Term Name: developmental and epileptic encephalopathy 105
Synonyms: DEE105, early infantile 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.
Ontology: Human Disease [DOID:0070391]   ( DOID:0070391 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy