maternal uniparental disomy of chromosome 1
MONDO:0016651Mondo
Findings
No curated finding names maternal uniparental disomy of chromosome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternal uniparental disomy of chromosome 1 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:0016651), read 2026-09-29. CC BY 4.0.
Features
29 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 blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Abnormal limb bone morphologyHPOHP:0002813
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Delayed closure of the anterior fontanelleHPOHP:0001476
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Epiphyseal stipplingHPOHP:0010655
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
Show the remaining 17
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PancytopeniaHPOHP:0001876
- Frequent (30% to 79% of cases)
- PanhypogammaglobulinemiaHPOHP:0003139
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 1
- Also called
- maternal uniparental disomy of chromosome type 1UPD(1)mat