Version: 8.0.0
Date: Tue Jan 28 2025
orofaciodigital syndrome XX
DOID:0060962
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

orofaciodigital syndrome XX

Definition
An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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