RS724160020 AIFM1
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What This Variant Does
"CLNSIG=255
Associated Conditions
Deafness
X-linked 5
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X
Ear malformation
Severe X-linked mitochondrial encephalomyopathy
AIFM1-related disorder
Deafness
X-linked 5
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X
Ear malformation
Severe X-linked mitochondrial encephalomyopathy
AIFM1-related disorder
Other Variants in AIFM1