Clinical features
Pathogenic homozygous or compound heterozygous variants in ARL6 may lead to either syndromic (BBS3) or non-syndromic (RP55) retinitis pigmentosa. Among the two ARL6-associated conditions, retinitis pigmentosa was the universal finding. Additional common features of BBS3 include obesity, polydactyly, renal abnormalities, hypogenitalism, cognitive impairment as well as increased risk for hypertension, diabetes and heart defects.
Prevalence
The prevalence of ARL6-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ARL6-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
ARL6