mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
MTDPS12
related
MTDPS12B
exact
mitochondrial DNA depletion syndrome 12
exact
mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
related
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR
exact
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR
exact
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
exact
mitochondrial DNA depletion syndrome type 12
related
SPBC530.10c