| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |