Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the patella, Aplasia of the uterus, Astigmatism, Atrial septal defect, Autistic behavior, Bilateral single transverse palmar creases, Broad nasal tip, Cataract, Choanal atresia, Cleft palate, Coarse facial features, Compulsive behaviors, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Downslanted palpebral fissures, Duodenal ulcer, Ectopic kidney, Elbow dislocation, Epicanthus, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Gastric ulcer, Generalized hirsutism, Global developmental delay, Hearing impairment, Hemangioma, Hernia, High palate, Hoarse voice, Hydronephrosis, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypospadias, Hypotelorism, Hypotonia, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Intussusception, Kyphosis, Lacrimation abnormality, Long eyelashes, Low-set ears, Lumbosacral hirsutism, Microcephaly, Myopia, Nystagmus, obsolete Joint hyperflexibility, obsolete Joint laxity, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Posteriorly rotated ears, Preauricular skin tag, Prominent fingertip pads, Prominent interphalangeal joints, Ptosis, Recurrent respiratory infections, Renal hypoplasia, Renal hypoplasia/aplasia, Sacral dimple, Scoliosis, Seizure, Severe expressive language delay, Short chin, Short distal phalanx of finger, Short distal phalanx of the 5th finger, Short distal phalanx of the 5th toe, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Slow-growing hair, Sparse scalp hair, Spina bifida occulta, Strabismus, Tetralogy of Fallot, Thick eyebrow, Thick lower lip vermilion, Thin upper lip vermilion, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, Visual impairment, Wide mouth, Wide nasal bridge

abnormal response to social novelty, abnormal social investigation, abnormal vocalization, behavior/neurological phenotype, cognitive inflexibility, decreased birth body size, decreased body length, decreased body size, decreased cerebral cortex cell number, decreased circulating insulin-like growth factor I level, decreased corpus callosum size, decreased dentate gyrus size, decreased eosinophil cell number, decreased exploration in new environment, decreased fasting circulating glucose level, decreased grip strength, decreased heart weight, decreased kidney weight, decreased neuron number, decreased prepulse inhibition, decreased startle reflex, enhanced cued conditioning behavior, enlarged lateral ventricles, impaired cued conditioning behavior, improved glucose tolerance, increased anxiety-related response, increased fear-related response, increased freezing behavior, increased grooming behavior, increased thermal nociceptive threshold, lethality, complete penetrance, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, slow extinction of fear memory, small heart, small kidney, thin cerebral cortex