Abnormality of neutrophils, Abnormality of the optic nerve, 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, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Atrial septal defect, Bifid uvula, Brachycephaly, Calf muscle hypertrophy, Camptodactyly of finger, Cataract, Cerebellar atrophy, Cerebellar cyst, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Cognitive impairment, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Difficulty walking, Dilated cardiomyopathy, Dolichocephaly, EEG abnormality, EMG abnormality, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Encephalocele, Exaggerated startle response, Facial diplegia, Fatty replacement of skeletal muscle, Flexion contracture, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperlordosis, Hypermetropia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the pyramidal tract, Hyporeflexia, Hypotonia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Kyphoscoliosis, Limb-girdle muscle atrophy, Lipoatrophy, Lissencephaly, Low-set ears, Macrocephaly, Mask-like facies, Meningocele, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Mildly elevated creatine kinase, Motor delay, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Myocardial fibrosis, Myopathy, Myopia, Neonatal hypotonia, Neurological speech impairment, Optic atrophy, Pachygyria, Palmoplantar keratoderma, Pectus excavatum, Plagiocephaly, Polymicrogyria, Posteriorly rotated ears, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Pulmonic stenosis, Reduced muscle fiber alpha dystroglycan, Respiratory insufficiency, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Specific learning disability, Spinal rigidity, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Transposition of the great arteries, Type II lissencephaly, Ventriculomegaly, Visual impairment, Weak cry, obsolete Congenital muscular dystrophy, obsolete Macrogyria, obsolete Toe walking

decreased grip strength, decreased satellite cell number, decreased skeletal muscle weight, embryonic growth arrest, embryonic lethality between implantation and placentation, incomplete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, embryonic lethality, incomplete penetrance, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired basement membrane formation, increased collagen deposition in the muscles, increased embryonic epiblast cell apoptosis, increased variability of skeletal muscle fiber size, premature death, skeletal muscle fibrosis, skeletal muscle necrosis, weakness