Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial DNA depletion syndrome 15
DOID:0080337
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mitochondrial DNA depletion syndrome 15

Definition
A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21.
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