paternal uniparental disomy of chromosome 5
ORPHA: 96190
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 5, sourced from HPO and Orphanet clinical annotations.
Renal duplicationAbnormally large globeGlobal developmental delayGeneralized hypotoniaPolyhydramniosSecundum atrial septal defectMultiple epiphyseal dysplasiaKyphoscoliosisRhizomelic arm shorteningShort lower limbsAbnormal fibular epiphysis morphologyPosterior plagiocephalySchizophrenia
Classification & Codes
Orphanet Code
ORPHA:96190paternal uniparental disomy of chromosome 5
| Orphanet | ORPHA:96190 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO