 sub-types
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 trials
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 0 trials
Craniofacial dysostosis arthrogryposis progeroid appearance 0 trials
Craniofaciocardiohepatic syndrome 0 trials
Craniofrontonasal syndrome Teebi type 0 trials
Craniostenosis with congenital heart disease intellectual disability 0 trials
Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome 0 trials
Craniosynostosis-scoliosis syndrome 0 trials
Crawfurd syndrome 0 trials
Cutis gyratum acanthosis nigricans craniosynostosis 0 trials
Cutis laxa osteoporosis 0 trials
Cystic fibrosis-gastritis-megaloblastic anemia syndrome 0 trials
De Hauwere Leroy adriaenssens syndrome 0 trials
De Sanctis-Cacchione syndrome 0 trials
Deafness conductive stapedial ear malformation facial palsy 0 trials
Deafness goiter stippled epiphyses 0 trials
Deafness hypospadias metacarpal and metatarsal syndrome 0 trials
Deafness mesenteric diverticula of small bowel neuropathy 0 trials
Deafness peripheral neuropathy arterial disease 0 trials
Deafness progressive cataract autosomal dominant 0 trials
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
Deafness-hypogonadism syndrome 0 trials
Deafness-intellectual disability, Martin-Probst type syndrome 0 trials
Dermatocardioskeletal syndrome boronne type 0 trials
Dermochondrocorneal dystrophy 0 trials
Developmental and speech delay due to SOX5 deficiency 0 trials
Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome 0 trials
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 0 trials
Dextrocardia with situs inversus 0 trials
Diabetes persistent mullerian ducts 0 trials
Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
Diaphragmatic agenesis radial aplasia omphalocele 0 trials
Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
Diaphragmatic hernia exomphalos corpus callosum agenesis 0 trials
Diaphragmatic hernia upper limb defects 0 trials
Diaphragmatic hernia-short bowel-asplenia syndrome 0 trials
Die Smulders droog van dijk syndrome 0 trials
Diencephalic syndrome 0 trials
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
Diffuse infiltrative lymphocytosis syndrome 0 trials
Digital anomalies-intellectual disability-short stature syndrome 0 trials
Dilated cardiomyopathy 1E 0 trials
Diomedi bernardi placidi syndrome 0 trials
Diphallus rachischisis imperforate anus 0 trials
Distal monosomy 13q 0 trials
Distal trisomy 14q 0 trials
Distichiasis heart congenital anomalies 0 trials
Diverticulosis of bowel, hernia, and retinal detachment 0 trials
Double discordia 0 trials
Double uterus-hemivagina-renal agenesis 0 trials
Double uterus-hemivagina-renal agenesis syndrome 0 trials
Duodenal atresia tetralogy of fallot 0 trials
Duplication of leg mirror foot 0 trials
Duplication of the thumb unilateral biphalangeal 0 trials
Dupont sellier chochillon syndrome 0 trials
Dwarfism bluish sclerae 0 trials
Dwarfism deafness retinitis pigmentosa 0 trials
Dwarfism lethal type advanced bone age 0 trials
Dwarfism thin bones multiple fractures 0 trials
Dyschondrosteosis-nephritis syndrome 0 trials
Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
Dysmorphism cleft palate loose skin 0 trials
Dyssegmental dysplasia-glaucoma syndrome 0 trials
Dystonia-aphonia syndrome 0 trials
Early-onset obesity-hyperphagia-severe developmental delay syndrome 0 trials
Ectrodactyly cardiopathy dysmorphism 0 trials
Ectrodactyly-polydactyly syndrome 0 trials
Empty sella syndrome 0 trials
Enamel hypoplasia cataract hydrocephaly 0 trials
Encephalocele anencephaly 0 trials
Encephalopathy, recurrent, of childhood 0 trials
Enchondromatosis dwarfism deafness 0 trials
Epidermal nevus vitamin D resistant rickets 0 trials
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
Epimetaphyseal dysplasia cataract 0 trials
Epiphyseal dysplasia dysmorphism camptodactyly 0 trials
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
Ermine phenotype 0 trials
Esophageal atresia coloboma talipes 0 trials
Estrogen resistance syndrome 0 trials
Euthyroid sick syndrome 0 trials
Even-plus syndrome 0 trials
Extrasystoles short stature hyperpigmentation microcephaly 0 trials
Eyebrow duplication-syndactyly syndrome 0 trials
Facial clefting corpus callosum agenesis 0 trials
Facio digito genital syndrome recessive form 0 trials
Facio skeletal genital syndrome rippberger type 0 trials
Faciodigitogenital syndrome 0 trials
3 sub-types
- Aarskog-Scott syndrome, X-linked 0 trials
- Autosomal dominant Aarskog syndrome 0 trials
- Autosomal recessive faciodigitogenital syndrome 0 trials
Familial capillaro-venous leptomeningeal angiomatosis 0 trials
Familial episodic pain syndrome with predominantly lower limb involvement 0 trials
Familial infantile bilateral striatal necrosis 0 trials
1 sub-type
- Striatonigral degeneration, infantile, mitochondrial 0 trials
Familial intestinal malrotation-facial anomalies syndrome 0 trials
Familial osteodysplasia, Anderson type 0 trials
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
Feigenbaum Bergeron syndrome 0 trials
Ferro-cerebro-cutaneous syndrome 0 trials
Fetal akinesia deformation sequence 0 trials
5 sub-types
- Fetal akinesia deformation sequence 1 0 trials
- Fetal akinesia deformation sequence 2 0 trials
- Fetal akinesia deformation sequence 3 0 trials
- Fetal akinesia deformation sequence 4 0 trials
- Fetal akinesia syndrome, X-linked 0 trials
Fetal brain disruption sequence 0 trials
Fetal enterovirus syndrome 0 trials
