Rare Disease Library

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

CHD4-related neurodevelopmental disorder

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

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

FOSL2-related neurodevelopmental disorder

CTCF-related neurodevelopmental disorder

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-expressive aphasia-facial dysmorphism syndrome

SETBP1 haploinsufficiency disorder · Intellectual disability-loss of expressive language-facial dysmorphism syndrome

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

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

DYNC1I2-related neurodevelopmental 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

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

PLAA-associated neurodevelopmental disorder

PLAAND

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

TM2D3-related neurodevelopmental disorder