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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 the GAD1 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/32282878/
Xrefs	MIM:619124
Synonyms	DEE89 [EXACT] early infantile epileptic encephalopathy 89 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease