RS782316919 SURF1
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What This Variant Does
"Associated with Leigh syndrome according to OMIM
Associated Conditions
Mitochondrial complex IV deficiency
nuclear type 1
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Leigh syndrome due to mitochondrial complex IV deficiency
Inborn genetic diseases
Abnormal pyramidal sign
Dysarthria
Cerebellar ataxia
Muscle weakness
See cases
SURF1-related disorder
Mitochondrial complex IV deficiency
nuclear type 1
Leigh syndrome
Other Variants in SURF1