Orofaciodigital syndrome 20

Synonyms: Orofaciodigital syndrome XX

Summary

Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200). [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

RAB34
1 test
Also known as: NARR, OFD20, RAB39, RAH, RAB34
Summary: RAB34, member RAS oncogene family

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MedlinePlus

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