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.