Fetal hydantoin syndrome 0 trials
Fetal parainfluenza virus type 3 syndrome 0 trials
Fetal phenothiazine syndrome 0 trials
Fetal valproate syndrome 0 trials
Fibrogenesis imperfecta ossium 0 trials
Fibromatosis multiple non ossifying 0 trials
Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
Fibula aplasia complex brachydactyly 0 trials
Fibular aplasia-ectrodactyly syndrome 0 trials
Fibular hypoplasia scapulo pelvic dysplasia absent 0 trials
Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 0 trials
Focal alopecia congenital megalencephaly 0 trials
Focal or multifocal malformations in neuronal migration 0 trials
Foix chavany Marie syndrome 0 trials
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
Fragile X-associated tremor/ataxia syndrome 0 trials
Frontofacionasal dysplasia 0 trials
Frontonasal dysplasia Klippel feil syndrome 0 trials
Frontonasal dysplasia phocomelic upper limbs 0 trials
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 0 trials
Frontonasal malformation cloacal exstrophy 0 trials
Genitopatellar syndrome 0 trials
Gershinibaruch Leibo syndrome 0 trials
Gigantism advanced bone age hoarse cry 0 trials
Gingival fibromatosis-facial dysmorphism syndrome 0 trials
Glaucoma-sleep apnea syndrome 0 trials
Global developmental delay-osteopenia-ectodermal defect syndrome 0 trials
Glossopalatine ankylosis micrognathia ear anomalies 0 trials
Goldstein hutt syndrome 0 trials
Goniodysgenesis intellectual disability short stature 0 trials
Gray platelet syndrome 0 trials
Green sandford davison syndrome 0 trials
Grix Blankenship Peterson syndrome 0 trials
Growth delay-hydrocephaly-lung hypoplasia syndrome 0 trials
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 trials
Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
Hair defect with photosensitivity and intellectual disability syndrome 0 trials
Hand-foot-genital syndrome 0 trials
Hearing impairment and infertile male syndrome 0 trials
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 0 trials
Heart-hand syndrome 0 trials
6 sub-types
- Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
- Holt-Oram syndrome 0 trials Sub-types →
- Brachydactyly-long thumb syndrome 0 trials
- Heart-hand syndrome type 2 0 trials
- Heart-hand syndrome, Slovenian type 0 trials
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
Hepatic fibrosis-renal cysts-intellectual disability syndrome 0 trials
Hereditary benign intraepithelial dyskeratosis 0 trials
Hereditary continuous muscle fiber activity 0 trials
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 0 trials
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0 trials
Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
High myopia-sensorineural deafness syndrome 0 trials
Holoprosencephaly 0 trials
17 sub-types
- Alobar holoprosencephaly 0 trials Sub-types →
- Chromosome 1q41-q42 deletion syndrome 0 trials
- Holoprosencephaly 1 0 trials
- Holoprosencephaly 10 0 trials
- Holoprosencephaly 11 0 trials
- Holoprosencephaly 12 with or without pancreatic agenesis 0 trials
- Holoprosencephaly 13, X-linked 0 trials
- Holoprosencephaly 14 0 trials
- Holoprosencephaly 2 0 trials
- Holoprosencephaly 3 0 trials Sub-types →
- Holoprosencephaly 4 0 trials
- Holoprosencephaly 6 0 trials
- Holoprosencephaly 7 0 trials
- Holoprosencephaly 8 0 trials
- Lobar holoprosencephaly 0 trials Sub-types →
- Microform holoprosencephaly 0 trials Sub-types →
- Semilobar holoprosencephaly 0 trials
Holoprosencephaly-postaxial polydactyly syndrome 0 trials
Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
Hydrocephalus-obesity-hypogonadism syndrome 0 trials
Hydrocephaly-cerebellar agenesis syndrome 0 trials
Hypergonadotropic hypogonadism-cataract syndrome 0 trials
Hypertrichotic osteochondrodysplasia Cantu type 0 trials
Hypogonadism-mitral valve prolapse-intellectual disability syndrome 0 trials
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 0 trials
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
Hypotonia-cystinuria syndrome 0 trials
1 sub-type
- Atypical hypotonia-cystinuria syndrome 0 trials
Hypotrichosis-deafness syndrome 0 trials
Hypotrichosis-intellectual disability, Lopes type 0 trials
Hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 0 trials
2 sub-types
- Hypotrichosis-lymphedema-telangiectasia syndrome 0 trials
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 trials
Ichthyosis linearis circumflexa 0 trials
Ichthyosis-cheek-eyebrow syndrome 0 trials
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0 trials
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
Ichthyosis-oral and digital anomalies syndrome 0 trials
Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
Infantile choroidocerebral calcification syndrome 0 trials
Infantile convulsions and choreoathetosis 0 trials
Infantile striato thalamic degeneration 0 trials
Infundibulopelvic stenosis-multicystic kidney syndrome 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Intellectual disability, autosomal dominant 30 0 trials
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 0 trials
Intellectual disability-cataracts-kyphosis syndrome 0 trials
Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
Intellectual disability-hypotonia-skin hyperpigmentation syndrome 0 trials
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 0 trials
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0 trials
Intellectual disability-strabismus syndrome 0 trials
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 0 trials
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 0 trials
Ischio-vertebral syndrome 0 trials
Isotretinoin syndrome 0 trials
Joint laxity, short stature, and myopia 0 trials
Keratosis follicularis-dwarfism-cerebral atrophy syndrome 0 trials
Laryngeal abductor paralysis-intellectual disability syndrome 0 trials
Laryngo-onycho-cutaneous syndrome 0 trials
Lateral medullary syndrome 0 trials
Le Marec-Bracq-Picaud syndrome 0 trials
Lethal congenital contracture syndrome 1 0 trials
Lethal hemolytic anemia-genital anomalies syndrome 0 trials
Lethal multiple pterygium syndrome 0 trials
1 sub-type
- X-linked lethal multiple pterygium syndrome 0 trials
Limb body wall complex 0 trials
Linkeropathy 0 trials
3 sub-types
- Desbuquois dysplasia 2 0 trials
- Spondylo-ocular syndrome 0 trials
- Spondylodysplastic Ehlers-Danlos syndrome 0 trials
Loin pain hematuria syndrome 0 trials
Lower limb deficiency-hypospadias syndrome 0 trials
Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
Lymphedema-atrial septal defects-facial changes syndrome 0 trials
Lymphedema-cerebral arteriovenous anomaly syndrome 0 trials
Lymphedema-distichiasis syndrome 0 trials
Macrocephaly-short stature-paraplegia syndrome 0 trials
Macrogyria, pseudobulbar palsy and intellectual disability 0 trials
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
Mandibulofacial dysostosis with alopecia 0 trials
Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials
5 sub-types
Megalencephaly-polydactyly syndrome 0 trials
Merlob grunebaum reisner syndrome 0 trials
Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 trials
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
Methimazole embryofetopathy 0 trials
Microcephalic primordial dwarfism due to RTTN deficiency 0 trials
1 sub-type
- Bilateral generalized polymicrogyria 0 trials
Microcephalic primordial dwarfism, Alazami type 0 trials
Microcephalic primordial dwarfism, Toriello type 0 trials
Microcephaly and chorioretinopathy 1 0 trials
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
Microcephaly-brain defect-spasticity-hypernatremia syndrome 0 trials
Microcephaly-capillary malformation syndrome 0 trials
Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
Microcephaly-microcornea syndrome, Seemanova type 0 trials
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 0 trials
Microgastria-limb reduction defect syndrome 0 trials
Microlissencephaly-micromelia syndrome 0 trials
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0 trials
Mirror polydactyly-vertebral segmentation-limbs defects syndrome 0 trials
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 trials
Monosomy 13q34 0 trials
Motor developmental delay due to 14q32.2 paternally expressed gene defect 0 trials
3 sub-types
- Maternal uniparental disomy of chromosome 14 0 trials
- Paternal 14q32.2 hypomethylation syndrome 0 trials
- Paternal 14q32.2 microdeletion syndrome 0 trials
Mulibrey nanism 0 trials
Mullerian derivatives-lymphangiectasia-polydactyly syndrome 0 trials
Mullerian duct anomalies-limb anomalies syndrome 0 trials
Multicentric osteolysis, nodulosis, and arthropathy 0 trials
Multicentric reticulohistiocytosis 0 trials
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 0 trials
Multiple synostoses syndrome 0 trials
4 sub-types
- Multiple synostoses syndrome 1 0 trials
- Multiple synostoses syndrome 2 0 trials
- Multiple synostoses syndrome 3 0 trials
- Multiple synostoses syndrome 4 0 trials
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0 trials
Muscular fibrosis multifocal obstructed vessels 0 trials
Muscular pseudohypertrophy-hypothyroidism syndrome 0 trials
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
Myopathy-growth delay-intellectual disability-hypospadias syndrome 0 trials
Nasopalpebral lipoma-coloboma syndrome 0 trials
Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts 0 trials
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 trials
Nephrogenic diabetes insipidus-intracranial calcification syndrome 0 trials
Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
Nodular neuronal heterotopia 0 trials
3 sub-types
- Periventricular nodular heterotopia 0 trials Sub-types →
- Sub-cortical nodular heterotopia 0 trials
- Subependymal nodular heterotopia 0 trials
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 0 trials
Oculo digital syndrome 0 trials
Oculo-skeletal-renal syndrome 0 trials
Oculocerebrodental syndrome 0 trials
Oculocerebrofacial syndrome, Kaufman type 0 trials
Oculodental syndrome, Rutherfurd type 0 trials
Oculogastrointestinal-neurodevelopmental syndrome 0 trials
Oculomaxillofacial dysostosis 0 trials
1 sub-type
- Tessier number 4 facial cleft 0 trials
Oculovertebral syndrome 0 trials
Olivopontocerebellar atrophy-deafness syndrome 0 trials
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
Oromandibular-limb anomalies syndrome 0 trials
2 sub-types
- Orofaciodigital syndrome 0 trials Sub-types →
- Oromandibular-limb hypogenesis syndrome 0 trials Sub-types →
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
Osteopenia-intellectual disability-sparse hair syndrome 0 trials
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 0 trials
Osteoporosis-pseudoglioma syndrome 0 trials
Osteosclerosis-ichthyosis-premature ovarian failure syndrome 0 trials
Otopalatodigital syndrome type 1 0 trials
Painful legs and moving toes syndrome 0 trials
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 trials
