Absent or minimally ossified vertebral bodies, Acidosis, Agenesis of corpus callosum, Agenesis of permanent teeth, Ambiguous genitalia, Anal atresia, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Ascites, Atrial septal defect, Bifid epiglottis, Bifid tongue, Bile duct proliferation, Biliary cirrhosis, Blepharophimosis, Bowing of the long bones, Brachydactyly, Broad philtrum, Cataract, Cerebellar hypoplasia, Cholangitis, Cholestasis, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cutis laxa, Cystic hygroma, Dandy-Walker malformation, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Ectopic anus, Elevated circulating hepatic transaminase concentration, Epicanthus, Esophageal atresia, Everted lower lip vermilion, Fine hair, Finger syndactyly, Flat acetabular roof, Frontal bossing, Full cheeks, Fused teeth, Global developmental delay, Hepatic fibrosis, Hepatomegaly, High forehead, High hypermetropia, High palate, Horizontal ribs, Hydronephrosis, Hydrops fetalis, Hyperbilirubinemia, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Left ventricular hypertrophy, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Mesomelia, Metopic synostosis, Microdontia, Micrognathia, Micromelia, Midface retrusion, Myopia, Nail dysplasia, Narrow chest, Narrow forehead, Narrow palpebral fissure, Nystagmus, Omphalocele, Osteoporosis, Patent ductus arteriosus, Patent foramen ovale, Pectus excavatum, Plagiocephaly, Polycystic kidney dysplasia, Polydactyly, Polyhydramnios, Polysplenia, Portal fibrosis, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial hand polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Respiratory insufficiency, Retrognathia, Rhizomelia, Short distal phalanx of finger, Short foot, Short lingual frenulum, Short long bone, Short neck, Short palm, Short ribs, Short stature, Short thorax, Short uvula, Smooth philtrum, Sparse eyebrow, Sparse eyelashes, Sparse hair, Splenomegaly, Syndactyly, Taurodontia, Telecanthus, Tessier cleft, Thoracic dysplasia, Upslanted palpebral fissure, Urethrovaginal fistula, Uterus didelphys, Ventriculomegaly, Wide nasal bridge, Wide nose, Widely spaced teeth, obsolete Joint hyperflexibility, obsolete Joint laxity