Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Abnormality of peripheral nerve conduction, Abnormality of the musculature of the lower limbs, Abnormality of the nervous system, Abnormality of the vertebral column, Absent Achilles reflex, Agitation, Amyotrophic lateral sclerosis, Anxiety, Apathy, Aphasia, Apraxia, Areflexia, Arthralgia, Babinski sign, Back pain, Behavioral abnormality, Bilateral sensorineural hearing impairment, Bone pain, Bowel incontinence, Brain atrophy, Bulbar palsy, Calvarial hyperostosis, Cardiomyopathy, Cataract, Congestive heart failure, Cough, Cranial nerve compression, Decreased nerve conduction velocity, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Dementia, Depression, Difficulty climbing stairs, Difficulty walking, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EMG: chronic denervation signs, EMG: myopathic abnormalities, EMG: neuropathic changes, Elevated alkaline phosphatase of bone origin, Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase concentration, Emotional lability, Facial diplegia, Facial palsy, Fasciculations, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Frequent falls, Frontal cortical atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized amyotrophy, Generalized muscle weakness, Gliosis, Global brain atrophy, Hallucinations, Hammertoe, Hepatic steatosis, Hip pain, Hyperlordosis, Hyporeflexia, Impaired vibration sensation in the lower limbs, Increased spinal bone density, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Intellectual disability, Intrinsic hand muscle atrophy, Language impairment, Laryngospasm, Limb fasciculations, Limb muscle weakness, Lower limb hyperreflexia, Lumbar hyperlordosis, Mildly elevated creatine kinase, Motor axonal neuropathy, Muscle spasm, Muscle weakness, Mutism, Myalgia, Myopathy, Nausea and vomiting, Necrotizing myopathy, Neurodegeneration, Neuronal loss in the cerebral cortex, Osteolysis, Pain, Paralysis, Paraparesis, Parkinsonism, Pathologic fracture, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Peripheral neuropathy, Perseveration, Pes cavus, Poor fine motor coordination, Progressive cerebellar ataxia, Progressive neurologic deterioration, Proximal muscle weakness, Ptosis, Recurrent fractures, Reduced vital capacity, Respiratory insufficiency, Rimmed vacuoles, Scapular winging, Sensory axonal neuropathy, Short stature, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Somatic sensory dysfunction, Spastic gait, Spastic paraplegia, Spasticity, Supranuclear gaze palsy, Temporal cortical atrophy, Tetraparesis, Tongue fasciculations, Tremor, Ubiquitin-positive cerebral inclusion bodies, Upper motor neuron dysfunction, Urinary bladder sphincter dysfunction, Urinary incontinence, Waddling gait, Weakness due to upper motor neuron dysfunction, Weakness of muscles of respiration, Weakness of the intrinsic hand muscles, Xerostomia

decreased trabecular bone connectivity density, embryonic lethality before implantation, complete penetrance, focal hair loss, increased compact bone thickness, increased mitochondrial fission, increased osteoclast cell number, increased variability of skeletal muscle fiber size, postnatal lethality, complete penetrance, preweaning lethality, complete penetrance, skeletal muscle endomysial fibrosis, skeletal muscle fiber necrosis