Atrial septal defect, Bicuspid aortic valve, Bifid distal phalanx of toe, Bifid tongue, Bilateral single transverse palmar creases, Blue sclerae, Brachydactyly, Broad hallux phalanx, Broad nasal tip, Broad thumb, Broad toe, Camptodactyly, Camptodactyly of finger, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Delayed cranial suture closure, Delayed eruption of permanent teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Disproportionate short-limb short stature, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Ectopic anus, Elbow dislocation, Epicanthus, Exaggerated cupid's bow, Finger syndactyly, Fingernail dysplasia, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hearing impairment, High forehead, Hydronephrosis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic female external genitalia, Hypoplastic labia majora, Hypoplastic sacrum, Intellectual disability, Kyphosis, Long eyelashes, Long palpebral fissure, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Malar flattening, Mesomelia, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Multicystic kidney dysplasia, Nail dysplasia, Nevus flammeus, Omphalocele, Open bite, Orofacial cleft, Pectus carinatum, Pectus excavatum, Posteriorly rotated ears, Proptosis, Ptosis, Radial deviation of finger, Recurrent respiratory infections, Relative macrocephaly, Renal duplication, Retrognathia, Rib fusion, Right ventricular outlet tract obstruction, Sacral dimple, Sandal gap, Scoliosis, Short distal phalanx of finger, Short middle phalanx of the 5th finger, Short neck, Short nose, Short palm, Short philtrum, Short stature, Small hand, Split hand, Strabismus, Supernumerary tooth, Synostosis of carpal bones, Tented upper lip vermilion, Tetralogy of Fallot, Thin upper lip vermilion, Thoracic hemivertebrae, Thoracolumbar scoliosis, Toe syndactyly, Triangular mouth, Umbilical hernia, Upslanted palpebral fissure, Ventral hernia, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Wide anterior fontanel, Wide mouth, Wide nasal bridge, obsolete Hypotrichosis

abnormal mammary gland morphology, abnormal mean corpuscular hemoglobin, abnormal mean corpuscular volume, abnormal retina blood vessel morphology, abnormal skin coloration, abnormal snout morphology, abnormal sternum morphology, abnormal vitelline vein topology, absent stapedial artery, atrioventricular septal defect, decreased cardiac muscle contractility, decreased circulating bilirubin level, decreased fetal size, decreased intestine length, decreased lean body mass, decreased locomotor activity, decreased mean corpuscular hemoglobin, decreased mean corpuscular hemoglobin concentration, decreased mean corpuscular volume, decreased red blood cell distribution width, decreased spleen weight, dilated liver sinusoidal spaces, herniated liver, increased grip strength, increased osteoblast cell number, irregularly shaped pupil, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, respiratory system phenotype, small adrenal glands, small frontal bone