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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

MIM:619983

Synonyms

DEE105 [EXACT]

early infantile epileptic encephalopathy 105 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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