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mitochondrial DNA depletion syndrome 13
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080131
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
