Term Name: developmental and epileptic encephalopathy 102
Synonyms: DEE102, early infantile epileptic encephalopathy 102
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.
Ontology: Human Disease [DOID:0070388]   ( DOID:0070388 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy