Anisocoria, Anterior hypopituitarism, Ataxia, Athetosis, Babinski sign, Bilateral tonic-clonic seizure, CNS hypomyelination, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral white matter atrophy, Chorea, Decreased circulating cortisol level, Developmental regression, Difficulty walking, Dysarthria, Dystonia, EEG abnormality, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Exercise-induced muscle fatigue, Exophoria, Feeding difficulties, Generalized hyperpigmentation, Generalized hypotonia, Global developmental delay, Gowers sign, Hepatic steatosis, Hepatomegaly, Hip dysplasia, Hyperkinetic movements, Hyperlordosis, Hyperpigmentation of the skin, Hyperreflexia, Hyporeflexia, Hypotonia, Inability to walk, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, borderline, Intrauterine growth retardation, Iris coloboma, Limb-girdle muscular dystrophy, Microcephaly, Motor axonal neuropathy, Muscle fiber atrophy, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Myopathy, Myopia, Optic atrophy, Orthostatic hypotension, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Pes cavus, Plantar hyperkeratosis, Poor speech, Progressive proximal muscle weakness, Proximal muscle weakness, Respiratory insufficiency, Restrictive ventilatory defect, Right ventricular dilatation, Scoliosis, Seizure, Sensorineural hearing impairment, Short stature, Speech apraxia, Strabismus, Tremor, Truncal ataxia, Visual impairment, Waddling gait, obsolete Decreased circulating aldosterone level