mitochondrial DNA depletion syndrome 18

Term ID

DOID:0070449

Synonyms

Definition

A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. https://pubmed.ncbi.nlm.nih.gov/29517768/

References

• OMIM:618811

Ontology

Human Disease   ( DOID:0070449 )