RS879253979 DYNC1H1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Charcot-Marie-Tooth disease axonal type 2O
Pes cavus
Hammertoe
Myopathy
Distal lower limb amyotrophy
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Dyneinopathy
DYNC1H1-related disorder
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Pes cavus
Hammertoe
Myopathy
Other Variants in DYNC1H1