Disorder of development or morphogenesis

Part of

Sub-types of Disorder of development or morphogenesis

• Neurocristopathy 0 trials · 1,555 incl. sub-types
  16 sub-types

  • Melanocytic neoplasm 2 trials · 1,102 incl. sub-types Sub-types →
  • Neuroblastoma 198 trials · 204 incl. sub-types Sub-types →
  • Cutaneous neuroendocrine carcinoma 78 trials
  • Neurofibromatosis type 1 73 trials Sub-types →
  • Multiple endocrine neoplasia 7 trials · 62 incl. sub-types Sub-types →
  • Paraganglioma 53 trials · 57 incl. sub-types Sub-types →
  • Hirschsprung disease 29 trials
  • DiGeorge syndrome 11 trials
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
  • Craniofacial microsomia 5 trials Sub-types →
  • CHARGE syndrome 4 trials Sub-types →
  • Piebaldism 4 trials
  • Riley-Day syndrome 3 trials
  • Axenfeld-Rieger syndrome 1 trial Sub-types →
  • Craniofrontonasal syndrome 1 trial
  • Waardenburg-Shah syndrome 0 trials Sub-types →
• Developmental defect during embryogenesis 8 trials · 1,060 incl. sub-types
  52 sub-types

  • Developmental anomaly of metabolic origin 0 trials · 384 incl. sub-types Sub-types →
  • Multiple congenital anomalies/dysmorphic syndrome 1 trial · 289 incl. sub-types Sub-types →
  • Neurofibromatosis type 1 73 trials Sub-types →
  • Congenital limb malformation 3 trials · 61 incl. sub-types Sub-types →
  • Disorder of sexual differentiation 9 trials · 55 incl. sub-types Sub-types →
  • Central nervous system malformation 5 trials · 51 incl. sub-types Sub-types →
  • Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types Sub-types →
  • Cutis laxa 37 trials · 39 incl. sub-types Sub-types →
  • Cleft palate 34 trials · 35 incl. sub-types Sub-types →
  • Hereditary hemorrhagic telangiectasia 34 trials Sub-types →
  • Infectious embryofetopathy 2 trials · 25 incl. sub-types Sub-types →
  • Toxic or drug-related embryofetopathy 2 trials · 21 incl. sub-types Sub-types →
  • Abdominal wall malformation 6 trials · 17 incl. sub-types Sub-types →
  • Congenital anomaly of kidney and urinary tract 7 trials · 14 incl. sub-types Sub-types →
  • Progeroid syndrome 3 trials · 11 incl. sub-types Sub-types →
  • PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types Sub-types →
  • Microtia 8 trials Sub-types →
  • Urogenital tract malformation 0 trials · 8 incl. sub-types Sub-types →
  • Hydrops fetalis 3 trials · 7 incl. sub-types Sub-types →
  • Angioosteohypertrophic syndrome 6 trials
  • Legius syndrome 5 trials
  • Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
  • Cysts and fistulae of the face and oral cavity 0 trials · 3 incl. sub-types Sub-types →
  • Schwannomatosis 3 trials Sub-types →
  • Maffucci syndrome 2 trials
  • Facial cleft 0 trials · 2 incl. sub-types Sub-types →
  • Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
  • Anotia 1 trial
  • Diaphragmatic malformation 1 trial
  • Focal dermal hypoplasia 1 trial
  • Linear nevus sebaceous syndrome 1 trial
  • Macroglossia 1 trial Sub-types →
  • Becker nevus syndrome 0 trials Sub-types →
  • Desbuquois dysplasia 0 trials Sub-types →
  • Larsen syndrome 0 trials
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 0 trials Sub-types →
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 0 trials
  • Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
  • Blindness - scoliosis - arachnodactyly syndrome 0 trials
  • Bone fragility with contractures, arterial rupture, and deafness 0 trials
  • Conjoined twins 0 trials
  • Cutis laxa - Marfanoid syndrome 0 trials
  • Hemihyperplasia-multiple lipomatosis syndrome 0 trials
  • Hereditary neurocutaneous angioma 0 trials
  • Joint laxity, short stature, and myopia 0 trials
  • Lethal Larsen-like syndrome 0 trials
  • Marfanoid habitus-inguinal hernia-advanced bone age syndrome 0 trials
  • Middle ear anomaly 0 trials Sub-types →
  • Phakomatosis pigmentokeratotica 0 trials
  • Phakomatosis pigmentovascularis 0 trials Sub-types →
  • Port-wine nevi-mega cisterna magna-hydrocephalus syndrome 0 trials
  • Pseudodiastrophic dysplasia 0 trials
• Demyelinating disease 27 trials · 938 incl. sub-types
  8 sub-types

