loading...| Preferred Name |
Jervell and Lange-Nielsen syndrome |
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| Synonyms |
Long QT interval-deafness syndrome |
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| Definitions |
A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_90647 |
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| alternative_term |
Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome |
|
| definition |
A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 |
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| has_age_of_onset |
Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:220400 MedDRA:10057936 ICD-10:I45.8 ICD-11:BC65.0 UMLS:C0022387 OMIM:612347 MeSH:D029593 |
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| label |
Jervell and Lange-Nielsen syndrome |
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| notation |
ORPHA:90647 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_90647 |
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| prefLabel |
Jervell and Lange-Nielsen syndrome |
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| present_in |
Worldwide AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView | ||
| subClassOf |