maternal uniparental disomy of chromosome 20
ORPHA: 96186
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 20, sourced from HPO and Orphanet clinical annotations.
Feeding difficulties in infancyPostnatal growth retardationTriangular faceHypotoniaGlobal developmental delayIntrauterine growth retardationSmall for gestational ageOligohydramniosShort statureDecreased body weightProminent foreheadClinodactylyReduced circulating growth hormone concentrationMicrognathiaAsymmetric growth
Classification & Codes
Orphanet Code
ORPHA:96186maternal uniparental disomy of chromosome 20
| Orphanet | ORPHA:96186 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO