Distal sensory impairment, Dysdiadochokinesis, Dysmetria, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Generalized hypotonia, Generalized joint hypermobility, Gowers sign, Growth delay, Hearing impairment, High palate, Hyperintensity of cerebral white matter on MRI, Hyperthyroidism, Hyporeflexia, Hypotelorism, Inability to walk, Increased circulating prolactin concentration, Increased intramyocellular lipid droplets, Increased muscle glycogen content, Increased variability in muscle fiber diameter, Intellectual disability, mild, Limb ataxia, Lipoma, Long face, Mandibular prognathia, Micrognathia, Mildly elevated creatine kinase, Mitochondrial myopathy, Motor delay, Multiple lipomas, Muscle weakness, Myalgia, Myopathic facies, Optic disc pallor, Pallor, Pectus excavatum, Pes cavus, Pigmentary retinopathy, Primary amenorrhea, Progressive cerebellar ataxia, Proximal muscle weakness, Schizophrenia, Scoliosis, Short stature, Somatic sensory dysfunction, Thick hair, Tremor, Truncal ataxia, Weakness of facial musculature