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Metadata
ID DOID:0080432
Name developmental and epileptic encephalopathy 60
Definition A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
https://www.ncbi.nlm.nih.gov/pubmed/29394991
Xrefs

MIM:617929

Synonyms

DEE60 [EXACT]

early infantile epileptic encephalopathy 60 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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