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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
:
slc25a12
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)