Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Cerebellar ataxia, Cayman type

Cayman ataxia

ORPHA:94122

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

ORPHA:404499

Rare ataxia

ORPHA:102002