Visualize Submit Comment

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
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance