isolated congenital growth hormone deficiency
MONDO:0000050Mondo
Findings
No curated finding names isolated congenital growth hormone deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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 hypopituitarismHPOHP:0000830
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abdominal obesityHPOHP:0012743
- Frequent (30% to 79% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Frequent (30% to 79% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Frequent (30% to 79% of cases)
- Decreased muscle massHPOHP:0003199
- Frequent (30% to 79% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Doll-like faciesHPOHP:0000295
- Frequent (30% to 79% of cases)
Show the remaining 7
- Neonatal hypoglycemiaHPOHP:0001998
- Frequent (30% to 79% of cases)
- Premature skin wrinklingHPOHP:0100678
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
- Sparse hairHPOHP:0008070
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Occasional (5% to 29% of cases)
Where it sits
- Narrower terms (7)
- isolated growth hormone deficiency type IA
- isolated growth hormone deficiency type IB
- isolated growth hormone deficiency type II
- isolated growth hormone deficiency type III
- isolated growth hormone deficiency, type 4
- isolated growth hormone deficiency, type 5
- short stature due to growth hormone qualitative anomaly
Other names
5 names
Resolves to: isolated congenital growth hormone deficiency
- Also called
- congenital IGHDcongenital isolated GH deficiencycongenital isolated growth hormone deficiencyICGHDisolated growth hormone deficiency