mitochondrial DNA depletion syndrome 15

Term ID

DOID:0080337

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. (4)

References

• OMIM:617156

Ontology

Human Disease   ( DOID:0080337 )