Abnormality of the nervous system, Abnormality of the orbital region, Abnormality of the tongue muscle, Abnormality of the voice, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Areflexia, Ataxia, Axial muscle weakness, Blindness, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cleft palate, Clonus, Cognitive impairment, Coloboma, Cryptorchidism, Decreased cervical spine mobility, Decreased fetal movement, Decreased thalamic volume, Difficulty climbing stairs, Difficulty running, Difficulty walking, Diffuse white matter abnormalities, Dilatation of the ventricular cavity, Dilated fourth ventricle, Distal lower limb muscle weakness, Distal muscle weakness, Distal upper limb muscle weakness, EEG abnormality, EMG abnormality, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Elevated circulating creatine kinase concentration, Exercise intolerance, Facial palsy, Fatigable weakness, Fatigable weakness of bulbar muscles, Fatigable weakness of skeletal muscles, Favorable response of weakness to acetylcholine esterase inhibitors, Feeding difficulties, Flexion contracture, Frequent falls, Fusion of the cerebellar hemispheres, Gait disturbance, Generalized hypotonia, Generalized limb muscle atrophy, Generalized weakness of limb muscles, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hemiplegia/hemiparesis, High palate, Hip dislocation, Holoprosencephaly, Hydrocephalus, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypotonia, Inability to walk, Increased jitter at single fiber EMG, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Knee flexion contracture, Limb-girdle muscle weakness, Loss of ability to walk, Lower limb muscle weakness, Lumbar hyperlordosis, Macroglossia, Megalocornea, Meningocele, Microcephaly, Micropenis, Microphthalmia, Motor delay, Multiple joint contractures, Muscle fiber tubular inclusions, Muscle spasm, Muscle weakness, Muscular dystrophy, Myopathic facies, Myopathy, Myopia, Neck muscle weakness, Neurological speech impairment, Nystagmus, Occipital encephalocele, Oligohydramnios, Olivopontocerebellar hypoplasia, Optic atrophy, Optic nerve hypoplasia, Pes planus, Pigmentary retinopathy, Polymicrogyria, Poor gross motor coordination, Poor head control, Poor speech, Prolonged QT interval, Proximal muscle weakness, Proximal muscle weakness in upper limbs, Ptosis, Ragged-red muscle fibers, Reduced muscle fiber alpha dystroglycan, Reduced tendon reflexes, Respiratory insufficiency, Retinal detachment, Scapular winging, Scoliosis, Seizure, Sensorineural hearing impairment, Skeletal muscle hypertrophy, Spasticity, Spinal deformities, Strabismus, Type 1 muscle fiber predominance, Type II lissencephaly, Ventriculomegaly, Visual impairment, Waddling gait, obsolete Congenital muscular dystrophy, obsolete Joint laxity