Disease #00946 (cardiomyopathy, hypertrophic, early-onset fatal)

Official abbreviation -
Name cardiomyopathy, hypertrophic, early-onset fatal
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 9
Associated with 1 gene COX15
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2015-12-08 23:50:05 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00100426 - - - M no Netherlands - - - - - cardiomyopathy, hypertrophic, early-onset fatal - AARS2 AARS2 2 1 Rick Kamps
00155748 - - - - - - - - - - - cardiomyopathy, hypertrophic, early-onset fatal - - MYBPC3 1 1 Atsuko Imai-Okazaki
00302916 155445 - patient deceased sudden death, post-mortem analysis M ? Germany - - - - - cardiomyopathy, hypertrophic, early-onset fatal sudden cardiac death, sudden death, arrhytmia, patient deceased sudden death, post-mortem analysis SCN5A SCN5A 1 1 Andreas Laner
00302917 155452 - patient deceased sudden death, post-mortem analysis ? ? Germany - - - - - cardiomyopathy, hypertrophic, early-onset fatal patient deceased sudden death, post-mortem analysis, Sudden cardiac death, Sudden death, Arrhythmia; patient not affected, variant reported as an actionable incidental finding RYR2 RYR2 1 1 Andreas Laner
00302918 155458 - patient deceased sudden death, post-mortem analysis ? ? Germany - - - - - cardiomyopathy, hypertrophic, early-onset fatal Sudden death, Sudden cardiac death, patient deceased sudden death, post-mortem analysis UPB1 UPB1 1 1 Andreas Laner
00302919 155461 - patient deceased sudden death, post-mortem analysis ? ? Germany - - - - - cardiomyopathy, hypertrophic, early-onset fatal Sudden cardiac death, Sudden death, patient deceased sudden death, post-mortem analysis DSG2 DSG2 1 1 Andreas Laner
00305347 138430 - - M ? - - - - - - cardiomyopathy, hypertrophic, early-onset fatal Proxysmal effort-induced dyskinesia (segmental in the area of the abdominal muscles), progressive movement disorder for about 8 months, semiologically more myocloniform than dyston - variant reported as secondary finding DSP DSP 1 1 Andreas Laner
00466332 patient - - M - China - - - - - cardiomyopathy, hypertrophic, early-onset fatal - TBX1 TBX1 1 1 Jilin Hu
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