/mitochondrial complex 2 deficiency, nuclear type 3

mitochondrial complex 2 deficiency, nuclear type 3

Rare Disease

MONDO:0030937

Also Known As

MC2DN3SDHD-related Nuclear type mitochondrial complex II deficiencymitochondrial complex 2 deficiency, nuclear type 3mitochondrial complex II deficiency, nuclear type 3

Definition

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.