Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Cryptorchidism, Dental malocclusion, Downslanted palpebral fissures, Downturned corners of mouth, Eversion of lateral third of lower eyelids, Exotropia, Flared nostrils, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hydronephrosis, Hypertelorism, Hypoplasia of the corpus callosum, Hypospadias, Immunodeficiency, Increased mean platelet volume, Intellectual disability, Long philtrum, Low-set ears, Lymphedema, Midface retrusion, Narrow forehead, Nevus, Optic atrophy, Overlapping toe, Patent ductus arteriosus, Posteriorly rotated ears, Progressive microcephaly, Prominent forehead, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Recurrent infections, Scoliosis, Seizure, Sensorineural hearing impairment, Short philtrum, Smooth philtrum, Sparse eyebrow, Synophrys, Tapered finger, Thin upper lip vermilion, Thrombocytopenia, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Webbed neck, Wide mouth, Wide nasal bridge, Widely spaced teeth

abnormal cortical ventricular zone morphology, abnormal cranium morphology, abnormal crypts of Lieberkuhn morphology, abnormal defecation, abnormal embryonic neuroepithelium morphology, abnormal enterocyte morphology, abnormal epidermis stratum corneum morphology, abnormal eye development, abnormal folding of telencephalic vesicles, abnormal glial cell morphology, abnormal hair follicle matrix region morphology, abnormal hair follicle morphology, abnormal interdigital cell death, abnormal intestinal enteroendocrine cell morphology, abnormal intestinal epithelium morphology, abnormal intestinal goblet cell morphology, abnormal intestine physiology, abnormal keratinocyte morphology, abnormal kidney development, abnormal kidney papilla morphology, abnormal limb morphology, abnormal long bone epiphyseal plate morphology, abnormal myelin sheath morphology, abnormal neocortex morphology, abnormal nephrogenic zone morphology, abnormal neuronal precursor proliferation, abnormal platelet activation, abnormal platelet dense granule physiology, abnormal proximal convoluted tubule morphology, abnormal secondary palate development, abnormal small intestinal crypt cell physiology, abnormal spinal cord central canal morphology, abnormal suckling behavior, abnormal telencephalon development, abnormal third ventricle morphology, abnormal xiphoid process morphology, absent Paneth cells, absent brain ependyma motile cilia, absent embryonic epiblast, absent gastric milk in neonates, absent hair follicle inner root sheath, decreased Paneth cell number, decreased birth body size, decreased body length, decreased body size, decreased embryo size, decreased locomotor activity, decreased neuronal precursor cell number, decreased renal glomerulus number, decreased renal tubule number, decreased ventricle muscle contractility, dermal cyst, disorganized embryonic tissue, disorganized long bone epiphyseal plate, domed cranium, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, enlarged lateral ventricles, enlarged third ventricle, epidermal hyperplasia, fused phalanges, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased lean body mass, increased platelet aggregation, increased small intestinal crypt cell apoptosis, increased susceptibility to induced thrombosis, increased width of hypertrophic chondrocyte zone, interdigital webbing, lethality throughout fetal growth and development, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, small embryonic telencephalon, small olfactory bulb, thin cerebral cortex, weakness