developmental and epileptic encephalopathy 48

Summary

DOID:0080448 - developmental and epileptic encephalopathy 48

Disease Ontology 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.

Synonyms: DEE48, early infantile epileptic encephalopathy 48

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ap3b2

MIM:

MIM:617276 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48

MIM:617276 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), developmental and epileptic encephalopathy (is_a)