Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (nystagmus, pathologic; retinitis pigmentosa; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 diabetes mellitus; HYPERINSULINEMIA; acanthosis nigricans; hypothyroidism; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.


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