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Mitochondrial complex 2 deficiency, nuclear type 4
rareAn 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.
- Identifiers
- MONDO:0030974 OMIM:619224
- 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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