Батькова уніпарентна дисомія хромосоми 6
ORPHA:96191· ICD-10 Q99.8· Paternal uniparental disomy of chromosome 6 syndrome
Визначення(English summary)
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
- Вік початку
- Antenatal, Neonatal