Blindness, Bone spicule pigmentation of the retina, Cataract, Central scotoma, Chorioretinal atrophy, Color vision defect, Conductive hearing impairment, Cone/cone-rod dystrophy, Constriction of peripheral visual field, Encephalocele, Glaucoma, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular hyperpigmentation, Metamorphopsia, Muscular hypotonia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pendular nystagmus, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severely reduced visual acuity, Type II diabetes mellitus, Undetectable electroretinogram, Visual impairment, Wide nasal bridge

abnormal retinal horizontal cell morphology, abnormal retinal layer morphology, abnormal retinal outer nuclear layer morphology, abnormal retinal outer nuclear layer thickness, abnormal retinal outer plexiform layer morphology, abnormal retinal photoreceptor layer morphology, abnormal retinal photoreceptor morphology, abnormal retinal rod bipolar cell morphology, abnormal retinal rod cell outer segment morphology, abnormal rod electrophysiology, abnormal seminal vesicle morphology, abnormal thymus morphology, absent photoreceptor inner segment, absent photoreceptor outer segment, decreased a-wave amplitude, decreased b-wave amplitude, decreased retinal cone cell number, delayed circadian behavior phase, enlarged thymus, enlarged urinary bladder, increased fasting circulating glucose level, retinal outer nuclear layer degeneration, retinal photoreceptor degeneration, retinal spots, short photoreceptor inner segment, shortened RR interval, small thymus, thin retinal outer nuclear layer, thin retinal outer plexiform layer, vision/eye phenotype