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 0 trials
1 sub-type
- Palmoplantar keratoderma-spastic paralysis syndrome 0 trials
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
Paraplegia-intellectual disability-hyperkeratosis syndrome 0 trials
Parkinsonism-dystonia, infantile 0 trials
3 sub-types
- Brain dopamine-serotonin vesicular transport disease 0 trials
- Classic dopamine transporter deficiency syndrome 0 trials
- Parkinsonism-dystonia 3, childhood-onset 0 trials
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
Pentasomy X 0 trials
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
Pfeiffer rockelein syndrome 0 trials
Phosphoribosylpyrophosphate synthetase deficiency 0 trials
Piepkorn karp hickok syndrome 0 trials
Pili torti-developmental delay-neurological abnormalities syndrome 0 trials
Podder-tolmie syndrome 0 trials
Pointer syndrome 0 trials
Polydactyly-macrocephaly syndrome 0 trials
Polyendocrine-polyneuropathy syndrome 0 trials
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 0 trials
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
Primary hypergonadotropic hypogonadism-partial alopecia syndrome 0 trials
Primary hypertrophic osteoarthropathy 0 trials
4 sub-types
- Cranio-osteoarthropathy 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal dominant 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 trials
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 0 trials
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 0 trials
Progeria-short stature-pigmented nevi syndrome 0 trials
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
Prostatic malacoplakia associated with prostatic abscess 0 trials
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 0 trials
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 0 trials
Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome 0 trials
Ptosis-strabismus-ectopic pupils syndrome 0 trials
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 0 trials
Ptosis-vocal cord paralysis syndrome 0 trials
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome 0 trials
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
Radial ray hypoplasia-choanal atresia syndrome 0 trials
Radio-digito-facial dysplasia 0 trials
Radioulnar synostosis-microcephaly-scoliosis syndrome 0 trials
Ragopathy 0 trials
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 0 trials
Renal caliceal diverticuli-deafness syndrome 0 trials
Renal coloboma syndrome 0 trials
Renal cysts and diabetes syndrome 0 trials
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 0 trials
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0 trials
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 0 trials
Richieri-costa guion-almeida cohen syndrome 0 trials
Ring chromosome 10 0 trials
Ring chromosome 13 0 trials
Ruvalcaba churesigaew myhre syndrome 0 trials
Scalp defects-postaxial polydactyly syndrome 0 trials
Schisis association 0 trials
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
Shone complex 0 trials
Short fifth metacarpals-insulin resistance syndrome 0 trials
Short limb dwarf lethal colavita kozlowski type 0 trials
Short stature contractures hypotonia 0 trials
Short stature, microcephaly, and endocrine dysfunction 0 trials
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 0 trials
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 trials
Shoulder and girdle defects-familial intellectual disability syndrome 0 trials
Sickle cell-hemoglobin E disease syndrome 0 trials
Sickle cell-hemoglobin d disease syndrome 0 trials
Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 trials
Spastic ataxia-corneal dystrophy syndrome 0 trials
Spastic paraparesis-cataracts-speech delay syndrome 0 trials
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
Spina bifida-hypospadias syndrome 0 trials
Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
Subaortic stenosis-short stature syndrome 0 trials
Subcortical band heterotopia 0 trials
2 sub-types
- Band heterotopia of brain 0 trials
- Lissencephaly type 1 due to doublecortin gene mutation 0 trials
Syndactyly-polydactyly-ear lobe syndrome 0 trials
Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
Syndromic congenital sodium diarrhea 0 trials
Syndromic microspherophakia 0 trials
Syndromic orbital border hypoplasia 0 trials
Syngnathia multiple anomalies 0 trials
Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
Tempi syndrome 0 trials
Temtamy preaxial brachydactyly syndrome 0 trials
Tetrasomy 12p 0 trials
Thickened earlobes with conductive deafness from incus-stapes abnormalities 0 trials
Thoraco-abdominal enteric duplication 0 trials
Thyrocerebrorenal syndrome 0 trials
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0 trials
Trigeminal trophic syndrome 0 trials
Trigonocephaly-short stature-developmental delay syndrome 0 trials
Tubular renal disease-cardiomyopathy syndrome 0 trials
Tubulointerstitial nephritis and uveitis syndrome 0 trials
Ulnar hypoplasia-split foot syndrome 0 trials
Ulnar-mammary syndrome 0 trials
Umbilical cord ulceration-intestinal atresia syndrome 0 trials
Van den Bosch syndrome 0 trials
Vitamin K-antagonist embryofetopathy 0 trials
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 0 trials
Weinstein kliman scully syndrome 0 trials
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 0 trials
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 0 trials
Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
Yellow nail syndrome 0 trials

