Turner syndrome due to structural X chromosome anomalies
MONDO:0020472Mondo
Findings
No curated finding names Turner syndrome due to structural X chromosome anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
113 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.
- Abnormal forearm bone morphologyHPOHP:0040072
- Very frequent (80% to 99% of cases)
- Abnormality of the ovaryHPOHP:0000137
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Enlarged thoraxHPOHP:0100625
- Very frequent (80% to 99% of cases)
- Female infertilityHPOHP:0008222
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- High urinary gonadotropin levelHPOHP:0003492
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- Increased upper to lower segment ratioHPOHP:0012774
- Very frequent (80% to 99% of cases)
Show the remaining 101
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of