Metadata | |
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ID | DOID:0070391 |
Name | developmental and epileptic encephalopathy 105 |
Definition | A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/33999436/ |
Xrefs | |
Synonyms |
DEE105 [EXACT] early infantile epileptic encephalopathy 105 [EXACT] |
Parent Relationships |