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Metadata
ID DOID:0111446
Name progressive myoclonus epilepsy 3
Definition A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.
https://www.ncbi.nlm.nih.gov/pubmed/17455289, https://www.ncbi.nlm.nih.gov/pubmed/22748208
Xrefs

GARD:2167

MESH:C567095

OMIM:611726

ORDO:263516

UMLS_CUI:C2673257

Synonyms

CLN14 disease [EXACT]

EPM3 [EXACT]

neuronal ceroid lipofuscinosis 14 [EXACT]

PME type 3 [EXACT]

Progressive myoclonic epilepsy due to KCTD7 deficiency [EXACT]

Progressive myoclonus epilepsy type 3 [EXACT]

Parent Relationships

is_a progressive myoclonus epilepsy

is_a autosomal recessive disease

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