| Metadata | |
|---|---|
| ID | DOID:0070388 |
| Name | developmental and 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. https://pubmed.ncbi.nlm.nih.gov/34605855/ |
| Xrefs | |
| Synonyms |
DEE102 [EXACT] early infantile epileptic encephalopathy 102 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |