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GTR Home > Conditions/Phenotypes > Short stature, oligodontia, dysmorphic facies, and motor delay

Short stature, oligodontia, dysmorphic facies, and motor delay

Summary

SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: RPC32HOM, SOFM, flj32422, POLR3GL
    Summary: RNA polymerase III subunit GL

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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