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Metadata
ID	DOID:0070382
Name	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. https://pubmed.ncbi.nlm.nih.gov/30269814/
Xrefs	MIM:618143
Synonyms	DEE95 [EXACT] early infantile epileptic encephalopathy 95 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease