Abnormality of the hypothalamus-pituitary axis, Abnormality of the liver, Abnormality of the metaphysis, Aganglionic megacolon, Agenesis of corpus callosum, Ambiguous genitalia, Anal atresia, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the lungs, Apnea, Ataxia, Bell-shaped thorax, Bifid tongue, Biparietal narrowing, Brachydactyly, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft lip, Cleft palate, Coarse facial features, Cognitive impairment, Cone-shaped epiphysis, Cryptorchidism, Dandy-Walker malformation, Dextrocardia, Encephalocele, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Flat acetabular roof, Foot polydactyly, Gait disturbance, Generalized hypotonia, Global developmental delay, Hand polydactyly, Highly arched eyebrow, Horizontal ribs, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic facial bones, Hypoplastic pelvis, Hypotonia, Intellectual disability, Iris coloboma, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Micromelia, Microphthalmia, Microretrognathia, Midface retrusion, Molar tooth sign on MRI, Narrow chest, Natal tooth, Nephronophthisis, Nephropathy, Nystagmus, Oculomotor apraxia, Omphalocele, Orofacial cleft, Patent ductus arteriosus, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Prominent nasal bridge, Prominent nose, Ptosis, Pulmonary hypoplasia, Relative macrocephaly, Renal cyst, Renal hypoplasia, Renal insufficiency, Respiratory insufficiency, Retinal coloboma, Retinal dystrophy, Rhizomelia, Scoliosis, Seizure, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Squared iliac bones, Strabismus, Toe syndactyly, Tremor, Truncal ataxia, Unicoronal synostosis, Ventriculomegaly, Visual loss