Metadata | |
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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 | |
Synonyms |
DEE109 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |