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

• MIM:618143

Ontology

Human Disease   ( DOID:0070382 )