paternal uniparental disomy of chromosome 6
MONDO:0019921Mondo
Findings
No curated finding names paternal uniparental disomy of chromosome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Definition from the Mondo Disease Ontology (MONDO:0019921), read 2026-09-29. CC BY 4.0.
Features
30 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 earlobe morphologyHPOHP:0000363
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- CardiomegalyHPOHP:0001640
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Very frequent (80% to 99% of cases)
- Gingival overgrowthHPOHP:0000212
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- Hypoplastic fingernailHPOHP:0001804
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Labial hypertrophyHPOHP:0000065
- Very frequent (80% to 99% of cases)
Show the remaining 18
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- Very frequent (80% to 99% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Very frequent (80% to 99% of cases)
- OligohydramniosHPOHP:0001562
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
Where it sits
Other names
2 names
Resolves to: paternal uniparental disomy of chromosome 6
- Also called
- paternal uniparental disomy of chromosome type 6UPD(6)pat