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GTR Home > Conditions/Phenotypes > RHYNS syndrome

RHYNS syndrome

Synonyms
Retinitis pigmentosa syndrome; Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, TMEM67
    Summary: transmembrane protein 67

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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