Blindness, Bone spicule pigmentation of the retina, Cataract, Color vision defect, Conductive hearing impairment, Cone/cone-rod dystrophy, Constriction of peripheral visual field, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Elevated circulating hepatic transaminase concentration, Finger syndactyly, Generalized hirsutism, Glaucoma, Hearing impairment, Hepatic fibrosis, Horseshoe kidney, Hyperautofluorescent macular lesion, Hyperinsulinemia, Hyperreflexia, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the fovea, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Low-set, posteriorly rotated ears, Macular atrophy, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Myopia, Nephrotic syndrome, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Overweight, Photophobia, Pigmentary retinopathy, Postaxial hand polydactyly, Postaxial polydactyly, Progressive night blindness, Progressive visual loss, Prominent nasal bridge, Reduced amplitude of dark-adapted bright flash electroretinogram a-wave, Reduced visual acuity, Retinal atrophy, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Short neck, Short stature, Skeletal muscle atrophy, Type II diabetes mellitus, Visual impairment, Wide nasal bridge