Anxiety, Aplasia/Hypoplasia of the corpus callosum, Autistic behavior, Behavioral abnormality, Chiari malformation, Coarse facial features, Conductive hearing impairment, Congenital hip dislocation, Craniosynostosis, Cryptorchidism, Delayed speech and language development, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, EEG abnormality, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Genu valgum, Genu varum, Global developmental delay, High anterior hairline, High forehead, High palate, Hirsutism, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypospadias, Hypotonia, Intellectual disability, Long face, Long foot, Long nose, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Micrognathia, Multiple renal cysts, Neoplasm, Neoplasm of the nervous system, Obesity, Overgrowth, Patent ductus arteriosus, Pointed chin, Polycystic ovaries, Polyphagia, Precocious puberty, Prominent forehead, Recurrent otitis media, Renal duplication, Sacrococcygeal teratoma, Scoliosis, Seizure, Short stature, Shyness, Slurred speech, Strabismus, Syringomyelia, Tall stature, Ventriculomegaly, Vesicoureteral reflux

decreased mean corpuscular volume, decreased prepulse inhibition, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, failure of chorioallantoic fusion, forebrain hypoplasia, hematopoietic system phenotype, incomplete embryo turning, increased gamma-delta T cell number, increased grip strength, increased heart weight, open neural tube, pharyngeal arch hypoplasia, prolonged QRS complex duration