isolated growth hormone deficiency, type 5
MONDO:0032569Mondo
Findings
No curated finding names isolated growth hormone deficiency, type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 3 of 3 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Postnatal growth retardationHPOHP:0008897
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
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.
- RNPC3HGNC:18666
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: isolated growth hormone deficiency, type 5
- Also called
- pituitary hormone deficiency, combined or isolated, 7