developmental and epileptic encephalopathy 82

Summary

DOID:0080715 - developmental and epileptic encephalopathy 82

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.

Synonyms: DEE82, early infantile epileptic encephalopathy 82

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

MIM:

MIM:618721 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82

MIM:618721 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82

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)