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mitochondrial DNA depletion syndrome 12b

Definition: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
Super Class: autosomal recessive disease mitochondrial DNA depletion syndrome

Disease Ontology

DOID:0080335

Mondo Disease Ontology

NCI Thesaurus

ORDO

OMIM

GARD

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
293	SLC25A6	solute carrier family 25 member 6	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
11739	Slc25a4	solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4	Alliance of Genome Resources
11740	Slc25a5	solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
85333	Slc25a4	solute carrier family 25 member 4	Alliance of Genome Resources

Displaying **all 10** entries
HPO ID	HPO Term
HP:0000518	Cataract
HP:0001639	Hypertrophic cardiomyopathy
HP:0000501	Glaucoma
HP:0003198	Myopathy
HP:0000639	Nystagmus
HP:0000486	Strabismus
HP:0001131	Corneal dystrophy
HP:0000512	Abnormal electroretinogram
HP:0003128	Lactic acidosis
HP:0000545	Myopia