Abnormality of the stapes, Abnormality of the ureter, Absent speech, Aganglionic megacolon, Alacrima, Annular pancreas, Anteriorly placed anus, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Bicornuate uterus, Brachycephaly, Broad alveolar ridges, Broad forehead, Broad nasal tip, Broad ribs, Camptodactyly, Central hypothyroidism, Cerebral atrophy, Cerebral cortical atrophy, Chiari type I malformation, Choanal stenosis, Choroid plexus cyst, Coarse facial features, Delayed eruption of teeth, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Dysphagia, Ependymoma, Epileptic spasm, Facial hemangioma, Failure to thrive, Failure to thrive in infancy, Frontal bossing, Gastrostomy tube feeding in infancy, Generalized hypertrichosis, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplasia of the epiglottis, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypoplastic pubic bone, Hypospadias, Hypsarrhythmia, Increased density of long bones, Infantile sensorineural hearing impairment, Intellectual disability, Kyphoscoliosis, Large earlobe, Laryngomalacia, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micrognathia, Micropenis, Midface retrusion, Motor delay, Myeloid leukemia, Narrow forehead, Narrow palate, Nephroblastoma, Nephrolithiasis, Neural tube defect, Neurodevelopmental delay, Opisthotonus, Overlapping fingers, Overlapping toe, Pointed chin, Postaxial hand polydactyly, Profound global developmental delay, Prominent forehead, Proptosis, Ptosis, Pulmonary hypoplasia, Radioulnar synostosis, Recurrent pneumonia, Renal cyst, Respiratory distress, Retrognathia, Sacrococcygeal teratoma, Sclerosis of skull base, Scoliosis, Seizure, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short philtrum, Short sternum, Single transverse palmar crease, Sloping forehead, Small scrotum, Spasticity, Splenopancreatic fusion, Stiff elbow, Streak ovary, Synophrys, Talipes equinovarus, Teratoma, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Umbilical hernia, Ureteral stenosis, Ventriculomegaly, Visual impairment, Vocal cord paralysis, Wide anterior fontanel, Wide distal femoral metaphysis, Wide mouth, Widely patent fontanelles and sutures, Wormian bones