paternal uniparental disomy of chromosome X
ORPHA: 261524
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 X, sourced from HPO and Orphanet clinical annotations.
MicropenisShort neckWide intermamillary distanceInfertilityShield chestShort metacarpalIntellectual disabilityHypotoniaMild intellectual disabilityGlobal developmental delayShort statureLow posterior hairlineAbnormality of chromosome segregationCubitus valgusHypoplastic areolaDecreased testicular sizeModerate global developmental delayPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:261524paternal uniparental disomy of chromosome X
| Orphanet | ORPHA:261524 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO