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Andersen disease

Friday 14 November 2003

Disease associating dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis.

Etiology

- mutations in the KCNJ2 gene

See also

- GSD type 4 (Ex-Andersen disease)