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DOID DOID:0080470
Name early infantile epileptic encephalopathy 36
Definition An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
https://www.ncbi.nlm.nih.gov/pubmed/23033978, https://www.ncbi.nlm.nih.gov/pubmed/26138355
Xrefs

GARD:12401

OMIM:300884

ORDO:324422

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is_a early infantile epileptic encephalopathy

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