Amblyopia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Astigmatism, Babinski sign, Behavioral abnormality, Bifid uvula, Blurred vision, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral hemorrhage, Chorioretinal dysplasia, Cleft palate, Cognitive impairment, Corneal neovascularization, Corneal opacity, Cortical dysplasia, Cryptorchidism, Dandy-Walker malformation, Dementia, Developmental cataract, Dilatation of the cerebral artery, Ectopia pupillae, Elevated circulating creatine kinase concentration, Exotropia, Facial paralysis, Focal cortical dysplasia, Glaucoma, Global developmental delay, Hematuria, Hemiparesis, Hemiplegia, Hemolytic anemia, Hydrocephalus, Hyperintensity of cerebral white matter on MRI, Hypermetropia, Hypopigmentation of the fundus, Hypoplasia of penis, Hypoplasia of the iris, Hyporeflexia, Hypotonia, Intellectual disability, Iris coloboma, Ischemic stroke, Leukoencephalopathy, Limb dystonia, Lissencephaly, Low-set ears, Macrocephaly, Macrogyria, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Migraine, Multiple renal cysts, Muscle spasm, Muscle weakness, Muscular dystrophy, Myopia, Nephropathy, Optic atrophy, Pachygyria, Peripapillary atrophy, Polycoria, Polymicrogyria, Porencephalic cyst, Posteriorly rotated ears, Postural instability, Protruding ear, Raynaud phenomenon, Reduced visual acuity, Renal cyst, Renal insufficiency, Retinal arteriolar tortuosity, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinal hemorrhage, Retinal vascular tortuosity, Schizencephaly, Seizure, Skeletal muscle atrophy, Spasticity, Specific learning disability, Stroke, Submucous cleft hard palate, Supraventricular arrhythmia, Tetraparesis, Vascular dilatation, Ventriculomegaly, Visual field defect, Visual loss

abnormal lens capsule morphology, abnormal parietal endoderm morphology, abnormal podocyte foot process morphology, abnormal podocyte morphology, abnormal podocyte slit diaphragm morphology, abnormal proximal convoluted tubule morphology, abnormal renal glomerular capsule morphology, abnormal renal glomerulus basement membrane morphology, abnormal renal glomerulus morphology, abnormal retina blood vessel pattern, abnormal retina ganglion cell morphology, abnormal retina inner limiting membrane morphology, abnormal retina neuronal layer morphology, abnormal retina vasculature morphology, abnormal urine albumin level, bruising, decreased body size, decreased collagen level, decreased erythrocyte cell number, decreased grip strength, decreased hematocrit, decreased hemoglobin content, decreased urine osmolality, delaminated cerebral cortex, delayed kidney development, dilated glomerular capillary, dilated kidney collecting duct, dilated proximal convoluted tubule, embryonic lethality, complete penetrance, erythrocyturia, increased glomerular capsule space, irregularly shaped pupil, lethality throughout fetal growth and development, complete penetrance, nervous system phenotype, parietal capsular epithelium metaplasia, perinatal lethality, incomplete penetrance, podocyte foot process effacement, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, reduced fertility, renal cast, renal glomerulus cyst, subarachnoid hemorrhage, vacuolated lens, vitreal fibroplasia, weakness