Abnormally large globe, Abnormal optic nerve morphology, Abnormal pyramidal sign, Absent septum pellucidum, Agenesis of corpus callosum, Agyria, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Bifid uvula, Blindness, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Clonus, Cognitive impairment, Coloboma, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased thalamic volume, Difficulty climbing stairs, Diffuse white matter abnormalities, Dilated fourth ventricle, Elevated circulating creatine kinase concentration, Feeding difficulties, Flexion contracture, Fusion of the cerebellar hemispheres, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hydrocephalus, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the pons, Hyporeflexia, Hypotonia, Intellectual disability, Intellectual disability, mild, Iris coloboma, Lissencephaly, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Megalocornea, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Motor delay, Muscle weakness, Muscular dystrophy, Myopia, Neonatal hypotonia, obsolete Congenital muscular dystrophy, obsolete Macrogyria, obsolete Psychomotor retardation, Occipital encephalocele, Olivopontocerebellar hypoplasia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Poor head control, Poor speech, Posteriorly rotated ears, Progressive microcephaly, Protruding ear, Proximal muscle weakness, Reduced muscle fiber alpha dystroglycan, Reduced visual acuity, Respiratory insufficiency due to muscle weakness, Retinal degeneration, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Specific learning disability, Strabismus, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, Visual impairment

impaired cued conditioning behavior, increased chemical nociceptive threshold, reduced sensorimotor gating