Agyria, Ankle flexion contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Bifid uvula, Buphthalmos, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Cleft palate, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Elevated circulating creatine kinase concentration, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Iris coloboma, Leukodystrophy, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Lissencephaly, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Motor delay, Muscle weakness, Muscular dystrophy, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Poor speech, Posteriorly rotated ears, Protruding ear, Reduced muscle fiber alpha dystroglycan, Respiratory insufficiency, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizure, Skeletal muscle atrophy, Specific learning disability, Submucous cleft hard palate, Unsteady gait, Ventriculomegaly, Waddling gait, obsolete Macrogyria

abnormal extraembryonic tissue morphology, abnormal hippocampus CA1 region morphology, abnormal hippocampus granule cell layer, abnormal myelin sheath morphology, abnormal neuromuscular synapse morphology, abnormal rod electrophysiology, abnormal skeletal muscle morphology, abnormal spinal cord dorsal column morphology, abnormal spinal cord ventral commissure morphology, abnormal stratification in cerebral cortex, absent extraembryonic ectoderm, absent mesoderm, cardiac fibrosis, cardiovascular system phenotype, decreased embryo size, decreased grip strength, embryonic growth arrest, embryonic lethality during organogenesis, incomplete penetrance, failure to gastrulate, increased body size, increased brain size, increased skeletal muscle fiber diameter, increased skeletal muscle fiber size, increased skeletal muscle weight, increased variability of skeletal muscle fiber size, limb grasping, myocardial fiber degeneration, no abnormal phenotype detected, prenatal lethality, incomplete penetrance, radial glial endfoot detachment, reduced long term potentiation, skeletal muscle necrosis, thin ventricular wall