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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
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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