Version: 8.1.0
Date: Fri Apr 18 2025
developmental and epileptic encephalopathy 102
DOID:0070388
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • DEE102
  • early infantile epileptic encephalopathy 102
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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