Abnormality of the hypothalamus-pituitary axis, Abnormality of the optic disc, Abnormality of the pinna, Absent septum pellucidum, Absent speech, Aganglionic megacolon, Anencephaly, Anteverted nares, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Apnea, Ataxia, Atrial septal defect, Bell-shaped thorax, Biparietal narrowing, Brachydactyly, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cervical spinal canal stenosis, Chronic lung disease, Cleft palate, Coloboma, Colpocephaly, Cone-shaped epiphysis, Congenital diaphragmatic hernia, Dandy-Walker malformation, Depressed nasal bridge, Dilated third ventricle, Dilation of lateral ventricles, Duane anomaly, Dysgenesis of the cerebellar vermis, Dysplastic corpus callosum, Early ossification of capital femoral epiphyses, Elevated hepatic transaminase, Elongated superior cerebellar peduncle, Encephalocele, Enlarged cisterna magna, Epicanthus, Episodic tachypnea, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Foot polydactyly, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hand polydactyly, Highly arched eyebrow, Hydrocephalus, Hydrops fetalis, Hyperechogenic kidneys, Hypertelorism, Hyporeflexia, Hypospadias, Hypotonia, Increased intracranial pressure, Intellectual disability, Iris coloboma, Long clavicles, Long face, Low-set ears, Low-set, posteriorly rotated ears, Meningocele, Micrognathia, Micromelia, Micropenis, Molar tooth sign on MRI, Myopia, Narrow chest, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Open operculum, Orofacial cleft, Overfolded helix, Polydactyly, Polyhydramnios, Polymicrogyria, Postaxial polydactyly, Preaxial polydactyly, Prominent nasal bridge, Proximal femoral metaphyseal irregularity, Ptosis, Pulmonary hypoplasia, Recurrent aspiration pneumonia, Recurrent respiratory infections, Redundant neck skin, Renal cortical cysts, Renal dysplasia, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Rhizomelic arm shortening, Rhizomelic leg shortening, Scoliosis, Seizure, Short neck, Short ribs, Short stature, Situs inversus totalis, Small cervical vertebral bodies, Strabismus, Subretinal deposits, Supernumerary nipple, Tachypnea, Thoracic hypoplasia, Tremor, Twelfth rib hypoplasia, Ventriculomegaly, Visual loss, Wide intermamillary distance