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Metadata
ID DOID:0111448
Name progressive myoclonus epilepsy 1B
Definition An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.
https://www.ncbi.nlm.nih.gov/pubmed/18976727
Xrefs

MIM:612437

Synonyms

EPM1B [EXACT]

Parent Relationships

is_a Unverricht-Lundborg syndrome

is_a autosomal recessive disease

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