maternal uniparental disomy of chromosome 9
MONDO:0019914Mondo
Findings
No curated finding names maternal uniparental disomy of chromosome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Definition from the Mondo Disease Ontology (MONDO:0019914), read 2026-09-29. CC BY 4.0.
Features
21 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 vertebral morphologyHPOHP:0003468
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- Elbow ankylosisHPOHP:0003070
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hamstring contracturesHPOHP:0003089
- Very frequent (80% to 99% of cases)
- Hyperconvex nailHPOHP:0001795
- Very frequent (80% to 99% of cases)
- Incomprehensible speechHPOHP:0002546
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Long faceHPOHP:0000276
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- OsteochondrosisHPOHP:0040188
- Very frequent (80% to 99% of cases)
- Patellar dislocationHPOHP:0002999
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 9
- Also called
- maternal uniparental disomy of chromosome type 9UPD(9)mat