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Metadata
ID DOID:0112203
Name developmental and epileptic encephalopathy 67
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12.
https://pubmed.ncbi.nlm.nih.gov/29630738/
Xrefs

OMIM:618141

Synonyms

DEE67 [EXACT]

early infantile epileptic encephalopathy 67 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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