OBO ID: DOID:0080131
Term Name: mitochondrial DNA depletion syndrome 13 Search Ontology:
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:
Ontology: Human Disease   (DOID:0080131)
OTHER mitochondrial DNA depletion syndrome 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 615471
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None