Human (124 sources):
Abdominal distention,
Abdominal pain,
Abnormal cardiovascular system morphology,
Abnormal clavicle morphology,
Abnormal cortical bone morphology,
Abnormal femoral neck/head morphology,
Abnormal form of the vertebral bodies,
Abnormal lower limb bone morphology,
Abnormal rib morphology,
Abnormal vitreous humor morphology,
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 undertubulation,
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,
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,
obsolete Joint laxity
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