BACKGROUND Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic 
condition that was first described in 1983. Since its original description, 
approximately 50 cases have been reported with various clinical signs and 
symptoms. Characteristics include progressive neurologic deterioration with 
extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism 
starting in early adolescence. Clinical presentation is variable, and a subset 
of patients may have additional features, such as premature aging, alopecia, 
distinctive facial features, cognitive impairment, or deafness. CASE REPORT We 
illustrate the phenotypic variability of 5 patients with WSS due to the 
previously reported homozygous single nucleotide deletion c.436delC in the 
DCAF17 gene, identified in 2008. Despite identical genetic alteration, our 5 
patients had various clinical features among them and compared with previously 
reported cases with the same pathogenic mutation. CONCLUSIONS The phenotypic 
variability of WSS due to c.436delC founder mutation may have a wider range than 
previously recognized.