Rare Disease Library

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

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

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Rare bone development disorder

Rare skeletal development disorder

Rare genetic bone development disorder

Rare genetic skeletal development disorder

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

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

TM2D3-related neurodevelopmental disorder

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest