Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 95
DOID:0070382
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 95

Definition
A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
Synonyms
  • DEE95
  • early infantile epileptic encephalopathy 95
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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