Ring chromosome 9 syndrome
ORPHA:96173· ICD-10 Q93.2
Definition
A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal