developmental and epileptic encephalopathy 105 with hypopituitarism
Findings
No curated finding names developmental and epileptic encephalopathy 105 with hypopituitarism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0031028), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Pituitary hypothyroidismHPOHP:0008245
- 7 of 7 reported patients
- SynophrysHPOHP:0000664
- 6 of 6 reported patients
- Anterior pituitary hypoplasiaHPOHP:0010627
- 6 of 7 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HID1HGNC:15736
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 105 with hypopituitarism
- Also called
- DEE105