Clinical features
Autosomal recessive loss-of-function variants in POC5 cause a multisystem disorder characterized by retinitis pigmentosa, diabetes mellitus with insulin resistance, lipodystrophy with liver problems, kidney disease, and muscle complaints.
Prevalence
Eleven families with this disorder have been described in the medical literature.
Inheritance
POC5 variants are inherited in an autosomal recessive manner.
POC5