  • Demyelinating disease of central nervous system 4 trials · 866 incl. sub-types Sub-types →
  • Polyradiculoneuropathy 1 trial · 65 incl. sub-types Sub-types →
  • Demyelinating polyneuropathy 2 trials · 63 incl. sub-types Sub-types →
  • Acute disseminated encephalomyelitis 7 trials · 8 incl. sub-types Sub-types →
  • Central pontine myelinolysis 2 trials
  • Balo concentric sclerosis 0 trials
  • Schilder disease 0 trials
  • Boylan dew greco syndrome 0 trials
• Congenital anomaly of cardiovascular system 5 trials · 599 incl. sub-types
  5 sub-types

  • Congenital heart disease 269 trials · 419 incl. sub-types Sub-types →
  • Congenital heart malformation 3 trials · 155 incl. sub-types Sub-types →
  • Congenital arteriovenous fistula 60 trials · 61 incl. sub-types Sub-types →
  • Venous hemangioma 17 trials
  • Persistent fetal circulation syndrome 11 trials
• Bone development disease 2 trials · 528 incl. sub-types
  9 sub-types

  • Osteochondrodysplasia 12 trials · 381 incl. sub-types Sub-types →
  • Dysostosis 0 trials · 85 incl. sub-types Sub-types →
  • Developmental dysplasia of the hip 62 trials Sub-types →
  • Spondylocarpotarsal synostosis syndrome 2 trials
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 trial
  • Angioosteohypotrophic syndrome 0 trials
  • Brachydactyly-elbow wrist dysplasia syndrome 0 trials
  • Odontoid hypoplasia 0 trials
  • Segmental odontomaxillary dysplasia 0 trials
• Aortic valve stenosis 319 trials · 322 incl. sub-types
  4 sub-types

  • Supravalvular aortic stenosis 3 trials
  • Childhood aortic valve stenosis 0 trials
  • Congenital aortic valve stenosis 0 trials Sub-types →
  • Subvalvular aortic stenosis 0 trials Sub-types →
• Bronchopulmonary dysplasia 96 trials
• Spina bifida 44 trials · 59 incl. sub-types
  2 sub-types

  • Isolated spina bifida 1 trial · 28 incl. sub-types Sub-types →
  • Spina bifida occulta 2 trials Sub-types →
• Overgrowth syndrome 1 trial · 49 incl. sub-types
  31 sub-types

  • PIK3CA-related overgrowth spectrum 15 trials · 19 incl. sub-types Sub-types →
  • Simpson-Golabi-Behmel syndrome 11 trials Sub-types →
  • Beckwith-Wiedemann syndrome 6 trials Sub-types →
  • Angioosteohypertrophic syndrome 6 trials
  • Hemifacial hypertrophy 5 trials
  • Maffucci syndrome 2 trials
  • Proteus syndrome 2 trials
  • Congenital isolated hyperinsulinism 0 trials · 2 incl. sub-types Sub-types →
  • Bannayan-Riley-Ruvalcaba syndrome 1 trial
  • 11p15.4 microduplication syndrome 0 trials
  • 15q overgrowth syndrome 0 trials Sub-types →
  • 4p16.3 microduplication syndrome 0 trials
  • AKT3-related overgrowth spectrum 0 trials Sub-types →
  • CLAPO syndrome 0 trials
  • MTOR-related overgrowth spectrum 0 trials
  • Malan overgrowth syndrome 0 trials
  • Marshall-Smith syndrome 0 trials
  • PIK3R2-related overgrowth spectrum 0 trials Sub-types →
  • PRC-2 complex-related overgrowth spectrum 0 trials
  • Perlman syndrome 0 trials
  • Weaver syndrome 0 trials
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 0 trials
  • Hemifacial myohyperplasia 0 trials
  • Hemihyperplasia-multiple lipomatosis syndrome 0 trials
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 trials
  • Isolated hemihyperplasia 0 trials
  • Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
  • Overgrowth syndrome with 2q37 translocation 0 trials
  • Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
  • Tetrasomy 12p 0 trials
  • Trisomy 5p 0 trials
• Hypospadias 35 trials
  5 sub-types

