Generalized non-motor (absence) seizure, Intellectual disability, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus, Sensory axonal neuropathy, Tremor

abnormal hair follicle morphology, abnormal hair follicle orientation, abnormal innervation, abnormal kidney collecting duct morphology, abnormal kidney morphology, abnormal mitotic spindle morphology, abnormal myocardial fiber morphology, abnormal nervous system tract morphology, abnormal phalanx morphology, abnormal proximal convoluted tubule morphology, abnormal renal tubule morphology, abnormal seizure response to electrical stimulation, abnormal ureteric bud morphology, abnormal vertebrae development, absent mesoderm, decreased body length, decreased body size, decreased mitotic index, delayed endochondral bone ossification, delayed neural tube closure, dilated renal tubules, double outlet right ventricle, ventricular defect committed to aorta, embryonic growth arrest, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enlarged lateral ventricles, eyelids open at birth, failure of primitive streak formation, flattened snout, fused lower incisors, increased diameter of long bones, increased embryonic tissue cell apoptosis, kinked tail, misaligned sternebrae, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance, short cochlear hair cell stereocilia, short mandible, short premaxilla, short tail, short tongue, wavy tail