cardiomyopathy-hypotonia-lactic acidosis syndrome
defect in gene encoding a mitochondrial membrane transporter
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cardiomyopathy-hypotonia-lactic acidosis syndrome
Summary
cardiomyopathy-hypotonia-lactic acidosis syndrome is a developmental defect during embryogenesis[1].
Key Facts
- cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as rare disease[3].
- cardiomyopathy-hypotonia-lactic acidosis syndrome's instance of is recorded as class of disease[4].
- cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of mitochondrial substrate carrier disorder[5].
- cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of mitochondrial disease with hypertrophic cardiomyopathy[6].
- cardiomyopathy-hypotonia-lactic acidosis syndrome is a type of syndrome associated with hypertrophic cardiomyopathy[7].
- cardiomyopathy-hypotonia-lactic acidosis syndrome's genetic association is recorded as SLC25A3[8].
- cardiomyopathy-hypotonia-lactic acidosis syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_91130[9].