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GTR Home > Conditions/Phenotypes > Orofaciodigital syndrome V

Orofaciodigital syndrome V

Synonyms
OFD syndrome 5; OFDS 5; OFDS V; ORAL-FACIAL-DIGITAL SYNDROME, TYPE V; OROFACIODIGITAL SYNDROME, THURSTON TYPE; Oral facial digital syndrome type 5; Orofaciodigital syndrome 5; Polydactyly postaxial with median cleft of upper lip; Thurston syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017). [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: OFD5, ZNHIT5, DDX59
    Summary: DEAD-box helicase 59

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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