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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Synonyms
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016). [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: RRP4, Rrp4p, SHRF, hRrp4p, p7, EXOSC2
    Summary: exosome component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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