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GTR Home > Conditions/Phenotypes > Mitochondrial complex 2 deficiency, nuclear type 4

Mitochondrial complex 2 deficiency, nuclear type 4

Synonyms
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4

Summary

Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP, SDHB
    Summary: succinate dehydrogenase complex iron sulfur subunit B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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