Amaurosis fugax, Anteverted nares, Anxiety, Attention deficit hyperactivity disorder, Atypical scarring of skin, Basal cell carcinoma, Behavioral abnormality, Benign neoplasm of the central nervous system, Blindness, Cardiac diverticulum, Cataract, Color vision defect, Conductive hearing impairment, Cone/cone-rod dystrophy, Constipation, Constriction of peripheral visual field, Depression, Developmental regression, Dysarthria, Dysgraphia, Dyskinesia, Epiphora, Fatigue, Flexion contracture, Gait disturbance, Gastrointestinal hemorrhage, Glaucoma, Glioblastoma multiforme, Hallucinations, Hemiplegia/hemiparesis, Hepatocellular carcinoma, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Hypotonia, Increased intracranial pressure, Intellectual disability, Irritability, Keratoconus, Macular degeneration, Malabsorption, Memory impairment, Migraine, Nausea and vomiting, Neoplasm of the colon, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Neoplasm of the thyroid gland, Neuroblastoma, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pancreatic adenocarcinoma, Paresthesia, Peripheral visual field loss, Photophobia, Pituitary adenoma, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Spasticity, Stomach cancer, Type II diabetes mellitus, Urinary tract neoplasm, Uterine neoplasm, Visual field defect, Visual impairment, Weight loss, Wide nasal bridge

decreased retina inner nuclear layer thickness, decreased retina photoreceptor cell number, decreased susceptibility to type IV hypersensitivity reaction, increased retina apoptosis, renal/urinary system phenotype, thin retina inner plexiform layer, thin retina outer nuclear layer, vision/eye phenotype