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GTR Home > Conditions/Phenotypes > Stickler syndrome, IIa 6

Stickler syndrome, IIa 6

Synonyms
Stickler syndrome, type 6; Stickler syndrome, type VI

Summary

Stickler syndrome type VI (STL6) is characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies (Nixon et al., 2019; Rad et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Stickler syndrome, see STL1 (108300). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DJ885L7.4.1, EDM3, IDD, MED, STL6, COL9A3
    Summary: collagen type IX alpha 3 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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