SCARB2 and Cognitive impairment: In this study, we describe a multiple affected (n = 5) consanguineous Turkish family with a homozygous truncating pathogenic variant (c.134delA; p.N45MfsX88), which has been recently reported in an independent Turkish family [9] (family 2) in the SCARB2 gene presenting with similar clinical presentation with slightly different AO of the disease and without dysarthria and cognitive impairment (Table 1).