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Disease Ontology Term: Andersen-Tawil syndrome

DO ID
DOID:0050434
Description
A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
Synonyms
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS, Andersen syndrome, Long QT syndrome 7, LQT7, Potassium-Sensitive Cardiodysrhythmic Type
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