Ring chromosome 9
Ring chromosome 9
Definition
Ring chromosome 9 syndrome is an 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.
Also known as Chromosome 9 Ring, Ring 9, Ring chromosome type 9 — per MONDO