  • Hypospadias 1, X-linked 0 trials
  • Hypospadias 2, X-linked 0 trials
  • Hypospadias 3, autosomal 0 trials
  • Hypospadias 4, X-linked 0 trials
  • Isolated female hypospadias 0 trials
• Cleft lip/palate 31 trials
  4 sub-types

  • Orofacial cleft 10 0 trials
  • Orofacial cleft 11 0 trials
  • Orofacial cleft 15 0 trials
  • Orofacial cleft 5 0 trials
• Keratinization disease 1 trial · 31 incl. sub-types
  2 sub-types

  • Keratosis 5 trials · 30 incl. sub-types Sub-types →
  • Epidermolytic ichthyosis 1 trial Sub-types →
• Noonan syndrome and Noonan-related syndrome 1 trial · 29 incl. sub-types
  6 sub-types

  • Noonan syndrome 22 trials · 25 incl. sub-types Sub-types →
  • Costello syndrome 7 trials
  • Cardiofaciocutaneous syndrome 7 trials Sub-types →
  • Legius syndrome 5 trials
  • Noonan syndrome with multiple lentigines 3 trials Sub-types →
  • Noonan syndrome-like disorder with loose anagen hair 0 trials Sub-types →
• Lactation disease 18 trials · 25 incl. sub-types
  2 sub-types

  • Galactorrhea 6 trials Sub-types →
  • Lactocele 2 trials
• Familial bicuspid aortic valve 6 trials · 21 incl. sub-types
  3 sub-types

  • Aortic valve disease 1 16 trials
  • Aortic valve disease 2 12 trials
  • Aortic valve disease 3 0 trials
• Anterior segment dysgenesis 2 trials · 21 incl. sub-types
  8 sub-types

  • Congenital primary aphakia 17 trials
  • Iridogoniodysgenesis 0 trials · 2 incl. sub-types Sub-types →
  • Peters anomaly 1 trial Sub-types →
  • Anterior segment dysgenesis 1 1 trial
  • Anterior segment dysgenesis 6 1 trial
  • Anterior segment dysgenesis 7 0 trials
  • Anterior segment dysgenesis 8 0 trials
  • Isolated iridoschisis 0 trials
• Precocious puberty 18 trials · 19 incl. sub-types
  3 sub-types

  • Central precocious puberty 9 trials · 10 incl. sub-types Sub-types →
  • Peripheral precocious puberty 0 trials · 1 incl. sub-types Sub-types →
  • Precocious puberty in female 0 trials
• Cleft lip and alveolus 17 trials
  1 sub-type

  • Orofacial cleft 5 0 trials
• Isolated short stature 16 trials
• Aorta coarctation 13 trials
  2 sub-types

  • Atypical coarctation of aorta 0 trials
  • Autosomal dominant coarctation of aorta 0 trials
• Microcephaly 4 trials · 13 incl. sub-types
  10 sub-types

  • Isolated congenital microcephaly 0 trials · 8 incl. sub-types Sub-types →
  • Microcephalic osteodysplastic primordial dwarfism 1 trial Sub-types →
  • Amish lethal microcephaly 0 trials
  • Isolated microcephaly 0 trials
  • Microcephaly and chorioretinopathy 0 trials Sub-types →
  • Microcephaly with intellectual disability 0 trials Sub-types →
  • Microcephaly with lissencephaly and/or hydranencephaly 0 trials Sub-types →
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
  • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia 0 trials
  • Microcephaly, seizures, and developmental delay 0 trials
• Anorectal malformation 10 trials
  5 sub-types

