maternal uniparental disomy of chromosome 4
ORPHA: 96180
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 4, sourced from HPO and Orphanet clinical annotations.
Rod-cone dystrophyPigmentary retinopathyNyctalopiaAbnormality of the nervous systemDepressionDelayed speech and language developmentVisual field defectIntellectual disabilityAtaxiaDysmetriaAbnormal erythrocyte morphologyAcanthocytosisDiarrheaSpastic gaitImpaired vibratory sensationHyporeflexia of lower limbsFat malabsorptionHypocholesterolemiaElevated circulating creatine kinase concentrationDecreased LDL cholesterol concentrationCalf muscle pseudohypertrophyNeck flexor weaknessShort statureDecreased body weightMalnutritionReduced circulating vitamin A concentrationLimb-girdle muscular dystrophyAbetalipoproteinemiaPostnatal growth retardationImpaired proprioceptionChaddock reflexDecreased circulating vitamin K concentrationHypofibrinogenemiaDecreased circulating vitamin E concentrationNeurogenic bladderSensorineural hearing impairmentOptic atrophyDiabetes insipidusType I diabetes mellitus
Classification & Codes
Orphanet Code
ORPHA:96180maternal uniparental disomy of chromosome 4
| Orphanet | ORPHA:96180 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO