mitochondrial DNA depletion syndrome 12a

Term ID

DOID:0080130

Synonyms

Definition

A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. https://www.ncbi.nlm.nih.gov/pubmed/27693233

References

• MIM:617184
• NCI:C129977

Ontology

Human Disease   ( DOID:0080130 )