Anxiety, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lens, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Blindness, Cachexia, Cataract, Cerebral cortical atrophy, Clonus, Corneal opacity, Cryptorchidism, Deeply set eye, Delayed puberty, Dementia, Developmental regression, Diabetes mellitus, EEG abnormality, Ectopia lentis, Erectile dysfunction, Exudative vitreoretinopathy, Failure to thrive, Falciform retinal fold, Glaucoma, Hallucinations, Hyperreflexia, Hypoplasia of the iris, Hypotelorism, Hypotonia, Intellectual disability, progressive, Intraretinal exudate, Irritability, Macrotia, Malar flattening, Microcephaly, Microphthalmia, Migraine, Motor stereotypy, Muscle weakness, Narrow nasal bridge, Neoplasm of the eye, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Peripheral vitreous opacities, Protruding ear, Psychosis, Reduced visual acuity, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysplasia, Retinal fold, Retinal hole, Retinal neovascularization, Retinal vascular tortuosity, Sclerocornea, Scoliosis, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Shallow anterior chamber, Sleep disturbance, Spasticity, Subretinal exudate, Thin vermilion border, Uterine rupture, Vascular neoplasm, Venous insufficiency

absent strial marginal cells, behavior/neurological phenotype, blood vessel congestion, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased retina photoreceptor cell number, disorganized retina ganglion layer, disorganized retina layers, increased or absent threshold for auditory brainstem response, increased susceptibility to age-related hearing loss, increased vascular permeability, photoreceptor outer segment degeneration, reproductive system phenotype, sensorineural hearing loss, stria vascularis degeneration, type I spiral ligament fibrocyte degeneration, vision/eye phenotype, vitreous body deposition