maternal uniparental disomy of chromosome 9
ORPHA: 96183
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 9, sourced from HPO and Orphanet clinical annotations.
Long faceFacial asymmetryMicrognathiaLow-set earsShort neckMyopiaGlobal developmental delayFailure to thriveIntrauterine growth retardationDecreased fetal movementHyperconvex nailIncomprehensible speechKyphoscoliosisPatellar dislocationElbow ankylosisHamstring contracturesAbnormal vertebral morphologyFeeding difficultiesOsteochondrosisCongenital hypothyroidismRetinal dysplasia
Classification & Codes
Orphanet Code
ORPHA:96183maternal uniparental disomy of chromosome 9
| Orphanet | ORPHA:96183 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO