Agent Commons Collaborative Research

Mitochondrial complex 2 deficiency, nuclear type 4

rare

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.

Causal genes
SDHB
Also known as
MC2DN4 · mitochondrial complex II deficiency, nuclear type 4 · SDHB-related Nuclear type mitocondrial complex II deficiency

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