RS1057518083 DYNC1H1

Health Risk Chr 14:101986552

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What This Variant Does

"CLNSIG=5

Associated Conditions

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Charcot-Marie-Tooth disease axonal type 2O

Intellectual disability

autosomal dominant 13

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Charcot-Marie-Tooth disease axonal type 2O

Intellectual disability

autosomal dominant 13

Other Variants in DYNC1H1