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"

5 matching diseasesClear search ×

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

ORPHA:1935

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

ORPHA:1934

Early-onset progressive encephalopathy with migrant continuous myoclonus

ORPHA:1943

Myoclonic epilepsy in non-progressive encephalopathies

Myoclonus epilepsy in non-progressive encephalopathies · Myoclonic status in non-progressive encephalopathies

ORPHA:86913

OBSOLETE: Early infantile epileptic encephalopathy without suppression burst

ORPHA:369894