Rare Disease Library

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

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

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies · BPTF-related NEDDFL

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

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

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

CHD4-related neurodevelopmental disorder

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

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

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

FOSL2-related neurodevelopmental disorder

CTCF-related neurodevelopmental disorder

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

NR4A2-related neurodevelopmental syndrome

Difference of sex development

DSD · Disorder of sex development

Fetal alcohol syndrome

ARBD · ARND

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

TMEM147-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

Human herpesvirus 8-related disorder

HHV-8-related 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-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

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

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

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

DYNC1I2-related neurodevelopmental disorder

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

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

PLAA-associated neurodevelopmental disorder

PLAAND

Rare bone development disorder

Rare skeletal development disorder

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

RERE-related neurodevelopmental syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

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

TM2D3-related neurodevelopmental disorder

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS