Rare Disease Library

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

SLC35A3-CDG

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Fetal alcohol syndrome

ARBD · ARND

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

Peroxisome biogenesis disorder

Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

Rare autonomic nervous system disorder

Rare choroidal disorder

Rare corneal disorder

Rare disease with autism

Rare disorder with ectropion

Rare disorder with strabismus

Rare dystonia

Rare dystonic disorder

Rare hemorrhagic disorder

Rare bleeding disorder

Rare macular disorder

Rare movement disorder

Rare palpebral disorder

Rare retinal disorder

Rare scleral disorder

Rare sleep disorder

Rare tremor disorder

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome