Constipation, Decreased circulating antibody level, Delayed puberty, Dementia, Depression, Developmental regression, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Gastric ulcer, Gastrointestinal hemorrhage, Glaucoma, Hallucinations, Hypogonadism, Impaired collagen-induced platelet aggregation, Intellectual disability, Joint stiffness, Malabsorption, Male hypogonadism, Myopathy, Nephropathy, Neurogenic bladder, Nystagmus, Oligomenorrhea, Ophthalmoplegia, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Polydipsia, Primary amenorrhea, Recurrent urinary tract infections, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Sleep disturbance

abnormal skeletal muscle morphology, decreased body mass index, decreased body size, decreased circulating amylase level, decreased fluid intake, decreased food intake, decreased hair follicle number, decreased heart weight, decreased insulin secretion, decreased lean body mass, decreased locomotor activity, decreased oxygen consumption, decreased tidal volume, decreased trabecular bone thickness, dilated sarcoplasmic reticulum, enhanced autophagy, impaired skeletal muscle contractility, increased circulating aspartate transaminase level, increased circulating creatinine level, increased insulin sensitivity, increased lean body mass, increased mitochondrial size, muscle degeneration, muscle phenotype, premature aging, premature death, ruffled hair, small thoracic cavity, weakness