RS768119034 CLCN1
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Associated Conditions
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Congenital myotonia
autosomal recessive form
autosomal dominant form
Batten-Turner congenital myopathy
Smith-Lemli-Opitz syndrome
Tip-toe gait
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Congenital myotonia
autosomal recessive form
autosomal dominant form
Batten-Turner congenital myopathy
Smith-Lemli-Opitz syndrome
Tip-toe gait
Other Variants in CLCN1