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Human Disease

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
Ontology
Human Disease   ( DOID:0070388 )
Relationships
is a type of
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Genes Involved
Zebrafish Models