Table 1.

Reason for referral included in study.

Reasons for Referral Included in Study
Developmental delay
Cognitive impairment/Intellectual disability
Autism
Behavioral difficulties
Peripheral neuropathy
Hypotonia
Seizures/epilepsy
Encephalopathy
Recurrent stroke/stroke-like episodes
Chronic fatigue/Weakness
Myopathy/Muscle Atrophy
Rhabdomyolysis
Dystonia/Movement disorders
Pyramidal signs/Spastic paraparesis
Ataxia
Ocular concerns (Ectopia lentis, retinitis pigmentosa, ophthalmoplegia)
Musculoskeletal complaints
Cardiomyopathy
Suggestive labs/imaging