OBO ID: DOID:0080337
Term Name: mitochondrial DNA depletion syndrome 15 Search Ontology:
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:
Ontology: Human Disease   (DOID:0080337)
OTHER mitochondrial DNA depletion syndrome 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TFAM ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 617156
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None