  • Hereditary anorectal anomalies 0 trials
  • Isolated anal canal duplication 0 trials
  • Non-syndromic anorectal malformation with rectourethral fistula, bulbar type 0 trials
  • Non-syndromic anorectal malformation with rectourethral fistula, prostatic type 0 trials
  • Rectal duplication 0 trials
• Multicystic dysplastic kidney 1 trial · 10 incl. sub-types
  2 sub-types

  • Bilateral multicystic dysplastic kidney 9 trials
  • Unilateral multicystic dysplastic kidney 0 trials
• Syndactyly 3 trials · 9 incl. sub-types
  2 sub-types

  • Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
  • Non-syndromic syndactyly 0 trials Sub-types →
• Polydactyly 2 trials · 9 incl. sub-types
  2 sub-types

  • Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
  • Non-syndromic polydactyly 0 trials · 1 incl. sub-types Sub-types →
• Aniridia 8 trials
  2 sub-types

  • Zazam Sheriff Phillips syndrome 0 trials
  • Isolated aniridia 0 trials Sub-types →
• Cerebral cortical dysplasia 2 trials · 7 incl. sub-types
  2 sub-types

  • Isolated focal cortical dysplasia 5 trials · 6 incl. sub-types Sub-types →
  • Central bilateral macrogyria 0 trials
• Familial isolated congenital asplenia 6 trials
• Imperforate anus 6 trials
• Septate uterus 6 trials
  2 sub-types

  • Complete septate uterus 0 trials
  • Partial septate uterus 0 trials
• Congenital primary megaureter 5 trials
  5 sub-types

  • Congenital primary megaureter, nonrefluxing and unobstructed form 0 trials
  • Congenital primary megaureter, obstructed form 0 trials
  • Congenital primary megaureter, refluxing and obstructed form 0 trials
  • Congenital primary megaureter, refluxing form 0 trials
  • Primary megaureter, adult-onset form 0 trials
• Congenital portosystemic shunt 4 trials
  1 sub-type

  • Patent ductus venosus 0 trials
• Diabetic embryopathy 4 trials
  1 sub-type

  • Preaxial hallucal polydactyly 0 trials
• Familial partial lipodystrophy, Dunnigan type 4 trials
• Camptodactyly of fingers 3 trials
• Congenital pulmonary airway malformation 3 trials
  5 sub-types

  • Congenital pulmonary airway malformation type 0 0 trials
  • Congenital pulmonary airway malformation type 1 0 trials
  • Congenital pulmonary airway malformation type 2 0 trials
  • Congenital pulmonary airway malformation type 3 0 trials
  • Congenital pulmonary airway malformation type 4 0 trials
• Megalencephaly 3 trials
  4 sub-types

  • Bagatelle Cassidy syndrome 0 trials
  • Isolated megalencephaly 0 trials
  • Macrocephaly/megalencephaly syndrome, autosomal recessive 0 trials
  • Megalencephaly, autosomal dominant 0 trials
• Congenital hydrocephalus 1 trial · 3 incl. sub-types
  8 sub-types

  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 1 trial
  • Hydrocephalus, nonsyndromic, autosomal recessive 1 1 trial
  • Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius 0 trials
  • Congenital communicating hydrocephalus 0 trials
  • Congenital non-communicating hydrocephalus 0 trials
  • Hydrocephalus, congenital, 3, with brain anomalies 0 trials
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 0 trials
  • Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
• Aicardi 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
• Congenital deformities of limbs 2 trials
  2 sub-types

  • Congenital bowing of long bones 0 trials Sub-types →
  • Congenital vertical talus 0 trials Sub-types →
• Constitutional delay of growth and puberty 2 trials
• Duodenal atresia 2 trials
• Renal agenesis 1 trial · 2 incl. sub-types
  6 sub-types

