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Human Disease

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
Ontology
Human Disease   ( DOID:0080130 )
Relationships
is a type of
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Genes Involved
Zebrafish Models