Visualize Submit Comment

Metadata
ID	DOID:0080448
Name	developmental and epileptic encephalopathy 48
Definition	A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/27889060
Xrefs	OMIM:617276
Synonyms	DEE48 [EXACT] early infantile epileptic encephalopathy 48 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease