Cryptorchidism, Curly hair, Decreased circulating IgA level, Deep palmar crease, Deep plantar creases, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Feeding difficulties, Focal cortical dysplasia type II, Focal impaired awareness seizure, Focal white matter lesions, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hemangioma, Hemimegalencephaly, Hemiparesis, High forehead, Hyperactivity, Hypertelorism, Hypoglycemia, Hypopigmented skin patches, Hypospadias, Hypotonia, Intellectual disability, Intestinal polyp, Lactose intolerance, Large for gestational age, Long philtrum, Macrocephaly, Megalencephaly, Midface retrusion, Neonatal hypoglycemia, Neurological speech impairment, Open mouth, Perisylvian polymicrogyria, Pes planus, Polymicrogyria, Prominent forehead, Protuberant abdomen, Rhizomelia, Seizure, Short chin, Short distal phalanx of finger, Short nose, Short proximal phalanx of finger, Smooth philtrum, Specific learning disability, Strabismus, Thin upper lip vermilion, Thoracic hypoplasia, Thrombocytopenia, Umbilical hernia, Ventriculomegaly, Wide anterior fontanel, Wide mouth, obsolete Focal seizures, afebril

abnormal embryonic neuroepithelium morphology, abnormal embryonic tissue morphology, abnormal extraembryonic tissue morphology, abnormal gastrocnemius morphology, abnormal gastrulation, abnormal humoral immune response, abnormal hypaxial muscle morphology, abnormal internode morphology, abnormal limb posture, abnormal mitochondrial physiology, abnormal muscle contractility, abnormal muscle relaxation, abnormal myelin sheath morphology, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal oxygen consumption, abnormal podocyte morphology, abnormal renal glomerular capsule morphology, abnormal renal glomerulus morphology, abnormal renal tubule morphology, abnormal sarcomere morphology, abnormal soleus morphology, abnormal thymus cell ratio, abnormal tibialis anterior morphology, abnormal translation, abnormal trophoblast giant cell morphology, abnormal trophoblast layer morphology, absent embryonic telencephalon, absent inner cell mass proliferation, cardiac interstitial fibrosis, decreased B cell proliferation, decreased CD4-positive, alpha beta T cell number, decreased Schwann cell number, decreased T cell proliferation, decreased blood urea nitrogen level, decreased body size, decreased cardiac muscle contractility, decreased circulating glucose level, decreased circulating insulin-like growth factor I level, decreased double-positive T cell number, decreased embryo size, decreased follicular B cell number, decreased interferon-gamma secretion, decreased interleukin-17 secretion, decreased interleukin-2 secretion, decreased lean body mass, decreased marginal zone B cell number, decreased oxygen consumption, decreased plasma cell number, decreased skeletal muscle weight, decreased splenocyte apoptosis, decreased splenocyte number, decreased splenocyte proliferation, decreased thymocyte number, decreased transitional stage T1 B cell number, decreased tumor necrosis factor secretion, decreased ventricle muscle contractility, dilated mitochondria, embryonic growth arrest, embryonic growth retardation, embryonic lethality, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, enlarged heart atrium, forebrain hypoplasia, growth/size/body region phenotype, immune system phenotype, incomplete embryo turning, increased CD4-positive, alpha beta T cell number, increased CD8-positive, alpha-beta T cell number, increased cardiomyocyte apoptosis, increased glomerular capsule space, increased heart ventricle size, increased mean corpuscular hemoglobin, increased regulatory T cell number, increased response of heart to induced stress, increased skeletal muscle glycogen level, increased total body fat amount, inner cell mass degeneration, no abnormal phenotype detected, podocyte foot process effacement, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, skeletal muscle degeneration, skeletal muscle fiber degeneration, small ectoplacental cone, small myocardial fiber, small spleen, thin interventricular septum, thin ventricular wall