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Human Disease

developmental and epileptic encephalopathy 95

Term ID
DOID:0070382
Synonyms
  • DEE95
  • early infantile 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. https://pubmed.ncbi.nlm.nih.gov/30269814/
References
Ontology
Human Disease   ( DOID:0070382 )
Relationships
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Genes Involved
Zebrafish Models