Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the tongue muscle, Absent septum pellucidum, Achilles tendon contracture, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Axial muscle weakness, Babinski sign, Bifid uvula, Calf muscle hypertrophy, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Chorioretinal dysplasia, Cleft palate, Congenital muscular dystrophy, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased cervical spine mobility, Decreased light- and dark-adapted electroretinogram amplitude, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Facial palsy, Fatigable weakness of skeletal muscles, Feeding difficulties, Flexion contracture, Generalized hypotonia, Glaucoma, Global developmental delay, Hip dislocation, Horizontal nystagmus, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hyporeflexia, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Iris coloboma, Joint contracture of the hand, Limb-girdle muscle weakness, Lissencephaly, Loss of ability to walk, Low-set ears, Lower limb hyperreflexia, Macrocephaly, Macroglossia, Macrogyria, Metatarsus valgus, Microcephaly, Microcornea, Micropenis, Microphthalmia, Motor delay, Multiple joint contractures, Muscle weakness, Muscular dystrophy, Myopia, Optic atrophy, Pachygyria, Pigmentary retinopathy, Polymicrogyria, Poor gross motor coordination, Poor speech, Posteriorly rotated ears, Protruding ear, Proximal muscle weakness, Reduced muscle fiber alpha dystroglycan, Reduced tendon reflexes, Respiratory insufficiency, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Severe muscular hypotonia, Short stature, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Specific learning disability, Spinal deformities, Strabismus, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly

abnormal retina layer morphology, abnormal retina neuronal layer morphology, abnormal retina outer plexiform layer morphology, abnormal retina vasculature morphology, abnormal sciatic nerve morphology, abnormal skeletal muscle morphology, abnormal soleus morphology, abnormal spinal nerve morphology, abnormal vitreous body morphology, absent Schwann cells, decreased body size, decreased grip strength, decreased retina inner nuclear layer thickness, decreased skeletal muscle fiber diameter, disorganized retina ganglion layer, disorganized retina outer plexiform layer, increased circulating creatinine level, increased variability of skeletal muscle fiber size, limb grasping, muscle degeneration, muscle phenotype, postnatal lethality, premature death, reduced female fertility, reduced fertility, sensorineural hearing loss, skeletal muscle degeneration, skeletal muscle endomysial fibrosis, skeletal muscle fiber degeneration, skeletal muscle fiber necrosis, thin retina outer nuclear layer, thin retina outer plexiform layer, vitreal fibroplasia, vitreous body deposition