Disease association ontology term - MONDO:0100124 - NAA10-related syndrome
Term summary
- ID
- MONDO:0100124
- Name
- NAA10-related syndrome
- Ontology or CV name
- Disease association
- 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.
