isolated growth hormone deficiency type III
MONDO:0010615Mondo
Findings
No curated finding names isolated growth hormone deficiency type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Delayed pubertyHPOHP:0000823
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Absent circulating B cellsHPOHP:0030252
- 3 of 4 reported patients
- PanhypogammaglobulinemiaHPOHP:0003139
- 3 of 4 reported patients
- ConjunctivitisHPOHP:0000509
- 2 of 4 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 2 of 4 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 4 reported patients
- Abnormal total T cell numberHPOHP:0011839
- 0 of 4 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.
- BTKHGNC:1133
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Disputed Evidence · ClinGen · X-linked · 2020
Where it sits
Other names
7 names
Resolves to: isolated growth hormone deficiency type III
- Also called
- congenital IGHD type IIIcongenital isolated GH deficiency type IIIcongenital isolated growth hormone deficiency type IIIFleisher syndromeisolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessiveX-linked IGHDX-linked isolated growth hormone deficiency