Visualize
Metadata
DOID DOID:0080459
Name early infantile epileptic encephalopathy 12
Definition An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
https://www.ncbi.nlm.nih.gov/pubmed/20833646
Xrefs

OMIM:613722

Relationships

is_a early infantile epileptic encephalopathy

Add an item to the term tracker