isolated growth hormone deficiency, type 4
MONDO:0032567Mondo
Findings
No curated finding names isolated growth hormone deficiency, type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Severe short statureHPOHP:0003510
- 6 of 6 reported patients
- Anterior pituitary hypoplasiaHPOHP:0010627
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Delayed skeletal maturationHPOHP:0002750
- Impaired growth-hormone response to insulin stimulation testHPOHP:0031079
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.
- GHRHRHGNC:4266
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: isolated growth hormone deficiency, type 4
- Also called
- growth hormone deficiency, isolated, type IV