Term Name: developmental and epileptic encephalopathy 95
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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy