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Marshall-Smith syndrome

Summary

The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTF, MALNS, MRSHSS, NF-I/X, NF1-X, NF1A, SOTOS2, NFIX
    Summary: nuclear factor I X

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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