Bicuspid aortic valve, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital sensorineural hearing impairment, Cryptorchidism, Diabetes mellitus, Dilated fourth ventricle, Dilation of lateral ventricles, Dysgenesis of the cerebellar vermis, Eczematoid dermatitis, Enlarged cisterna magna, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypospadias, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Long palpebral fissure, Low hanging columella, Low-set ears, Macrocephaly, Microcephaly, Moderately reduced visual acuity, Motor delay, Motor stereotypy, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Plagiocephaly, Polymicrogyria, Poor speech, Prominent nasal bridge, Recurrent infections, Recurrent otitis media, Recurrent pneumonia, Scoliosis, Seizure, Sensorineural hearing impairment, Short 5th finger, Tracheobronchomalacia, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, obsolete Joint laxity

abnormal extraembryonic endoderm formation, abnormal forelimb morphology, abnormal gastrulation, abnormal germ layer development, abnormal hair cycle, abnormal hair follicle bulge morphology, abnormal hair follicle infundibulum morphology, abnormal hair follicle morphology, abnormal hindbrain development, abnormal hippocampus pyramidal cell layer, abnormal keratinocyte physiology, abnormal mesoderm development, abnormal myocardial fiber morphology, abnormal myocardium layer morphology, abnormal notochordal plate morphology, abnormal platelet activation, abnormal primitive node morphology, abnormal primitive streak formation, abnormal primitive streak morphology, abnormal rostral-caudal axis patterning, abnormal rostral-caudal body axis extension, abnormal sebocyte number, abnormal skin cell number, abnormal skin condition, abnormal telencephalon morphology, absent hair follicle bulb, absent hindlimb, absent mesoderm, absent somites, cardia bifida, cardiac hypertrophy, decreased acute inflammation, decreased anterior commissure size, decreased cell proliferation, decreased embryo size, decreased hippocampal commissure size, decreased lean body mass, decreased survivor rate, embryonic growth arrest, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, embryonic-extraembryonic boundary constriction, endocrine/exocrine gland phenotype, enlarged lymph nodes, enlarged sebaceous gland, immune system phenotype, impaired neutrophil recruitment, impaired somite development, increased NAD(P)H oxidase activity, increased apoptosis, increased circulating alkaline phosphatase level, increased embryonic tissue cell apoptosis, increased left ventricle weight, increased total body fat amount, oxidative stress, podocyte foot process effacement, postnatal lethality, incomplete penetrance, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, renal/urinary system phenotype, reproductive system phenotype, small hippocampus, thick embryonic epiblast