developmental and epileptic encephalopathy 89

Term ID

DOID:0112223

Synonyms

• DEE89
• early infantile epileptic encephalopathy 89

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/32282878/

References

• OMIM:619124

Ontology

Human Disease   ( DOID:0112223 )