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Metadata
ID DOID:0080440
Name developmental and epileptic encephalopathy 3
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/15592994
Xrefs

MIM:609304

Synonyms

early infantile epileptic encephalopathy 3 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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