Preferred Label : Cardiomyopathy - hypotonia - lactic acidosis;
ICD-11 definition : This syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia
and the presence of lactic acidosis at birth. It has been described in two sisters
(both of whom died within the first year of life) from a nonconsanguineous Turkish
family. The syndrome is caused by a homozygous point mutation in the exon 3A of the
SLC25A3 gene encoding a mitochondrial membrane transporter.;
Origin ID : 1188780559;
CISMeF manual mappings
- Currated CISMeF NLP mapping
This syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia
and the presence of lactic acidosis at birth. It has been described in two sisters
(both of whom died within the first year of life) from a nonconsanguineous Turkish
family. The syndrome is caused by a homozygous point mutation in the exon 3A of the
SLC25A3 gene encoding a mitochondrial membrane transporter.