Most studied deeper sub-types

Glioma susceptibility 1 (133) Lynch syndrome (81) Respiratory distress syndrome in premature infants (79) Neurofibromatosis type 1 (73) Myelodysplastic syndrome with excess blasts (71) Newborn respiratory distress syndrome (49) Myotonic dystrophy type 1 (45) Leukemia, acute lymphocytic, susceptibility to, 1 (41) Tuberous sclerosis (41) BRCA2-related cancer predisposition (36) Hereditary breast ovarian cancer syndrome (35) Avascular necrosis of femoral head, primary, 1 (34) Mismatch repair cancer syndrome 1 (34) Multiple endocrine neoplasia type 1 (34) Classic familial adenomatous polyposis (33) Tuberous sclerosis 1 (33) ACTH-dependent Cushing syndrome (23) BRCA1-related cancer predisposition (23) Cushing disease due to pituitary adenoma (23) Familial medullary thyroid carcinoma (23)

Including sub-types (7133) Tagged with Syndromic disease (25)

Trials to join now! 2755 Not yet recruiting 1001 Not yet finished but already full! 1227 Completed 1911 Terminated 239

Showing the 400 most recently updated of 2755 trials in this tab.

Syndromic disease

Where it sits in the disease tree

Most studied deeper sub-types

Can adding venetoclax make donor stem cell transplants safer for High-Risk blood cancers?

