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Metadata
ID DOID:0112223
Name developmental and 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 GAD1 on chromosome 2q31.1.
https://pubmed.ncbi.nlm.nih.gov/32282878/
Xrefs

OMIM:619124

Synonyms

DEE89 [EXACT]

early infantile epileptic encephalopathy 89 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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