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, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Axial muscle weakness, Bifid uvula, Blindness, Buphthalmos, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Clonus, Cognitive impairment, Coloboma, Congenital contracture, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased cervical spine mobility, Decreased thalamic volume, Delayed gross motor development, Difficulty climbing stairs, Difficulty walking, Diffuse white matter abnormalities, Dilated cardiomyopathy, Dilated fourth ventricle, EEG abnormality, EMG abnormality, Elevated circulating creatine kinase concentration, Encephalocele, Facial palsy, Fatigable weakness of skeletal muscles, Feeding difficulties, Flexion contracture, Frontal cortical atrophy, Fusion of the cerebellar hemispheres, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gray matter heterotopia, Hemiplegia/hemiparesis, Hip dislocation, Holoprosencephaly, Hydrocephalus, Hyperlordosis, Hypermetropia, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hyporeflexia, Hypotonia, Inability to walk, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, severe, Iris coloboma, Left ventricular hypertrophy, Left ventricular systolic dysfunction, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Lissencephaly, Loss of ability to walk, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Megalocornea, Meningocele, Metatarsus valgus, Microcephaly, Microcornea, Micropenis, Microphthalmia, Motor delay, Multiple joint contractures, Muscle weakness, Muscular dystrophy, Myopathy, Myopia, Neurological speech impairment, Occipital encephalocele, Olivopontocerebellar hypoplasia, Open mouth, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Persistent pupillary membrane, Peters anomaly, Pigmentary retinopathy, Polymicrogyria, Poor gross motor coordination, Poor speech, Posteriorly rotated ears, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Reduced muscle fiber alpha dystroglycan, Reduced tendon reflexes, Respiratory insufficiency, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Right bundle branch block, Scapular winging, Scapuloperoneal amyotrophy, Scoliosis, Seizure, Severe muscular hypotonia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Specific learning disability, Spinal deformities, Spinal rigidity, Strabismus, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, Visual impairment, obsolete Congenital muscular dystrophy, obsolete Macrogyria

abnormal radial glial cell morphology, decreased embryo size, embryonic growth arrest, embryonic lethality before implantation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, failure of blastocyst formation, nervous system phenotype