mitochondrial DNA depletion syndrome 13

Term ID

DOID:0080131

Synonyms

• FBXL4 deficiency
• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• mitochondrial DNA depletion syndrome 13, encephalomyopathic type

Definition

A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (5)

References

• GARD:13298
• OMIM:615471
• ORDO:369897

Ontology

Human Disease   ( DOID:0080131 )