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. [ http://www.ncbi.nlm.nih.gov/pubmed/23871722 https://clinicalgenome.org/affiliation/40006/ http://www.ncbi.nlm.nih.gov/pubmed/28967461 http://www.ncbi.nlm.nih.gov/pubmed/29558889 http://www.ncbi.nlm.nih.gov/pubmed/24431331 http://www.ncbi.nlm.nih.gov/pubmed/29748569 http://www.ncbi.nlm.nih.gov/pubmed/31127942 http://www.ncbi.nlm.nih.gov/pubmed/31088393 http://www.ncbi.nlm.nih.gov/pubmed/25099252 http://www.ncbi.nlm.nih.gov/pubmed/26522270 http://www.ncbi.nlm.nih.gov/pubmed/31174490 http://www.ncbi.nlm.nih.gov/pubmed/27094817 ]
Synonyms: X-linked syndromic intellectual disability caused by mutation in NAA10 NAA10-related syndrome NAA10 X-linked syndromic intellectual disability
Term information
disease_grouping, rare, nord_rare, clingen