/retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

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

Rare Disease

MONDO:0044634

Also Known As

retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndromeshort stature, hearing loss, retinitis pigmentosa, and distinctive facies

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Associated Genes

EXOSC2 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases