Constriction of peripheral visual field, Drug-induced agranulocytosis, Glaucoma, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Type II diabetes mellitus, Visual impairment, Wide nasal bridge

abnormal floor plate morphology, abnormal forebrain development, abnormal heart looping, abnormal hindbrain development, abnormal lateral ganglionic eminence morphology, abnormal left-right axis patterning, abnormal limb bud morphology, abnormal long bone epiphyseal plate morphology, abnormal lung development, abnormal medial ganglionic eminence morphology, abnormal midbrain development, abnormal nervous system development, abnormal osteoblast morphology, abnormal oval cell physiology, abnormal palatal rugae morphology, abnormal pancreas secretion, abnormal pancreatic acinar cell morphology, abnormal pancreatic acinus morphology, abnormal pancreatic duct morphology, abnormal perichondrium morphology, abnormal phalanx morphology, abnormal renal tubule epithelial cell primary cilium morphology, abnormal skeleton development, abnormal tarsal bone morphology, abnormal telencephalon morphology, absent embryonic cilia, absent floor plate, absent oval cells, broad limb buds, decreased body size, decreased circulating glucose level, decreased long bone epiphyseal plate size, decreased pancreatic acinar cell number, decreased pancreatic primary cilium length, decreased pancreatic primary cilium number, decreased urine osmolality, dilated proximal convoluted tubule, disheveled coat, disorganized long bone epiphyseal plate, disproportionate dwarf, distended pericardium, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to organogenesis, increased bile salt level, increased circulating alkaline phosphatase level, increased thigmotaxis, kinked neural tube, lethality throughout fetal growth and development, incomplete penetrance, midbrain hyperplasia, nervous system phenotype, open neural tube, pancreatic acinar cell atrophy, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, respiratory system phenotype, small pancreas, supernumerary molars, wavy neural tube