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Metadata
ID DOID:0111444
Name progressive myoclonus epilepsy 4
Definition A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1.
https://www.ncbi.nlm.nih.gov/pubmed/15364701, https://www.ncbi.nlm.nih.gov/pubmed/19847901
Xrefs

MESH:D020191

OMIM:254900

ORDO:163696

SNOMEDCT_US_2019_09_01:764453009

UMLS_CUI:C0751779

Synonyms

action myoclonus-renal failure syndrome [EXACT]

AMRF [EXACT]

EPM4 [EXACT]

Myoclonus-nephropathy syndrome [EXACT]

Parent Relationships

is_a progressive myoclonus epilepsy

is_a autosomal recessive disease

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