Rare Disease Library

H syndrome

Helsmoortel-Van der Aa syndrome

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

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

N syndrome

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Sotos syndrome

Cerebral gigantism

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

Triple A syndrome

2A syndrome · 3A syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

W syndrome

Pallister-W syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21