Visualize Submit Comment

Metadata
ID	DOID:0080441
Name	developmental and epileptic encephalopathy 49
Definition	A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/27866705
Xrefs	MIM:617281
Synonyms	DEE49 [EXACT] early infantile epileptic encephalopathy 49 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease