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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 99, syndromic, female-restricted

Intellectual disability, X-linked 99, syndromic, female-restricted

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED

Summary

Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFFRX, FAF, FAF-X, FAM, MRX99, MRXS99F, XLID99, hFAM, USP9X
    Summary: ubiquitin specific peptidase 9 X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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