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Metadata
ID DOID:0080446
Name developmental and epileptic encephalopathy 66
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
https://www.ncbi.nlm.nih.gov/pubmed/29656858
Xrefs

OMIM:618067

Synonyms

DEE66 [EXACT]

early infantile epileptic encephalopathy 66 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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