Off-the-Shelf immune cells target solid tumors

New combo therapy aims to tame rare bleeding disorder

New combo therapy aims to boost remission in rare blood cancer

Watch and wait: could immunotherapy let some GI cancer patients avoid surgery?

New study tests if asthma drug can stop symptoms Long-Term

Could a weekly shot fix hormone chaos in teens with PCOS?

New drug combo shows promise in AML fight

New combo therapy aims to tame kidney disease

Boosting transplants with donor immune cells to fight blood cancer relapse

New cocktail of 5 drugs targets tough leukemia

New hope for kids with rare blood disorders: benralizumab trial launches

Can donated immune cells calm the cytokine storm?

New drug aims to cut blood transfusions for MDS patients

New hope for rare blood cancers: pacritinib trial opens for teens and adults

Can a donor stem cell transplant fix broken immune systems?

Could cutting back on IV fluids save lives in septic shock?

Scientists train immune cells to hunt down mutated blood cancers

Could detoxing metals boost chemo for leukemia?

Brain pacemaker trial aims to tame Parkinson's symptoms

New drug could replace standard infusions for nerve disorder

Could your own bone marrow cells save your hip from collapse?

Can a new drug ease the joint pain of psoriatic arthritis?

Could a cancer drug ease rett syndrome? early trial launches

New combo aims to boost transplant success in rare blood cancer

New pill could ease psoriatic arthritis without biologics

New shot aims to help kids with rare heart-muscle disease move easier

New antibody tested to tame childhood arthritis and cut steroid use

Could an arthritis pill ease Sjogren's? new trial seeks answers

Triple-Drug cholesterol attack aims to strike within 72 hours of a heart attack

Breathing machine settings put to the test in severe lung injury

New CIDP drug empasiprubart enters final phase of testing

New combo attack on stubborn leukemia: chemo then transplant

Hope for kids with leukemia: new drug combo aims to boost remission

Can a malaria drug help sarcoidosis patients ditch steroids?

Could a cancer drug help kids with rare brain disorder?

New antibody HT31-1 enters human trials for ARDS

New hope for advanced cancers? first human trial launches

New device aims to help ventilator patients breathe easier by scrubbing CO2 from blood

Could removing tonsils supercharge a sleep apnea implant?

Milder chemo may make stem cell transplants safer for Non-Cancer patients

New hope for glioblastoma? drug combo trial targets aggressive brain tumors

New shot may slash cholesterol right after a heart attack

New kidney drug shows promise in reducing protein leakage

Can a stem cell transplant fix a rare genetic immune disorder?

Could tailoring chemo by age make stem cell transplants safer for MDS patients?

New drug aims to halt lung damage in autoimmune patients

New pill targets tough cancers with genetic flaw

New stem cell method aims to cut transplant risks

New combo therapy aims to stop kidney damage in membranous nephropathy

Could a pill shrink nerve tumors in NF1? new trial aims to find out

Could a cancer drug tame rare clotting disorder?

New hope for rare brain disease: platform trial targets PSP

New pill takes on brain tumors and metastases in early trial

Can a Once-Daily form of tacrolimus spare liver transplant patients from side effects?

Could a pill replace the CPAP machine for sleep apnea?

New hope for cancer patients with autoimmune conditions: immune checkpoint inhibitor trial expands access

A reversible gut sleeve could offer a new way to treat obesity

New drug shows promise for rare, severe childhood epilepsy

Hope for duchenne: new drug targets rare gene mutation in phase 3 trial

New drug aims to cut blood transfusions for bone marrow disease patients

Electric zaps to the gut could tame diabetes and fatty liver

Can a new oral drug take on hard-to-treat leukaemia?

Could a Low-Dose arthritis drug ease a dangerous sickle cell complication?

New pill could ease severe childhood arthritis

Double donor transplant trial aims to boost survival in blood cancer patients

Real-World study tracks Ravulizumab's impact on rare kidney disease

Can a simple antibody infusion shield myeloma patients from infections?

New drug aims to shrink polyps in inherited colon cancer condition

New pill takes on tough blood cancers in early trial

New drug combo aims to free MDS patients from frequent blood transfusions

New drug tulisokibart aims to ease psoriatic arthritis pain

New breathing machine approach aims to shield heart in lung failure patients

New targeted drug shows promise for Hard-to-Treat blood cancers

New ventilator aims to help patients breathe easier in the ICU

New immune cell therapy aims to stop blood cancer relapse after transplant

New drug combo targets tough leukemia in phase II trial