Amblyopia, Anal atresia, Anal stenosis, Anonychia, Anteverted nares, Aortic root aneurysm, Aplasia of the left hemidiaphragm, Aplasia/Hypoplasia of the nipples, Arrhinencephaly, Asymmetric crying face, Athetosis, Atrial septal defect, Bicornuate uterus, Bifid scrotum, Bladder trabeculation, Blepharitis, Blepharophimosis, Brachydactyly, Broad forehead, Broad neck, Broad ribs, Camptodactyly, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Choreoathetosis, Chylothorax, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Congenital megaureter, Corneal opacity, Cryptorchidism, Cupped ear, Dandy-Walker malformation, Deep longitudinal plantar crease, Deep plantar creases, Delayed myelination, Depressed nasal bridge, Duodenal atresia, Dysphagia, Ectopic anus, Ectopic pancreatic tissue, Elevated alpha-fetoprotein, Epicanthus, Esophageal atresia, Esotropia, Facial hirsutism, Fair hair, Feeding difficulties in infancy, Flexion contracture of toe, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Generalized muscle weakness, Gingival overgrowth, Global developmental delay, High palate, Hoarse cry, Hydrocele testis, Hydronephrosis, Hydroureter, Hyperpigmented/hypopigmented macules, Hyperreflexia, Hypertelorism, Hypertrophy of the urinary bladder, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Hypoplasia of the optic tract, Hypoplastic fingernail, Hyporeflexia, Hypospadias, Hypotonia, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Joint contracture of the hand, Large fleshy ears, Large for gestational age, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrocephaly at birth, Meckel diverticulum, Median cleft upper lip, Micrognathia, Microphthalmia, Microretrognathia, Microtia, Multicystic kidney dysplasia, Narrow chest, Narrow forehead, Narrow mouth, Narrow palpebral fissure, Non-midline cleft of the upper lip, Nystagmus, Omphalocele, Opacification of the corneal stroma, Open mouth, Overfolded helix, Partial absence of cerebellar vermis, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Pes cavus, Polyhydramnios, Polysplenia, Posteriorly rotated ears, Prominent fingertip pads, Prominent occiput, Prominent palatine ridges, Prominent superior crus of antihelix, Prominent tragus, Proportionate shortening of all digits, Proximal muscle weakness in lower limbs, Proximal placement of thumb, Pulmonary arterial hypertension, Pulmonary hypoplasia, Rectovestibular fistula, Recurrent aspiration pneumonia, Renal agenesis, Renal cyst, Renal dysplasia, Right ventricular hypertrophy, Rocker bottom foot, Seizure, Severe global developmental delay, Severe muscular hypotonia, Shawl scrotum, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short thumb, Single transverse palmar crease, Small forehead, Small hand, Small nail, Smooth philtrum, Spasticity, Strabismus, Synophrys, Tapered finger, Tented upper lip vermilion, Tetralogy of Fallot, Thickened nuchal skin fold, Thin lower lip vermilion, Thin ribs, Thin upper lip vermilion, Thin vermilion border, Thoracic hypoplasia, Tremor, Unilateral renal dysplasia, Upslanted palpebral fissure, Ureteral duplication, Ureteral hypoplasia, Ventricular septal defect, Ventriculomegaly, Vertical nystagmus, Vesicoureteral reflux, Wide intermamillary distance, Wide mouth, Wide nasal bridge

abnormal supraoccipital bone morphology, decreased fetal size, forebrain hypoplasia, midbrain hypoplasia, small interparietal bone