We identified a novel homozygous single nucleotide deletion, which results in frameshift [p.val649fs] and introduction of a premature stop codon in ALMS1, suggesting the genetic diagnosis of Alstrom syndrome (AS) [OMIM: 203800], an extremely rare, autosomal recessive, Mendelian disorder with a prevalence of less than 1 per million in the general population [14–22]. The gene discussed is ALMS1; the disease is Alstrom syndrome.