Abnormal periventricular white matter morphology, 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 nervous system, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the tongue muscle, Abnormality of the voice, Absent septum pellucidum, Absent speech, Achilles tendon contracture, Agenesis of corpus callosum, Agyria, Anal atresia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Aplasia/Hypoplasia of the cerebellum, Areflexia, Atresia of the external auditory canal, Autistic behavior, Axial muscle weakness, Bifid uvula, Blindness, Buphthalmos, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Centrally nucleated skeletal muscle fibers, Cerebellar atrophy, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar malformation, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Clonus, Cognitive impairment, Coloboma, Congenital contracture, Corneal opacity, Cough, Cryptorchidism, Dandy-Walker malformation, Decreased cervical spine mobility, Decreased thalamic volume, Delayed speech and language development, Developmental cataract, Difficulty climbing stairs, Difficulty walking, Diffuse white matter abnormalities, Dilated fourth ventricle, Dyspnea, EEG abnormality, EMG abnormality, EMG: myopathic abnormalities, Easy fatigability, Elevated circulating creatine kinase concentration, Enlarged cisterna magna, Facial diplegia, Facial palsy, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Feeding difficulties, Flexion contracture, Frequent falls, Fusion of the cerebellar hemispheres, Gait disturbance, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hemiplegia/hemiparesis, Hip dislocation, Holoprosencephaly, Hydrocephalus, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypoplastic male external genitalia, Hyporeflexia, Hypotonia, Impaired visuospatial constructive cognition, Inability to walk, Increased variability in muscle fiber diameter, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, severe, Iris coloboma, Kyphoscoliosis, 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, Meningoencephalocele, Metatarsus valgus, Microcephaly, Microcornea, Micropenis, Microphthalmia, Microtia, Mildly elevated creatine kinase, Motor delay, Multiple joint contractures, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Myopathy, Myopia, Neonatal hypotonia, Neurological speech impairment, Occipital encephalocele, Olivopontocerebellar hypoplasia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Peters anomaly, Pigmentary retinopathy, Polymicrogyria, Poor gross motor coordination, Poor speech, Posterior fossa cyst, Posteriorly rotated ears, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Reduced muscle fiber alpha dystroglycan, Reduced tendon reflexes, Renal dysplasia, Respiratory distress, Respiratory insufficiency, Retinal atrophy, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Severe muscular hypotonia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Specific learning disability, Spinal deformities, Spinal rigidity, Strabismus, Submucous cleft hard palate, Thigh hypertrophy, Triceps weakness, Type 1 muscle fiber predominance, Type II lissencephaly, Ventriculomegaly, Visual impairment, Waddling gait, obsolete Congenital muscular dystrophy, obsolete Excessive daytime sleepiness, obsolete Macrogyria, obsolete Toe walking

embryonic growth arrest, embryonic lethality during organogenesis, complete penetrance, increased b-wave implicit time, increased neutrophil cell number, increased vasodilation, preweaning lethality, complete penetrance, thin retina outer nuclear layer, thin retina outer plexiform layer