Disease-gene associations mined from literature

Human genes for Andersen-Tawil syndrome

Andersen-Tawil syndrome [DOID:0050434]

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-Tawil syndrome,  AndersenTawil syndrome,  Andersen-Tawil disease,  Andersen-Tawil disorder,  Andersen-Tawil syndromes ...

Linkouts:  OMIM