Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_disease
|
| gptkbp:affects |
gptkb:skeletal_muscle
heart facial structure |
| gptkbp:alsoKnownAs |
gptkb:Long_QT_syndrome_type_7
|
| gptkbp:category |
gptkb:muscular_dystrophy
gptkb:cardiac_disorder channelopathy |
| gptkbp:characterizedBy |
cardiac arrhythmias
distinctive facial and skeletal features periodic paralysis |
| gptkbp:diagnosedBy |
genetic testing
electrocardiogram |
| gptkbp:firstDescribed |
gptkb:Ellen_Andersen
gptkb:Rabi_Tawil |
| gptkbp:frequency |
very rare
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNJ2_gene
|
| gptkbp:OMIM |
170390
|
| gptkbp:symptom |
muscle weakness
clinodactyly hypertelorism low-set ears prolonged QT interval ventricular arrhythmias |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta-blockers antiarrhythmic drugs |
| gptkbp:bfsParent |
gptkb:HGNC:6407
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Andersen-Tawil syndrome
|