Rare Disease Library

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

FOSL2-related neurodevelopmental disorder

CTCF-related neurodevelopmental disorder

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Fetal alcohol syndrome

ARBD · ARND

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ZNF148-related neurodevelopmental disorder

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

GRIN2B-Related Neurodevelopmental Disorder

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

Macrocephaly-developmental delay syndrome

Marbach-Schaaf neurodevelopmental syndrome

Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

MYT1L-related developmental delay-intellectual disability-obesity syndrome

MYT1L-associated neurodevelopmental disorder

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

SLC4A10-related neurodevelopmental disorder

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Noonan syndrome and Noonan-related syndrome

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Okur-Chung neurodevelopmental syndrome

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome