Rhyns Syndrome (RHYNS)

Rhyns Syndrome, also known as retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome, is related to posterior column ataxia with retinitis pigmentosa and osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome. An important gene associated with Rhyns Syndrome is TMEM67 (Transmembrane Protein 67). Affiliated tissues include eye and cortex, and related phenotypes are ptosis and abnormality of the skeletal system