Mitochondrial complex 2 deficiency, nuclear type 3
Mitochondrial complex 2 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.
Also known as MC2DN3, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex II deficiency, nuclear type 3, SDHD-related Nuclear type mitochondrial complex II deficiency — per MONDO