Rare Disease Library

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Genetic central nervous system and retinal vascular disease

Genetic non-syndromic central nervous system malformation

Germinoma of the central nervous system

Non-syndromic central nervous system malformation

OBSOLETE: Cardiomyopathy-renal anomalies syndrome

Rare central nervous system and retinal vascular disease

Syndrome with a central nervous system malformation as a major feature