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Human Disease

Andersen-Tawil syndrome

Term ID
DOID:0050434
Synonyms
  • ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
  • Andersen syndrome
  • Long QT syndrome 7
  • LQT7
  • Potassium-Sensitive Cardiodysrhythmic Type
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0050434 )
Relationships
is a type of
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Genes Involved
Zebrafish Models