Details of Disease

General Information of Disease (ID: DISVSZYQ)

• Disease Name: NAA10-related syndrome
• Synonyms: X-linked syndromic intellectual disability caused by mutation in NAA10; NAA10 X-linked syndromic intellectual disability; 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.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISVSZYQ: NAA10-related syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAA10	OTYB9R6I	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.