ZFIN Human Disease: mitochondrial DNA depletion syndrome 13

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:	GARD:13298 OMIM:615471 ORDO:369897
Ontology:	Human Disease ( DOID:0080131 )

Relationships

is a type of:	autosomal recessive disease mitochondrial DNA depletion syndrome autosomal recessive disease mitochondrial DNA depletion syndrome Show first 5 Terms

OTHER mitochondrial DNA depletion syndrome 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FBXL4	fbxl4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471

ZEBRAFISH MODELS

Fish	Conditions	Citations
fbxl4^{sa12470/sa12470}	standard conditions	Lavorato et al., 2022

PHENOTYPE No data available

CITATIONS (1)