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Woodhouse-Sakati syndrome

Definition:

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.

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