Visualize Submit Comment
Metadata
ID DOID:0080337
Name 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 homozygous mutation in the TFAM gene on chromosome 10q21.
https://ghr.nlm.nih.gov/gene/TFAM#conditions, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/27448789
Xrefs

MIM:617156

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker