Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Part of

Sub-types of Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

• Costello syndrome 7 trials
• Cardiofaciocutaneous syndrome 7 trials
  4 sub-types

  • Cardiofaciocutaneous syndrome 1 1 trial
  • Cardiofaciocutaneous syndrome 2 0 trials
  • Cardiofaciocutaneous syndrome 3 0 trials
  • Cardiofaciocutaneous syndrome 4 0 trials
• Smith-Lemli-Opitz syndrome 6 trials
• Creatine transporter deficiency 6 trials
• Smith-Magenis 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
• Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Syndromic X-linked intellectual disability Lubs type 3 trials
  1 sub-type

  • Chromosome Xq28 duplication syndrome 0 trials Sub-types →
• Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types
  2 sub-types

  • Pitt-Hopkins syndrome 3 trials
  • Pitt-Hopkins-like syndrome 0 trials Sub-types →
• KBG syndrome 2 trials
• Kabuki syndrome 2 trials
  2 sub-types

  • Kabuki syndrome 1 0 trials
  • Kabuki syndrome 2 0 trials
• Mowat-Wilson syndrome 2 trials
  2 sub-types

  • Mowat-Wilson syndrome due to a ZEB2 point mutation 0 trials
  • Mowat-Wilson syndrome due to monosomy 2q22 0 trials
• Acrocallosal syndrome 2 trials
• Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
• AICA-ribosiduria 1 trial
• Bannayan-Riley-Ruvalcaba syndrome 1 trial
• Bohring-Opitz 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
• Cohen syndrome 1 trial
• Fryns syndrome 1 trial
• Koolen-de Vries syndrome 1 trial
  2 sub-types

  • Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 1 trial
  • Koolen-de Vries syndrome due to a point mutation 0 trials
• MMEP syndrome 1 trial
• Schuurs-Hoeijmakers syndrome 1 trial
• Shprintzen-Goldberg syndrome 1 trial
• Autism spectrum disorder due to AUTS2 deficiency 1 trial
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
• Chromosome 15q13.3 microdeletion syndrome 1 trial
• Chromosome 15q24 deletion syndrome 1 trial
• Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
• Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
• Pseudoaminopterin syndrome 1 trial
• Syndromic X-linked intellectual disability 5 1 trial
• Trichorhinophalangeal syndrome type II 1 trial
• Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 0 trials · 1 incl. sub-types
  3 sub-types

  • Paternal uniparental disomy of chromosome 14 1 trial
  • Maternal 14q32.2 hypermethylation syndrome 0 trials
  • Maternal 14q32.2 microdeletion syndrome 0 trials
• 10p13-p14 deletion syndrome 0 trials
• 11p15.4 microduplication syndrome 0 trials
• 11q22.2q22.3 microdeletion syndrome 0 trials
• 13q12.3 microdeletion syndrome 0 trials
• 14q24.1q24.3 microdeletion syndrome 0 trials
• 15q overgrowth syndrome 0 trials
  2 sub-types

  • Distal tetrasomy 15q 0 trials
  • Distal trisomy 15q 0 trials
• 16p12.1p12.3 triplication syndrome 0 trials
• 19p13.3 microduplication syndrome 0 trials
• 1p35.2 microdeletion syndrome 0 trials
• 20p13 microdeletion syndrome 0 trials
• 20q11.2 microdeletion syndrome 0 trials
• 20q11.2 microduplication syndrome 0 trials
• 2p13.2 microdeletion syndrome 0 trials
• 2q13 microdeletion syndrome 0 trials
• 3MC syndrome 0 trials
  3 sub-types

  • 3MC syndrome 1 0 trials
  • 3MC syndrome 2 0 trials
  • 3MC syndrome 3 0 trials
• 3q26q28 deletion syndrome 0 trials
• 3q27.3 microdeletion syndrome 0 trials
• 5q14.3 microdeletion syndrome 0 trials
• 7p22.1 microduplication syndrome 0 trials
• 8q24.3 microdeletion syndrome 0 trials
• 9q31.1q31.3 microdeletion syndrome 0 trials
• 9q33.3q34.11 microdeletion syndrome 0 trials
• ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
• Ayme-Gripp syndrome 0 trials
• Baraitser-Winter cerebrofrontofacial syndrome 0 trials
  2 sub-types

  • Baraitser-Winter syndrome 1 0 trials
  • Baraitser-winter syndrome 2 0 trials
• Biemond syndrome type 2 0 trials
• Bonnemann-Meinecke-Reich syndrome 0 trials
• Bowen-Conradi syndrome 0 trials
• C syndrome 0 trials
• CHIME syndrome 0 trials
• CTCF-related neurodevelopmental disorder 0 trials
• Catel-Manzke syndrome 0 trials
• DYRK1A-related intellectual disability syndrome 0 trials
  2 sub-types

  • DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 0 trials
  • Intellectual disability syndrome due to a DYRK1A point mutation 0 trials
• DeSanto-Shinawi syndrome 0 trials
  2 sub-types

  • DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion 0 trials
  • DeSanto-Shinawi syndrome due to WAC point mutation 0 trials
• Dubowitz syndrome 0 trials
• Elsahy-Waters syndrome 0 trials
• FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 0 trials
• Filippi syndrome 0 trials
• Fine-Lubinsky syndrome 0 trials
• Floating-Harbor syndrome 0 trials
• GAPO syndrome 0 trials
• Gabriele de Vries syndrome 0 trials
• Goldberg-Shprintzen syndrome 0 trials
• Hall-Riggs syndrome 0 trials
• Harrod 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
• Houge-Janssens syndrome 1 0 trials
• Houge-Janssens syndrome 2 0 trials
• Jawad syndrome 0 trials
• Johanson-Blizzard syndrome 0 trials
• Johnson neuroectodermal syndrome 0 trials
• KAT6B-related multiple congenital anomalies syndrome 0 trials
• KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 0 trials
• Kapur-Toriello syndrome 0 trials
• Keutel syndrome 0 trials
• Kleefstra syndrome 0 trials
  3 sub-types

  • Kleefstra syndrome 1 0 trials Sub-types →
  • Kleefstra syndrome 2 0 trials
  • Kleefstra syndrome due to a point mutation 0 trials
• Lambert syndrome 0 trials
• Laurence-Moon syndrome 0 trials
• Lenz-Majewski hyperostotic dwarfism 0 trials
• Lowry-MacLean syndrome 0 trials
• Marden-Walker syndrome 0 trials
• Martsolf syndrome 1 0 trials
• McDonough syndrome 0 trials
• Myhre syndrome 0 trials
• N 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
• Oliver syndrome 0 trials
• Opitz G/BBB syndrome 0 trials
  1 sub-type

  • X-linked Opitz G/BBB syndrome 0 trials
• PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
• PRC-2 complex-related overgrowth spectrum 0 trials
• PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials
  2 sub-types

  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 0 trials
  • Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
• Peters plus syndrome 0 trials
• Pfeiffer-Palm-Teller syndrome 0 trials
• Pierpont syndrome 0 trials
• Pilarowski-Bjornsson syndrome 0 trials
• Ramos-Arroyo syndrome 0 trials
• Ritscher-Schinzel syndrome 0 trials
  4 sub-types

  • Ritscher-Schinzel syndrome 1 0 trials
  • Ritscher-Schinzel syndrome 2 0 trials
  • Ritscher-Schinzel syndrome 3 0 trials
  • Ritscher-Schinzel syndrome 4 0 trials
• SIN3A-related intellectual disability syndrome 0 trials
  1 sub-type

  • SIN3A-related intellectual disability syndrome due to a point mutation 0 trials
• SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 0 trials
  1 sub-type

  • Kilquist syndrome 0 trials
• SLC39A8-CDG 0 trials
• SSR4-congenital disorder of glycosylation 0 trials
• Say-Barber-Miller syndrome 0 trials
• Skraban-Deardorff syndrome 0 trials
• Stimmler syndrome 0 trials
• Stromme syndrome 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
• Tatton-Brown-Rahman overgrowth syndrome 0 trials
• Ulbright-Hodes syndrome 0 trials
• Warburg micro syndrome 0 trials
  4 sub-types

  • Warburg micro syndrome 1 0 trials
  • Warburg micro syndrome 2 0 trials
  • Warburg micro syndrome 3 0 trials
  • Warburg micro syndrome 4 0 trials
• Weaver syndrome 0 trials
• Weaver-Williams syndrome 0 trials
• Wiedemann-Rautenstrauch syndrome 0 trials
• Wiedemann-Steiner syndrome 0 trials
• Wolf-Hirschhorn syndrome 0 trials
• X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
• X-linked intellectual disability with marfanoid habitus 0 trials
• X-linked intellectual disability, Cabezas type 0 trials
• X-linked intellectual disability, Pai type 0 trials
• X-linked intellectual disability, Stevenson type 0 trials
• X-linked intellectual disability, Stoll type 0 trials
• X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
• X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
• X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
• X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
• X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
• X-linked intellectual disability-plagiocephaly syndrome 0 trials
• X-linked intellectual disability-short stature-overweight syndrome 0 trials
• XYLT1-congenital disorder of glycosylation 0 trials
• Xp22.13p22.2 duplication syndrome 0 trials
• ZTTK syndrome 0 trials
• Zechi-Ceide syndrome 0 trials
• Acrocardiofacial syndrome 0 trials
• Acrofacial dysostosis Rodriguez type 0 trials
• Acrofacial dysostosis, Catania type 0 trials
• Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
• Agnathia-otocephaly complex 0 trials
• Anencephaly 1 0 trials
• Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
• Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 0 trials
• Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 0 trials
• Arachnodactyly-abnormal ossification-intellectual disability syndrome 0 trials
• Ataxia-photosensitivity-short stature syndrome 0 trials
• Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
• Autosomal recessive spinocerebellar ataxia 20 0 trials
• Bird headed-dwarfism, Montreal type 0 trials
• Blepharonasofacial malformation syndrome 0 trials
• Blepharophimosis - intellectual disability syndrome 0 trials
  4 sub-types

  • 3p- syndrome 0 trials
  • ADNP-related blepharophimosis-intellectual disability syndrome 0 trials
  • Ohdo syndrome and variants 0 trials Sub-types →
  • Blepharophimosis - intellectual disability syndrome, Verloes type 0 trials
• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 0 trials
• Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
• Brain malformation-congenital heart disease-postaxial polydactyly syndrome 0 trials
• Camptodactyly syndrome, Guadalajara type 3 0 trials
• Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
• Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
• Cardiocranial syndrome, Pfeiffer type 0 trials
• Cataract-deafness-hypogonadism syndrome 0 trials
• Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
• Caudal appendage-deafness syndrome 0 trials
• Cerebellar-facial-dental syndrome 0 trials
• Cerebrooculonasal syndrome 0 trials
• Chromosome 16q22 deletion syndrome 0 trials
• Chromosome 17p13.3 duplication syndrome 0 trials
• Chromosome 17q21.31 duplication syndrome 0 trials
• Chromosome 19p13.13 deletion syndrome 0 trials
• Chromosome 19q13.11 deletion syndrome 0 trials
  2 sub-types

  • Chromosome 19q13.11 deletion syndrome, distal 0 trials
  • Chromosome 19q13.11 deletion syndrome, proximal 0 trials
• Chromosome 5p13 duplication syndrome 0 trials
• Chromosome 5q12 deletion syndrome 0 trials
• Chromosome 6pter-p24 deletion syndrome 0 trials
• Chromosome 8q21.11 deletion syndrome 0 trials
• Chromosome Xp11.23-p11.22 duplication syndrome 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 palate-short stature-vertebral anomalies syndrome 0 trials
• Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
• Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 0 trials
• Complex cortical dysplasia with other brain malformations 7 0 trials
• Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
• Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
• Congenital heart defect-round face-developmental delay syndrome 0 trials
• Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
• Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
• Cono-spondylar dysplasia 0 trials
• Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 0 trials
• Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
• Craniodigital syndrome-intellectual disability syndrome 0 trials
• Craniofaciofrontodigital syndrome 0 trials
• Cryptorchidism-arachnodactyly-intellectual disability syndrome 0 trials
• Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
• Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 0 trials
• Developmental and epileptic encephalopathy, 18 0 trials
• Developmental and epileptic encephalopathy, 23 0 trials
• Developmental and epileptic encephalopathy, 73 0 trials
• Distal 17p13.1 microdeletion syndrome 0 trials
• Dysmorphism-short stature-deafness-disorder of sex development syndrome 0 trials
• Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
• Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
• Epilepsy-microcephaly-skeletal dysplasia syndrome 0 trials
• Epilepsy-telangiectasia syndrome 0 trials
• Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
• Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 0 trials
• Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
• Facial dysmorphism-shawl scrotum-joint laxity syndrome 0 trials
• Faciocardiorenal syndrome 0 trials
• Fallot complex-intellectual disability-growth delay syndrome 0 trials
• Fountain syndrome 0 trials
• Genitopatellar syndrome 0 trials
• Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
• Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
• Hirsutism-skeletal dysplasia-intellectual disability 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
• Holoprosencephaly-radial heart renal anomalies syndrome 0 trials
• Hypertelorism, microtia, facial clefting syndrome 0 trials
• Hypomyelinating leukodystrophy 10 0 trials
• Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
• Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
• Hypotonia, ataxia, and delayed development syndrome 0 trials
• Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials
  3 sub-types

