Abnormal pons morphology, Abnormal pyramidal sign, Abnormality iris morphology, Abnormality of brain morphology, Abnormality of connective tissue, Abnormality of movement, Abnormality of neuronal migration, Abnormality of the Achilles tendon, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the tongue muscle, Abnormality of the voice, Absent septum pellucidum, Achilles tendon contracture, Agenesis of corpus callosum, Agyria, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Aplasia/Hypoplasia of the cerebellum, Areflexia, Axial muscle weakness, Bifid uvula, Blindness, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Chorioretinal dysplasia, Cleft palate, Clonus, Cognitive impairment, Coloboma, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased cervical spine mobility, Decreased thalamic volume, Delayed gross motor development, Difficulty climbing stairs, Difficulty running, Difficulty walking, Diffuse white matter abnormalities, Dilated cardiomyopathy, Dilated fourth ventricle, EEG abnormality, EMG abnormality, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Facial diplegia, Facial palsy, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Feeding difficulties, Feeding difficulties in infancy, Frequent falls, Fusion of the cerebellar hemispheres, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gray matter heterotopia, Hemiplegia/hemiparesis, Hip dislocation, Holoprosencephaly, Hydrocephalus, Hyperlordosis, Hyperreflexia, 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, mild, Intellectual disability, profound, Intellectual disability, severe, Iris coloboma, Kyphoscoliosis, Kyphosis, Left ventricular hypertrophy, Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Lissencephaly, Loss of ability to walk, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Megalocornea, Meningocele, Metatarsus valgus, Microcephaly, Microcornea, Micropenis, Microphthalmia, Mildly elevated creatine kinase, Motor delay, Multiple joint contractures, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Myopathy, Myopia, Neonatal hypotonia, Neurological speech impairment, Nocturnal hypoventilation, Occipital encephalocele, Olivopontocerebellar hypoplasia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Pelvic girdle muscle weakness, Pigmentary retinopathy, Polymicrogyria, Poor gross motor coordination, Poor speech, Posteriorly rotated ears, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Reduced forced vital capacity, Reduced muscle fiber alpha dystroglycan, Reduced muscle fiber merosin, Reduced tendon reflexes, Respiratory insufficiency, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Severe muscular hypotonia, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Specific learning disability, Spinal deformities, Strabismus, Submucous cleft hard palate, Thigh hypertrophy, Type II lissencephaly, Ventriculomegaly, Vertebral fusion, Visual impairment, Waddling gait, obsolete Congenital muscular dystrophy, obsolete Macrogyria, obsolete Restrictive deficit on pulmonary function testing, obsolete Toe walking

abnormal cortical plate morphology, abnormal dentate gyrus morphology, abnormal extensor digitorum longus morphology, abnormal eye size, abnormal inferior colliculus morphology, abnormal meninges morphology, abnormal neocortex morphology, abnormal radial glial cell morphology, abnormal retina ganglion layer morphology, abnormal retina inner limiting membrane morphology, abnormal retina inner nuclear layer morphology, abnormal retina vasculature morphology, abnormal skeletal muscle fiber type ratio, abnormal stratification in cerebral cortex, abnormal superior colliculus morphology, abnormal tectum morphology, abnormal tibialis anterior morphology, abnormal vitreous body morphology, cardiovascular system phenotype, decreased birth body size, decreased retina inner nuclear layer thickness, decreased skeletal muscle fiber number, domed cranium, ectopic neuron, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, homeostasis/metabolism phenotype, increased a-wave amplitude, increased circulating alanine transaminase level, increased skeletal muscle fiber diameter, increased skeletal muscle fiber size, increased variability of skeletal muscle fiber size, limb grasping, liver/biliary system phenotype, muscle degeneration, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, parietal bossing, perinatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, renal/urinary system phenotype, skeletal muscle fiber degeneration, skeletal muscle fiber necrosis, skeletal muscle fibrosis, thin retina outer nuclear layer, vitreal fibroplasia