loading...| Preferred Name |
heart-hand syndrome, Slovenian type |
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| Synonyms |
atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
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| Definitions |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012417 |
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| has_exact_synonym |
atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
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| label |
heart-hand syndrome, Slovenian type |
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| prefixIRI |
MONDO:0012417 |
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| prefLabel |
heart-hand syndrome, Slovenian type |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type |
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| textual definition |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
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| subClassOf |