NAA10-related syndrome

Definition

Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.

Also known as NAA10 X-linked syndromic intellectual disability, NAA10-related syndrome, X-linked syndromic intellectual disability caused by mutation in NAA10 — per MONDO