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Metadata
ID DOID:0111452
Name progressive myoclonus epilepsy 1A
Definition An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
https://www.ncbi.nlm.nih.gov/pubmed/8596935
Xrefs

OMIM:254800

Synonyms

EPM1A [EXACT]

Parent Relationships

is_a Unverricht-Lundborg syndrome

is_a autosomal recessive disease

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