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Andersen Tawil syndrome

Synonyms
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Syndrome; LONG QT SYNDROME 7; PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described. [from GeneReviews]

Available tests

98 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (98 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, KCNJ2
    Summary: potassium inwardly rectifying channel subfamily J member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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