Paternal uniparental disomy of chromosome 6 syndrome
ORPHA:96191· ICD-10 Q99.8
Definition
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
- Age of onset
- Antenatal, Neonatal