Visualize Submit Comment

Metadata
ID	DOID:0080428
Name	developmental and epileptic encephalopathy 45
Definition	A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/31618474/, https://www.ncbi.nlm.nih.gov/pubmed/23934111
Xrefs	MIM:617153
Synonyms	DEE45 [EXACT] early infantile epileptic encephalopathy 45 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease