The most commonly diagnosed disorders in our cohort, each accounting for 1–5% of positive results, were muscular dystrophies related to CAPN3 (n = 34), DYSF (n = 15), LAMA2 (n = 12), SGCA (n = 11), and DMD (n = 22), NF1-related neurofibromatosis (n = 12), ATM-related ataxia (n = 11), MYO7A-related hearing loss (n = 10), CHRNE-related myasthenic syndrome (n = 9), RYR1-related congenital myopathy (n = 8), SPG11-related spastic paraplegia (n = 8), and TYR-related Albinism (n = 7). Here, RYR1 is linked to neurofibromatosis.