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.

Also known as: MC2DN3, SDHD-related Nuclear type mitochondrial complex II deficiency, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex II deficiency, nuclear type 3

18 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex 2 deficiency, nuclear type 3 itself.