  • Bilateral renal agenesis 2 trials Sub-types →
  • Renal agenesis, unilateral 0 trials
  • Renal hypodysplasia/aplasia 1 0 trials
  • Renal hypodysplasia/aplasia 2 0 trials
  • Renal hypodysplasia/aplasia 3 0 trials
  • Renal hypodysplasia/aplasia 4 0 trials
• Congenital knee dislocation 0 trials · 2 incl. sub-types
  2 sub-types

  • Congenital genu recurvatum 2 trials
  • Congenital genu flexum 0 trials
• Congenital tricuspid malformation 0 trials · 2 incl. sub-types
  10 sub-types

  • Ebstein anomaly 2 trials
  • Accessory tricuspid valve tissue 0 trials
  • Anomaly of the tricuspid valve chordae 0 trials
  • Cardiac valvular dysplasia, X-linked 0 trials
  • Congenital tricuspid stenosis 0 trials
  • Parachute tricuspid valve 0 trials
  • Straddling or overriding tricuspid valve 0 trials
  • Tricuspid atresia 0 trials
  • Tricuspid valve agenesis 0 trials
  • Tricuspid valve prolapse 0 trials
• Hereditary gingival fibromatosis 0 trials · 2 incl. sub-types
  6 sub-types

  • Fibromatosis, gingival, 2 2 trials
  • Fibromatosis, gingival, 1 0 trials
  • Fibromatosis, gingival, 3 0 trials
  • Fibromatosis, gingival, 4 0 trials
  • Fibromatosis, gingival, 5 0 trials
  • Fibromatosis, gingival, 6 0 trials
• COACH syndrome 1 trial
  3 sub-types

  • COACH syndrome 1 0 trials
  • COACH syndrome 2 0 trials
  • COACH syndrome 3 0 trials
• DNA ligase IV deficiency 1 trial
• Rothmund-Thomson syndrome 1 trial
  4 sub-types

  • Rothmund-Thomson syndrome type 1 0 trials
  • Rothmund-Thomson syndrome type 2 0 trials
  • Rothmund-Thomson syndrome type 3 0 trials
  • Rothmund-Thomson syndrome type 4 0 trials
• T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 1 trial
• Agenesis and aplasia of uterine body 1 trial
• Amelogenesis imperfecta type 1G 1 trial
• Bronchogenic cyst 1 trial
• Colonic atresia 1 trial
• Congenital bilateral absence of vas deferens 1 trial
  3 sub-types

  • Congenital bilateral aplasia of vas deferens from CFTR mutation 0 trials
  • Vas deferens, congenital bilateral aplasia of, X-linked 0 trials
  • Vas deferens, congenital unilateral aplasia of 0 trials
• Horizontal gaze palsy with progressive scoliosis 1 trial
  2 sub-types

  • Gaze palsy, familial horizontal, with progressive scoliosis 1 0 trials
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 0 trials
• Hypohidrotic ectodermal dysplasia 1 trial
  4 sub-types

  • X-linked hypohidrotic ectodermal dysplasia 0 trials
  • Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials Sub-types →
  • Autosomal recessive hypohidrotic ectodermal dysplasia 0 trials Sub-types →
  • Ectodermal dysplasia and immune deficiency 0 trials Sub-types →
• Isolated cerebellar hypoplasia/agenesis 1 trial
• Isolated congenital femoral bifurcation 1 trial
• Isolated micropenis 1 trial
• Low anorectal malformation 1 trial
• Macrocephaly-autism syndrome 1 trial
• Medullary sponge kidney 1 trial
• Megalodactyly 1 trial
• Primary basilar invagination 1 trial
• Renal hypoplasia 1 trial
  2 sub-types

  • Renal hypoplasia, bilateral 0 trials
  • Renal hypoplasia, unilateral 0 trials
• 46,XY complete gonadal dysgenesis 0 trials · 1 incl. sub-types
  12 sub-types

  • 46,XY sex reversal 5 1 trial
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 0 trials
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 0 trials
  • 46,XY sex reversal 1 0 trials
  • 46,XY sex reversal 10 0 trials
  • 46,XY sex reversal 11 0 trials
  • 46,XY sex reversal 2 0 trials
  • 46,XY sex reversal 3 0 trials
  • 46,XY sex reversal 4 0 trials
  • 46,XY sex reversal 6 0 trials
  • 46,XY sex reversal 7 0 trials
  • 46,XY sex reversal 9 0 trials
• Berardinelli-Seip congenital lipodystrophy 0 trials · 1 incl. sub-types
  4 sub-types

