RS713993043 DYNC1H1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2O
Neuronopathy
distal hereditary motor
autosomal dominant
Charcot-Marie-Tooth disease axonal type 2O
Neurodevelopmental delay
DYNC1H1-related neurological disorders
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2O
Neuronopathy
distal hereditary motor
autosomal dominant
Charcot-Marie-Tooth disease axonal type 2O
Other Variants in DYNC1H1