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GTR Home > Conditions/Phenotypes > Orofaciodigital syndrome 18

Orofaciodigital syndrome 18

Synonyms
OFDS XVIII; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII; Orofaciodigital syndrome XVIII

Summary

Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ESRRBL1, HIPPI, MHS4R2, OFD18, IFT57
    Summary: intraflagellar transport 57

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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