  • Congenital generalized lipodystrophy type 3 1 trial
  • PPARG-associated congenital generalized lipodystrophy 0 trials
  • Congenital generalized lipodystrophy type 1 0 trials
  • Congenital generalized lipodystrophy type 2 0 trials
• L1 syndrome 0 trials · 1 incl. sub-types
  4 sub-types

  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 1 trial
  • MASA syndrome 0 trials
  • X-linked complicated corpus callosum dysgenesis 0 trials
  • X-linked complicated spastic paraplegia type 1 0 trials
• Cephalocele 0 trials · 1 incl. sub-types
  2 sub-types

  • Isolated encephalocele 1 trial Sub-types →
  • Meningoencephalocele 0 trials
• Hereditary lethal multiple congenital anomalies/dysmorphic syndrome 0 trials · 1 incl. sub-types
  10 sub-types

  • Meckel syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Bartsocas-Papas syndrome 1 0 trials
  • Edinburgh malformation syndrome 0 trials
  • Stromme syndrome 0 trials
  • Thakker-Donnai syndrome 0 trials
  • Endocrine-cerebro-osteodysplasia syndrome 0 trials
  • Lethal hydranencephaly-diaphragmatic hernia syndrome 0 trials
  • Lethal polymalformative syndrome, Boissel type 0 trials
  • Microphthalmia microtia fetal akinesia 0 trials
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
• Multiple intestinal atresia 0 trials · 1 incl. sub-types
  1 sub-type

  • Gastrointestinal defect and immunodeficiency syndrome 0 trials · 1 incl. sub-types Sub-types →
• Pancreatic agenesis 0 trials · 1 incl. sub-types
  4 sub-types

  • Pancreatic agenesis 1 1 trial
  • Pancreas, dorsal, agenesis of 0 trials
  • Pancreatic agenesis 2 0 trials
  • Pancreatic agenesis 3 0 trials
• Bloom syndrome 0 trials
• CK syndrome 0 trials
• Chudley-McCullough syndrome 0 trials
• Eng-Strom syndrome 0 trials
• Fowler syndrome 0 trials
• Jalili syndrome 0 trials
• Lowe-Kohn-Cohen syndrome 0 trials
• Morgagni-Stewart-Morel syndrome 0 trials
• Nance-Horan syndrome 0 trials
• Ogden syndrome 0 trials
• X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 0 trials
• Acalvaria 0 trials
• Aneurysm of sinus of Valsalva 0 trials
• Aprosencephaly 0 trials
• Atelencephaly 0 trials
• Atresia of small intestine 0 trials
• Atypical Werner syndrome 0 trials
• Autosomal recessive frontotemporal pachygyria 0 trials
• Axial mesodermal dysplasia spectrum 0 trials
• Bicornuate uterus 0 trials
  1 sub-type

  • Didelphys uterus 0 trials Sub-types →
• Biliary atresia with splenic malformation syndrome 0 trials
• Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 0 trials
• Brachydactyly 0 trials
  22 sub-types

  • Ballard syndrome 0 trials
  • Berk-Tabatznik syndrome 0 trials
  • Cooks syndrome 0 trials
  • Osebold-Remondini syndrome 0 trials
  • Brachydactyly type A1 0 trials
  • Brachydactyly type A1A 0 trials
  • Brachydactyly type A1B 0 trials
  • Brachydactyly type A1C 0 trials
  • Brachydactyly type A1D 0 trials
  • Brachydactyly type A2 0 trials
  • Brachydactyly type A3 0 trials
  • Brachydactyly type A4 0 trials
  • Brachydactyly type A5 0 trials
  • Brachydactyly type A7 0 trials
  • Brachydactyly type B 0 trials Sub-types →
  • Brachydactyly type C 0 trials
  • Brachydactyly type D 0 trials
  • Brachydactyly type E 0 trials Sub-types →
  • Brachydactyly-arterial hypertension syndrome 0 trials
  • Camptobrachydactyly 0 trials
  • Non-syndromic brachydactyly 0 trials Sub-types →
  • Preaxial digit brachydactyly-webbed fingers 0 trials
• Branchial arch disease 0 trials
• Cardiac valvular defect, developmental 0 trials
• Cartilage development disorder 0 trials
• Cataract - congenital heart disease - neural tube defect syndrome 0 trials
• Cleft palate-stapes fixation-oligodontia syndrome 0 trials
• Complex cortical dysplasia with other brain malformations 0 trials
  12 sub-types

  • Complex cortical dysplasia with other brain malformations 1 0 trials
  • Complex cortical dysplasia with other brain malformations 2 0 trials
  • Complex cortical dysplasia with other brain malformations 3 0 trials
  • Complex cortical dysplasia with other brain malformations 4 0 trials
  • Complex cortical dysplasia with other brain malformations 5 0 trials
  • Complex cortical dysplasia with other brain malformations 6 0 trials
  • Complex cortical dysplasia with other brain malformations 7 0 trials
  • Cortical dysplasia, complex, with other brain malformations 10 0 trials
  • Cortical dysplasia, complex, with other brain malformations 11 0 trials
  • Cortical dysplasia, complex, with other brain malformations 12 0 trials
  • Cortical dysplasia, complex, with other brain malformations 9 0 trials
  • Polymicrogyria with optic nerve hypoplasia 0 trials
• Congenital absence of septum pellucidum 0 trials
• Congenital achiasma 0 trials
• Congenital agenesis of the scrotum 0 trials
• Congenital anomaly of hepatic vein 0 trials
• Congenital anomaly of superior vena cava 0 trials
  7 sub-types

  • Absence of innominate vein 0 trials
  • Agenesis of the superior vena cava 0 trials
  • Left superior vena cava persisting to left-sided atrium 0 trials
  • Persistent left superior vena cava connecting to the left-sided atrium 0 trials
  • Primary superior vena cava aneurysm 0 trials
  • Right superior vena cava connecting to left-sided atrium 0 trials
  • Subaortic course of innominate vein 0 trials
• Congenital aortic valve insufficiency 0 trials
• Congenital bronchobiliary fistula 0 trials
• Congenital elbow dislocation 0 trials
  2 sub-types

  • Congenital elbow dislocation, bilateral 0 trials
  • Congenital elbow dislocation, unilateral 0 trials
• Congenital esophageal diverticulum 0 trials
• Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
• Congenital high airway obstruction syndrome 0 trials
• Congenital microgastria 0 trials
• Congenital patella dislocation 0 trials
  2 sub-types

  • Congenital patella dislocation, bilateral 0 trials
  • Congenital patella dislocation, unilateral 0 trials
• Congenital peritoneal encapsulation 0 trials
• Congenital short bowel syndrome 0 trials
  2 sub-types

  • Congenital short bowel syndrome, autosomal recessive 0 trials
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 trials
• Congenital shoulder dislocation 0 trials
• Cordiform uterus 0 trials
• Coronary sinus atresia 0 trials
• Coronary sinus stenosis 0 trials
• Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 0 trials
• Craniodiaphyseal dysplasia 0 trials
• Craniofacial dysplasia - osteopenia syndrome 0 trials
• Craniofacial dyssynostosis 0 trials
• Craniorachischisis 0 trials
• Deafness-oligodontia syndrome 0 trials
• Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 0 trials
• Diencephalic-mesencephalic junction dysplasia 0 trials
  2 sub-types

