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OMIM

Gene

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GENATLAS PHENOTYPE

last update : 15/12/2010

Symbol	SDHAD
Location	5p15.33
Name	succinate CoQ reductase deficiency
Corresponding gene	SDHA
Other symbol(s)	SDHF
Main clinical features	lactate acidosis, Leigh syndrome presenting as a leukodystrophy, progressive encephalomyopathy with dementia, myoclonic seizures, and short stature; at muscle biopsy, mitochondrial aggregates and excessive lipid droplets in muscle fibers
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	succinate dehydrogenase, flavoprotein component (SDHA)

Remark(s)

Genotype/Phenotype correlations

mutation G555E reported in a lethal-infantile presentation of complex II deficiency and also in mild phenotype