  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 trials
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
• Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
• Intellectual disability, Buenos-Aires type 0 trials
• Intellectual disability, Wolff type 0 trials
• Intellectual disability, X-linked, syndromic 33 0 trials
• Intellectual disability, autosomal dominant 47 0 trials
• Intellectual disability, autosomal dominant 48 0 trials
• Intellectual disability-balding-patella luxation-acromicria syndrome 0 trials
• Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 0 trials
• Intellectual disability-early-onset cataract-microcephaly syndrome 0 trials
• Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome 0 trials
• Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
• Intellectual disability-facial dysmorphism-hand anomalies syndrome 0 trials
• Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 0 trials
• Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 0 trials
• Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 0 trials
• Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 0 trials
• Intellectual disability-polydactyly-uncombable hair syndrome 0 trials
• Intellectual disability-seizures-macrocephaly-obesity syndrome 0 trials
• Intellectual disability-short stature-hypertelorism syndrome 0 trials
• Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
• Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
• Lethal multiple pterygium syndrome 0 trials
  1 sub-type

  • X-linked lethal multiple pterygium syndrome 0 trials
• Lethal omphalocele-cleft palate syndrome 0 trials
• Macrocephaly-developmental delay syndrome 0 trials
• Macrocephaly-short stature-paraplegia syndrome 0 trials
• Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
• Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
• Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 0 trials
• Mandibulofacial dysostosis-microcephaly syndrome 0 trials
• Marfanoid habitus-autosomal recessive intellectual disability syndrome 0 trials
• Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
• Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
• Microbrachycephaly-ptosis-cleft lip syndrome 0 trials
• Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
• Microcephaly-cardiomyopathy syndrome 0 trials
• Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 0 trials
• Microcephaly-cervical spine fusion anomalies syndrome 0 trials
• Microcephaly-cleft palate syndrome 0 trials
• Microcephaly-deafness-intellectual disability syndrome 0 trials
• Microcephaly-glomerulonephritis-marfanoid habitus syndrome 0 trials
• Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 0 trials
• Microcephaly-microcornea syndrome, Seemanova type 0 trials
• Microcephaly-seizures-intellectual disability-heart disease syndrome 0 trials
• Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 0 trials
• Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
• Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
• Microtriplication 11q24.1 0 trials
• Mucopolysaccharidosis-plus syndrome 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials
  4 sub-types

  • Developmental and epileptic encephalopathy, 77 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 trials
• Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 0 trials
• Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials
  2 sub-types

  • Au-Kline syndrome 0 trials
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 0 trials
• Neuroectodermal-endocrine syndrome 0 trials
• Neurofaciodigitorenal syndrome 0 trials
• Oculo-palato-cerebral syndrome 0 trials
• Oculocerebrodental syndrome 0 trials
• Oculocerebrofacial syndrome, Kaufman type 0 trials
• Omphalocele syndrome, Shprintzen-Goldberg type 0 trials
• Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 0 trials
• Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
• Orofaciodigital syndrome type 14 0 trials
• Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 0 trials
• Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
• Pancreatic agenesis-holoprosencephaly syndrome 0 trials
• Preaxial polydactyly-colobomata-intellectual disability syndrome 0 trials
• Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
• Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 trials
• Prominent glabella-microcephaly-hypogenitalism syndrome 0 trials
• Pseudoprogeria syndrome 0 trials
• Pterygium colli-intellectual disability-digital anomalies syndrome 0 trials
• Ptosis-syndactyly-learning difficulties syndrome 0 trials
• Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
• Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 0 trials
• Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 trials
• Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
• Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 0 trials
• Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
• Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
• Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
• Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
• Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
• Short stature-webbed neck-heart disease syndrome 0 trials
• Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 0 trials
• Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
• Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
• Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
• Syndromic X-linked intellectual disability 34 0 trials
• Syndromic X-linked intellectual disability 7 0 trials
• Syndromic X-linked intellectual disability Abidi type 0 trials
• Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
• Syndromic X-linked intellectual disability Shashi type 0 trials
• Syndromic X-linked intellectual disability Siderius type 0 trials
• Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
• Tall stature-intellectual disability-renal anomalies syndrome 0 trials
• Telecanthus-hypertelorism-strabismus-pes cavus syndrome 0 trials
• Temtamy syndrome 0 trials
• Transketolase deficiency 0 trials
• Upper limb defect-eye and ear abnormalities syndrome 0 trials
• Urban-Rogers-Meyer syndrome 0 trials
• Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
• Van Maldergem syndrome 0 trials
  2 sub-types

  • Van Maldergem syndrome 1 0 trials
  • Van Maldergem syndrome 2 0 trials
• Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 0 trials