maternal uniparental disomy of chromosome 1
ORPHA: 251009
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 1, sourced from HPO and Orphanet clinical annotations.
Smooth philtrumHearing impairmentCataractNystagmusAutismSingle transverse palmar creaseSeizureAtaxiaNeonatal hypotoniaDelayed closure of the anterior fontanelleFailure to thriveGrowth delayPancytopeniaTalipesGastroesophageal refluxVentriculomegalyProgressive spasticityHepatomegalyDownturned corners of mouthRecurrent infectionsAbnormal limb bone morphologyPanhypogammaglobulinemiaShort statureProgressive psychomotor deteriorationAbnormal blistering of the skinUplifted earlobeEpiphyseal stipplingFeeding difficultiesType I diabetes mellitus
Classification & Codes
Orphanet Code
ORPHA:251009maternal uniparental disomy of chromosome 1
| Orphanet | ORPHA:251009 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO