Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies (SHRF)

Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies, also known as retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, is related to retinitis pigmentosa and sensorineural hearing loss. An important gene associated with Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies is EXOSC2 (Exosome Component 2). Affiliated tissues include eye and brain, and related phenotypes are short stature and broad thumb