/mitochondrial complex 2 deficiency, nuclear type 4

mitochondrial complex 2 deficiency, nuclear type 4

Rare Disease

MONDO:0030974

Also Known As

MC2DN4SDHB-related Nuclear type mitocondrial complex II deficiencymitochondrial complex 2 deficiency, nuclear type 4mitochondrial complex II deficiency, nuclear type 4

Definition

An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.