Metadata | |
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ID | DOID:0070395 |
Name | developmental and epileptic encephalopathy 110 |
Definition | A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/35293990/ |
Xrefs | |
Synonyms |
DEE110 [EXACT] early infantile epileptic encephalopathy 110 [EXACT] |
Parent Relationships |