paternal uniparental disomy of chromosome 6
ORPHA: 96191
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with paternal uniparental disomy of chromosome 6, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityCryptorchidismLabial hypertrophyMacroglossiaGingival overgrowthHigh palateSmall anterior fontanelleProminent occiputAbnormality of the faceRetrognathiaMicrognathiaAbnormal earlobe morphologyProminent noseShallow orbitsPrecocious pubertyNeonatal insulin-dependent diabetes mellitusIntrauterine growth retardationUmbilical herniaOligohydramniosVentricular septal defectCardiomegalyHypoplastic fingernailDehydrationGeneralized myoclonic seizureHepatomegalyNeonatal respiratory distressPostnatal growth retardationPatent ductus arteriosusAbdominal wall defectAbnormal placenta morphology
Classification & Codes
Orphanet Code
ORPHA:96191paternal uniparental disomy of chromosome 6
| Orphanet | ORPHA:96191 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO