developmental and epileptic encephalopathy 102

Term ID

DOID:0070388

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. https://pubmed.ncbi.nlm.nih.gov/34605855/

References

• OMIM:619881

Ontology

Human Disease   ( DOID:0070388 )