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Summary Literature (0)
DOID:0111452 - progressive myoclonus epilepsy 1A

Disease Ontology Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.

Synonyms: EPM1A

Xenbase Genes : cstb


MIM:
MIM:254800 - MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), Unverricht-Lundborg syndrome (is_a)