U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 1

Intellectual disability, X-linked 1

Synonyms
Atkin Flaitz Patil Smith syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; MENTAL RETARDATION, X-LINKED 18; MENTAL RETARDATION, X-LINKED 78; Mental retardation, X-linked, nonspecific

Summary

An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. [from NCI]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1, IQSEC2
    Summary: IQ motif and Sec7 domain ArfGEF 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.