Abnormality of pelvic girdle bone morphology, Abnormality of the cardiovascular system, Abnormality of the nervous system, Abnormality of the pancreas, Abnormality of the respiratory system, Abnormality of the vertebral column, Absent anterior chamber of the eye, Angle closure glaucoma, Ascites, Back pain, Barrel-shaped chest, Blindness, Blue sclerae, Brachycephaly, Broad forehead, Broad jaw, Cataract, Clavicular sclerosis, Conductive hearing impairment, Congenital blindness, Congenital nystagmus, Corneal opacity, Cranial hyperostosis, Cranial nerve paralysis, Craniofacial hyperostosis, Craniosynostosis, Crumpled long bones, Delayed gross motor development, Delayed speech and language development, Dental malocclusion, Diaphyseal thickening, Dyspnea, Elevated circulating alkaline phosphatase concentration, Exudative retinopathy, Exudative vitreoretinopathy, Facial palsy, Falciform retinal fold, Feeding difficulties in infancy, Flat forehead, Frontal bossing, Gastroesophageal reflux, Gastrointestinal hemorrhage, Generalized hypotonia, Generalized osteosclerosis, Glioma, Global developmental delay, Growth abnormality, Headache, Hearing impairment, Hepatic cysts, Hepatomegaly, High forehead, Horizontal pendular nystagmus, Hyperostosis, Hypertelorism, Hypotonia, Increased bone mineral density, Increased intracranial pressure, Increased susceptibility to fractures, Increased total bilirubin, Infantile muscular hypotonia, Intellectual disability, mild, Iris atrophy, Isosexual precocious puberty, Joint hypermobility, Joint laxity, Kyphoscoliosis, Loss of ability to walk, Low serum calcitriol, Macrocephaly, Mandibular prognathia, Metacarpal diaphyseal endosteal sclerosis, Metaphyseal widening, Metatarsal diaphyseal endosteal sclerosis, Microcephaly, Microphthalmia, Mild global developmental delay, Moderately reduced visual acuity, Multiple renal cysts, Nystagmus, Optic atrophy, Optic atrophy from cranial nerve compression, Osteopenia, Osteopetrosis, Osteoporosis, Pathologic fracture, Peripheral retinal avascularization, Phthisis bulbi, Platyspondyly, Polycystic liver disease, Posterior vitreous detachment, Preauricular skin tag, Reduced visual acuity, Renal cyst, Respiratory insufficiency, Retinal detachment, Retinal exudate, Sclerotic vertebral body, Sensorineural hearing impairment, Severely reduced visual acuity, Short stature, Subcapsular cataract, Thickened calvaria, Thickened cortex of long bones, Torus palatinus, Tractional retinal detachment, Vascular dilatation, Ventricular septal defect, Visual acuity light perception with projection, Visual impairment, Vitreoretinopathy, Vitreous hemorrhage, Waddling gait, Wormian bones

abnormal phalanx morphology, abnormal retina blood vessel morphology, abnormal retina layer morphology, abnormal retina nerve fiber layer morphology, abnormal retina neuronal layer morphology, abnormal retina outer nuclear layer morphology, abnormal retina outer plexiform layer morphology, abnormal retina pigment epithelium morphology, abnormal retina vasculature morphology, abnormal serotonin level, abnormal vascular plexus formation, blood vessel congestion, decreased a-wave amplitude, decreased apoptosis, decreased areal bone mineral density, decreased b-wave amplitude, decreased bone mass, decreased bone mineral content, decreased bone mineralization, decreased bone ossification, decreased bone stiffness, decreased bone strength, decreased bone volume, decreased compact bone mass, decreased diameter of femur, decreased diameter of tibia, decreased insulin secretion, decreased locomotor activity, decreased osteoblast cell number, decreased osteoblast proliferation, decreased osteoclast cell number, decreased serotonin level, decreased total retina thickness, decreased trabecular bone mass, delayed bone ossification, disorganized retina inner nuclear layer, disorganized retina outer nuclear layer, disorganized retina outer plexiform layer, homeostasis/metabolism phenotype, increased bone mass, increased bone ossification, increased cholesterol level, increased serotonin level, increased thigmotaxis, increased vascular permeability, no abnormal phenotype detected, persistence of hyaloid vascular system, postnatal lethality, incomplete penetrance, retina ganglion cell degeneration, retina photoreceptor degeneration, skeleton phenotype, thin parietal bone, thin retina inner plexiform layer, thin retina outer nuclear layer, thin retina outer plexiform layer, vision/eye phenotype