Abnormal testis morphology, Abnormality iris morphology, Abnormality of brain morphology, Abnormality of fundus pigmentation, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia involving the skeletal musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Atypical scarring of skin, Bifid uvula, Blindness, Buphthalmos, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Clonus, Cognitive impairment, Coloboma, Conductive hearing impairment, Congenital muscular dystrophy, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cystoid macular edema, Dandy-Walker malformation, Decreased light- and dark-adapted electroretinogram amplitude, Decreased thalamic volume, Difficulty climbing stairs, Diffuse white matter abnormalities, Dilated fourth ventricle, EEG abnormality, EMG abnormality, Elevated circulating creatine kinase concentration, Enlarged flash visual evoked potentials, Everted lower lip vermilion, Fatigue, Fusion of the cerebellar hemispheres, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperinsulinemia, Hyperlordosis, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypogonadism, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the pons, Hypoplasia of the retina, Hyporeflexia, Hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, severe, Iris coloboma, Keratoconus, Lissencephaly, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Macrogyria, Malar flattening, Megalocornea, Meningocele, Metatarsus valgus, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Motor delay, Muscle weakness, Muscular dystrophy, Myoclonus, Myopathy, Myopia, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Occipital encephalocele, Olivopontocerebellar hypoplasia, Opacification of the corneal stroma, Ophthalmoplegia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Pallor, Peripapillary atrophy, Photophobia, Polymicrogyria, Posteriorly rotated ears, Progressive night blindness, Protruding ear, Proximal muscle weakness, Reduced muscle fiber alpha dystroglycan, Reduced visual acuity, Retinal atrophy, Retinal degeneration, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinal thinning, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short nasal bridge, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Specific learning disability, Strabismus, Submucous cleft hard palate, Type II diabetes mellitus, Type II lissencephaly, Uncontrolled eye movements, Undetectable electroretinogram, Ventriculomegaly, Visual impairment, Wide nasal bridge

abnormal inferior colliculus morphology, abnormal meninges morphology, abnormal muscle regeneration, abnormal neocortex morphology, abnormal radial glial cell morphology, abnormal retina blood vessel pattern, abnormal retina inner limiting membrane morphology, abnormal retina layer morphology, abnormal skeletal muscle satellite cell proliferation, abnormal stratification in cerebral cortex, abnormal superior colliculus morphology, abnormal tongue muscle morphology, cardiovascular system phenotype, decreased body size, decreased circulating glucose level, decreased litter size, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, decreased skeletal muscle fiber number, decreased skeletal muscle fiber size, impaired basement membrane formation, increased variability of skeletal muscle fiber size, limb grasping, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, reduced female fertility, retina microaneurysm, small cerebellum, thin cerebral cortex, thin retina outer nuclear layer