NAA10-related syndrome
Findings
No curated finding names NAA10-related syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100124), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Abnormal facial shapeMondoHP:0001999
- Abnormality of the cardiovascular systemMondoHP:0001626
- Abnormality of the skeletal systemMondoHP:0000924
- HypotoniaMondoHP:0001252
- Intellectual disabilityMondoHP:0001249
- Neurodevelopmental delayMondoHP:0012758
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NAA10HGNC:18704
- Definitive · ClinGen · X-linked · 2020
- Definitive · Broad Center for Mendelian Genomics · X-linked · 2024
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: NAA10-related syndrome
- Also called
- NAA10 X-linked syndromic intellectual disabilityX-linked syndromic intellectual disability caused by mutation in NAA10