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Metadata
ID DOID:0070378
Name developmental and epileptic encephalopathy 109
Definition A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/34788397/
Xrefs

MIM:620145

Synonyms

DEE109 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a developmental and epileptic encephalopathy

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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