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GTR Home > Conditions/Phenotypes > 8q24.3 microdeletion syndrome

8q24.3 microdeletion syndrome

Synonyms
CHROMOSOME 8q24.3 DELETION SYNDROME; Verheij syndrome

Summary

Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FIR, RoBPI, SIAHBP1, VRJS, PUF60
    Summary: poly(U) binding splicing factor 60

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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