FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term mitochondrial DNA depletion syndrome 13 ID (Ontology) DOID:0080131 (Human Disease)
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.
Also Known As "FBXL4 deficiency" ; "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" ; "mitochondrial DNA depletion syndrome 13, encephalomyopathic type"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 mitochondrial DNA depletion syndrome 13       2
 for disease ribbon | mitochondrial DNA depletion syndrome 13       2
 model of | mitochondrial DNA depletion syndrome 13       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 13  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "FBXL4 deficiency" EXACT
    "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" EXACT
    "mitochondrial DNA depletion syndrome 13, encephalomyopathic type" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:13298
MIM:615471
ORDO:369897