Condition: Myopathic facies


rs779027563 in CNTNAP1 gene and Myopathic facies PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs752298579 in TANGO2 gene and Myopathic facies PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.