RS587780564 DYNC1H1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Hereditary motor and sensory neuropathy
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Hereditary motor and sensory neuropathy
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
autosomal dominant 13
Other Variants in DYNC1H1