Andersen-Tawil syndrome
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. [ url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome url:http://en.wikipedia.org/wiki/Long_QT_syndrome ]
Synonyms: ATS, Andersen syndrome , Long QT syndrome 7, Potassium-Sensitive Cardiodysrhythmic Type, LQT7, ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Term info
- MESH:D050030
- UMLS_CUI:C1563715
- ORDO:37553
- SNOMEDCT_US_2016_03_01:422348008
- OMIM:170390
- NCI:C84559
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:0050434


