Metadata | |
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ID | DOID:0070393 |
Name | developmental and epileptic encephalopathy 107 |
Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/26235277/, https://pubmed.ncbi.nlm.nih.gov/28097321/, https://pubmed.ncbi.nlm.nih.gov/33189936/ |
Xrefs | |
Synonyms |
DEE107 [EXACT] early infantile epileptic encephalopathy 107 [EXACT] |
Parent Relationships |