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Up to: Autosomal recessive disease · Mitochondrial complex II deficiency, nuclear type
Mitochondrial complex 2 deficiency, nuclear type 3
A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.
This condition has no sub-types.