maternal uniparental disomy of chromosome 6
ORPHA: 96181
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 6, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaHydrocele testisCleft palateCleft upper lipTriangular faceRod-cone dystrophyAbnormal electroretinogramProgressive visual lossEczematoid dermatitisIntellectual disabilityIntrauterine growth retardationThrombocytopeniaVentriculomegalyImmunodeficiencySlender long boneDelayed gross motor developmentAccelerated bone age after pubertyCongenital adrenal hyperplasiaClitoral hypertrophyIncreased serum testosterone level
Classification & Codes
Orphanet Code
ORPHA:96181maternal uniparental disomy of chromosome 6
| Orphanet | ORPHA:96181 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO