|
DOID:0070388 - developmental and epileptic encephalopathy 102
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.
Synonyms: DEE102, early infantile epileptic encephalopathy 102,
Xenbase Genes
:
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)