  • Diencephalic-mesencephalic junction dysplasia syndrome 1 0 trials
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 0 trials
• Diphallia 0 trials
• Diprosopus 0 trials
• Distal symphalangism 0 trials
• Double uterus-hemivagina-renal agenesis syndrome 0 trials
• Duplication of the pituitary gland 0 trials
• Duplication of urethra 0 trials
• Epibulbar lipodermoid-preauricular appendage-polythelia syndrome 0 trials
• Familial intestinal malrotation-facial anomalies syndrome 0 trials
• Familial isolated clinodactyly of fingers 0 trials
• Familial median cleft of the upper and lower lips 0 trials
• Familial omphalocele syndrome with facial dysmorphism 0 trials
• Familial osteodysplasia, Anderson type 0 trials
• Familial primary pulmonary hypoplasia 0 trials
• Gingival fibromatosis-progressive deafness syndrome 0 trials
• High anorectal malformation 0 trials
• Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 0 trials
• Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 0 trials
• Intermediate anorectal malformation 0 trials
• Isolated cleft lip 0 trials
  2 sub-types

  • Orofacial cleft 3 0 trials
  • Orofacial cleft 5 0 trials
• Isolated congenital digital clubbing 0 trials
• Isolated congenital syngnathia 0 trials
• Isolated partial vaginal agenesis 0 trials
• Isolated splenogonadal fusion 0 trials
• Lissencephaly spectrum disorders 0 trials
  14 sub-types

  • Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
  • Warburg micro syndrome 0 trials Sub-types →
  • X-linked lissencephaly with abnormal genitalia 0 trials
  • Classic lissencephaly 0 trials Sub-types →
  • Cobblestone lissencephaly 0 trials Sub-types →
  • Craniotelencephalic dysplasia 0 trials
  • Lissencephaly 10 0 trials
  • Lissencephaly 7 with cerebellar hypoplasia 0 trials
  • Lissencephaly 8 0 trials
  • Lissencephaly spectrum disorder with complex brainstem malformation 0 trials Sub-types →
  • Lissencephaly type 3 0 trials Sub-types →
  • Lissencephaly with cerebellar hypoplasia 0 trials Sub-types →
  • Massa casaer ceulemans syndrome 0 trials
  • Microlissencephaly 0 trials Sub-types →
• Longitudinal vaginal septum 0 trials
• Loose anagen syndrome 0 trials
  1 sub-type

  • Noonan syndrome-like disorder with loose anagen hair 0 trials Sub-types →
• Lower limb hypertrophy 0 trials
• Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
• Macrodactyly of fingers 0 trials
  2 sub-types

  • Macrodactyly of fingers, bilateral 0 trials
  • Macrodactyly of fingers, unilateral 0 trials
• Macrodactyly of toes 0 trials
  2 sub-types

  • Macrodactyly of toes, bilateral 0 trials
  • Macrodactyly of toes, unilateral 0 trials
• Maternal hyperthermia induced birth defects 0 trials
• Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 0 trials
• Mulibrey nanism 0 trials
• Natal teeth-intestinal pseudoobstruction-patent ductus syndrome 0 trials
• Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 0 trials
• Oculocerebral hypopigmentation syndrome, Cross type 0 trials
• Oculodental syndrome, Rutherfurd type 0 trials
• Odontomatosis-aortae esophagus stenosis syndrome 0 trials
• Otodental syndrome 0 trials
• Penoscrotal transposition 0 trials
• Pericardial and diaphragmatic defect 0 trials
• Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 trials
• Postaxial polydactyly-dental and vertebral anomalies syndrome 0 trials
• Posterior hypospadias 0 trials
• Progeroid features-hepatocellular carcinoma predisposition syndrome 0 trials
• Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
• Pulmonary agenesis 0 trials
• Renal dysplasia 0 trials
  2 sub-types

  • Renal dysplasia, bilateral 0 trials
  • Renal dysplasia, unilateral 0 trials
• Renal tubular dysgenesis of genetic origin 0 trials
  1 sub-type

  • Renal tubular dysgenesis - ACE 0 trials
• Steatocystoma multiplex-natal teeth syndrome 0 trials
• Steroid dehydrogenase deficiency-dental anomalies syndrome 0 trials
• Subaortic stenosis, membranous 0 trials
• Thumb deformity-alopecia-pigmentation anomaly syndrome 0 trials
• Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0 trials
• Tracheal agenesis 0 trials
• Transverse vaginal septum 0 trials
• Upper limb hypertrophy 0 trials
• Uterine cervical aplasia and agenesis 0 trials
• Uterine hypoplasia 0 trials
• Vaginal atresia 0 trials