developmental and epileptic encephalopathy 39

Summary

DOID:0080349 - developmental and epileptic encephalopathy 39

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.

Synonyms: AGC1 deficiency, early infantile epileptic encephalopathy 39, epileptic encephalopathy with global cerebral demyelination

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

: slc25a12

MIM:

MIM:612949 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; DEE39

MIM:612949 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; DEE39

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)