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"

13 matching diseasesClear search ×

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

ORPHA:280620

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

ORPHA:163696

Lafora disease

EPM2 · PME type 2

ORPHA:501

Non progressive epilepsy and/or ataxia with myoclonus as a major feature

ORPHA:306759

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

ORPHA:324290

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

ORPHA:98261

Progressive myoclonic epilepsy type 1

Unverricht-Lundborg disease · EPM1

ORPHA:308

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

ORPHA:263516

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

ORPHA:402082

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

ORPHA:435438

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

ORPHA:424027

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9

ORPHA:457265

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

ORPHA:352596