Rare Disease Library

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Cerebrorenal syndrome, Perez type

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Spinocerebellar ataxia-dysmorphism syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS