Visualize Submit Comment

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	MIM:619881
Synonyms	DEE102 [EXACT] early infantile epileptic encephalopathy 102 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease