Definition

A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

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Synonyms

isolated mitochondrial respiratory chain complex II deficiency
isolated succinate-coenzyme Q reductase deficiency

Cross References

Parent Terms

mitochondrial metabolism disease

Child Terms

None

Sources of Associations

Associated Genes

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mitochondrial complex II deficiency

mitochondrial complex II deficiency

Associated Genes

Associated Alleles

Associated Models