maternal uniparental disomy of chromosome X
ORPHA: 261519
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 maternal uniparental disomy of chromosome X, sourced from HPO and Orphanet clinical annotations.
AzoospermiaAmbiguous genitaliaThin vermilion borderMicrocephalyShort neckShield chestHypopigmentation of the skinIntellectual disabilitySeizureAgenesis of corpus callosumGlobal developmental delayFlexion contractureHepatic failureShort statureCongestive heart failureRocker bottom footLow posterior hairlineScoliosisAbnormality of chromosome segregationCubitus valgusInverted nipplesGonadal tissue inappropriate for external genitalia or chromosomal sexPredominantly lower limb lymphedemaDepressed nasal bridgePrimary gonadal insufficiencyCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:261519maternal uniparental disomy of chromosome X
| Orphanet | ORPHA:261519 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO