Visualize Submit Comment

Metadata
ID	DOID:0080460
Name	developmental and epileptic encephalopathy 34
Definition	A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769
Xrefs	OMIM:616645
Synonyms	DEE34 [EXACT] early infantile epileptic encephalopathy 34 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease