maternal uniparental disomy of chromosome X
MONDO:0016851Mondo
Findings
No curated finding names maternal uniparental disomy of chromosome X yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
26 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Inverted nipplesHPOHP:0003186
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Predominantly lower limb lymphedemaHPOHP:0003550
- Very frequent (80% to 99% of cases)
- Primary gonadal insufficiencyHPOHP:0008193
- Very frequent (80% to 99% of cases)
- Rocker bottom footHPOHP:0001838
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome X
- Also called
- maternal uniparental disomy of chromosome type XUPD(X)mat