RS55960271 CLCN1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Congenital myotonia
autosomal dominant form
autosomal recessive form
Batten-Turner congenital myopathy
Myopathy
EMG: myopathic abnormalities
Tip-toe gait
Cerebral palsy
Abnormality of the musculature
CLCN1-related disorder
Myotonia levior
Congenital myotonia
autosomal dominant form
autosomal recessive form
Batten-Turner congenital myopathy
Other Variants in CLCN1