Abnormality of the orbital region, Absent septum pellucidum, Achilles tendon contracture, Adducted thumb, Agenesis of corpus callosum, Agyria, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Bifid uvula, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cataract, Cerebellar atrophy, Cerebellar cyst, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Deeply set eye, Difficulty walking, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Encephalocele, Exercise-induced myoglobinuria, Facial diplegia, Fatty replacement of skeletal muscle, Frequent falls, Frontal bossing, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gray matter heterotopia, Highly elevated creatine kinase, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Intellectual disability, Intellectual disability, profound, Iris coloboma, Kyphoscoliosis, Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Lissencephaly, Loss of ambulation, Low-set ears, Macrocephaly, Macroglossia, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Microtia, Mildly elevated creatine kinase, Motor delay, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Neonatal hypotonia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Partial agenesis of the corpus callosum, Peters anomaly, Polymicrogyria, Posteriorly rotated ears, Protruding ear, Proximal amyotrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Reduced forced vital capacity, Reduced muscle fiber alpha dystroglycan, Reduced vital capacity, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retrognathia, Scapular winging, Seizure, Skeletal muscle atrophy, Specific learning disability, Subcortical heterotopia, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, obsolete Congenital muscular dystrophy, obsolete Macrogyria, obsolete Toe walking