Metadata | |
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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 | |
Synonyms |
DEE60 [EXACT] early infantile epileptic encephalopathy 60 [EXACT] |
Parent Relationships |