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

Official abbreviation -
Name cardiomyopathy, hypertrophic, early-onset fatal
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 8
Associated with 1 gene COX15
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00100426 - - - M no Netherlands - - 0 - - cardiomyopathy, hypertrophic, early-onset fatal - AARS2 AARS2 2 1 Rick Kamps
00155748 - - - - - - - - 0 - - cardiomyopathy, hypertrophic, early-onset fatal - - MYBPC3 1 1 Atsuko Imai-Okazaki
00302916 155445 - patient deceased sudden death, post-mortem analysis M ? Germany - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 ? ? (unknown) - - 0 - - 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
Legend   How to query  

  Powered by LOVD v.3.0 Build 25c
LOVD software ©2004-2021 Leiden University Medical Center 		There are currently no updates.