U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability 34

Syndromic X-linked intellectual disability 34

Synonyms
Intellectual developmental disorder, X-linked syndromic 34; MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRXS34, NMT55, NRB54, P54, P54NRB, PPP1R114, NONO
    Summary: non-POU domain containing octamer binding

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.