chromosome Xp21 deletion syndrome
MONDO:0010399Mondo
Findings
No curated finding names chromosome Xp21 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
32 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.
- Adrenal insufficiencyHPOHP:0000846
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- KetoacidosisHPOHP:0001993
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Primary adrenal insufficiencyHPOHP:0008207
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Frequent (30% to 79% of cases)
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- Decreased muscle massHPOHP:0003199
- Frequent (30% to 79% of cases)
Where it sits
Other names
5 names
Resolves to: chromosome Xp21 deletion syndrome
- Also called
- complex glycerol kinase deficiencyDel(X)(p21)Glycerol kinase deficiency-contiguous gene syndromeXp21 contiguous gene deletion syndromeXp21 microdeletion syndrome