OrphanDrug
OrphanDrug
Pharma Knowledge Base

maternal uniparental disomy of chromosome 21

ORPHA: 96187

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 21, sourced from HPO and Orphanet clinical annotations.

Reduced muscle phosphoglycerate mutase activityMyoglobinuriaElevated circulating creatine kinase concentrationMyalgiaExercise intoleranceExercise-induced muscle crampsMuscle fiber tubular inclusionsMuscle weaknessAcute kidney injuryAcute rhabdomyolysis

Classification & Codes

Orphanet Code

ORPHA:96187
maternal uniparental disomy of chromosome 21
OrphanetORPHA:96187
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO