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/26522270 http://www.ncbi.nlm.nih.gov/pubmed/31088393 http://www.ncbi.nlm.nih.gov/pubmed/31174490 http://www.ncbi.nlm.nih.gov/pubmed/31127942 http://www.ncbi.nlm.nih.gov/pubmed/23871722 http://www.ncbi.nlm.nih.gov/pubmed/25099252 https://clinicalgenome.org/affiliation/40006/ http://www.ncbi.nlm.nih.gov/pubmed/29748569 http://www.ncbi.nlm.nih.gov/pubmed/28967461 http://www.ncbi.nlm.nih.gov/pubmed/24431331 http://www.ncbi.nlm.nih.gov/pubmed/27094817 http://www.ncbi.nlm.nih.gov/pubmed/29558889 ]
Synonyms: X-linked syndromic intellectual disability caused by mutation in NAA10 NAA10-related syndrome NAA10 X-linked syndromic intellectual disability
Term information
matrix_llm__is_cancer_other, gard_rare, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease
Term relations
- X-linked syndromic intellectual disability and has material basis in germline mutation in some NAA10
- X-linked syndromic intellectual disability
- disease has feature some Intellectual disability
- disease has feature some Abnormality of the cardiovascular system
- disease has feature some Neurodevelopmental delay
- disease has feature some autism spectrum disorder
- disease has feature some Abnormality of the skeletal system
- disease has feature some Abnormal facial shape
- disease has feature some Hypotonia
- has material basis in germline mutation in some NAA10