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"

4 matching diseasesClear search ×

Epilepsy with auditory features

Autosomal dominant epilepsy with auditory features · EAF

ORPHA:101046

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

ORPHA:371071

Familial focal epilepsy with variable foci

FFEVF · Familial partial epilepsy with variable foci

ORPHA:98820

Familial partial epilepsy

ORPHA:309