Visualize Submit Comment

Metadata
ID	DOID:0080438
Name	developmental and epileptic encephalopathy 5
Definition	A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457
Xrefs	OMIM:613477
Synonyms	DEE5 [EXACT] early infantile epileptic encephalopathy 5 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease