Term Name: mitochondrial DNA depletion syndrome 15
Synonyms:
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.
Ontology: Human Disease [DOID:0080337]   ( DOID:0080337 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome