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Ellis Van Creveld syndrome
Gene: EVC2_MLPA
Duchenne/Becker muscular dystrophy
Gene: DMD
Duchenne/Becker muscular dystrophy
Gene: DMD_MLPA
DiGeorge syndrome
Gene: 22q11.2 region
Costello syndrome
Gene: HRAS
Costello syndrome
Gene: HRAS_MLPA
Carnitine deficiency, systemic primary
Gene: SLC22A5
Caudal regression syndrome
Gene: VANGL1
Carnitine deficiency, systemic primary
Gene: SLC22A5_MLPA
Cardiomyopathy, hypertrophic, type 6
Gene: PRKAG2
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