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Metadata
ID DOID:0070394
Name developmental and epileptic encephalopathy 108
Definition A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/34185323/, https://pubmed.ncbi.nlm.nih.gov/35095415/
Xrefs

MIM:620115

Synonyms

DEE108 [EXACT]

early infantile epileptic encephalopathy 108 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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