has material basis in germline mutation in SLC25A3 autosomal recessive disease lactic acidosis cardiomyopathy-hypotonia-lactic acidosis syndrome https://www.malacards.org/card/cardiomyopathy_hypotonia_lactic_acidosis_syndrome https://www.malacards.org/card/mitochondrial_phosphate_carrier_deficiency MEDGEN:324373 MESH:C563665 Orphanet:91130 OMIM:610773 MONDO:0012557 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized 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. UMLS:C1835845 SCTID:718713000 GARD:0016795 hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome mitochondrial substrate carrier disorder familial hypertrophic cardiomyopathy