Term Name: | developmental and epileptic encephalopathy 95 |
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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. |
Ontology: | Human Disease [DOID:0070382] ( DOID:0070382 ) |