Abnormality of the liver, Abnormality of the metaphysis, Abnormality of the optic disc, Accessory oral frenulum, Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the lungs, Ataxia, Atypical scarring of skin, Bifid uvula, Blindness, Brachydactyly, Cataract, Cholestasis, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Constriction of peripheral visual field, Craniosynostosis, Encephalocele, Feeding difficulties in infancy, Frontal bossing, Glaucoma, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatic fibrosis, Hepatomegaly, High palate, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the capital femoral epiphysis, Hypotonia, Intellectual disability, Keratoconus, Macroglossia, Macular atrophy, Microcephaly, Microdontia, Micromelia, Narrow chest, Narrow forehead, Nephronophthisis, Nephropathy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Postaxial foot polydactyly, Postaxial hand polydactyly, Progressive night blindness, Progressive visual loss, Prominent forehead, Renal cyst, Renal dysplasia, Renal insufficiency, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizure, Sensorineural hearing impairment, Severely reduced visual acuity, Short femoral neck, Short foot, Short phalanx of finger, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Stage 5 chronic kidney disease, Toe syndactyly, Trigonocephaly, Type II diabetes mellitus, Visual impairment, Visual loss, Wide mouth, Wide nasal bridge, Widely spaced teeth

abnormal maxilla morphology, abnormal primary cilium morphology, abnormal red blood cell distribution width, abnormal somite development, absent alisphenoid bone, absent facial bone, absent neurocranium, absent palatine bone, absent tympanic ring, atrioventricular septal defect, cellular phenotype, curly tail, decreased kidney epithelial cell primary cilium length, dilated kidney collecting duct, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, facial bone hypoplasia, fusion of atlas and occipital bones, heart hemorrhage, increased kidney apoptosis, increased kidney cell proliferation, increased red blood cell distribution width, kidney medulla cyst, left pulmonary isomerism, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, palatal shelf hypoplasia