Term Name: mitochondrial DNA depletion syndrome 18
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.
Ontology: Human Disease [DOID:0070449]   ( DOID:0070449 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome