Downslanted palpebral fissures, Drooling, Facial palsy, Generalized non-motor (absence) seizure, Global developmental delay, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Long palpebral fissure, Long philtrum, Macrocephaly, Meckel diverticulum, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Obesity, Periorbital fullness, Pes planus, Poor speech, Pyloric stenosis, Seizure, Shortening of all distal phalanges of the fingers, Small for gestational age, Thick lower lip vermilion, Thin upper lip vermilion, Urinary incontinence, Widened subarachnoid space

abnormal hippocampus CA3 region morphology, abnormal kidney development, abnormal kidney morphology, abnormal lipid homeostasis, abnormal myocardial fiber morphology, abnormal piriform cortex morphology, abnormal renal/urinary system morphology, abnormal respiratory quotient, abnormal response to cardiac infarction, abnormal response/metabolism to endogenous compounds, abnormal systemic arterial blood pressure, abnormal triglyceride level, abnormal ureter development, abnormal vascular smooth muscle morphology, abnormal vasculogenesis, abnormal vasoconstriction, cardiac fibrosis, decreased angiogenesis, decreased circulating alanine transaminase level, decreased exploration in new environment, decreased heart left ventricle weight, decreased heart weight, decreased incidence of tumors by chemical induction, decreased kidney apoptosis, decreased kidney weight, decreased locomotor activity, decreased pancreas weight, decreased renal plasma flow rate, decreased response of heart to induced stress, decreased startle reflex, decreased susceptibility to diet-induced obesity, decreased susceptibility to weight gain, decreased white fat cell size, dilated heart left ventricle, dilated ureter, double ureter, hypoalgesia, increased adrenaline level, increased angiogenesis, increased bone trabecula number, increased bone volume, increased energy expenditure, increased fear-related response, increased fluid intake, increased insulin sensitivity, increased mean systemic arterial blood pressure, increased noradrenaline level, increased physiological sensitivity to xenobiotic, increased renal vascular resistance, increased sensitivity to induced morbidity/mortality, increased susceptibility to injury, increased systemic arterial blood pressure, increased systemic arterial diastolic blood pressure, increased systemic arterial systolic blood pressure, increased trabecular bone connectivity density, increased trabecular bone thickness, increased vasoconstriction, increased white fat cell number, large ureter, pancreatic acinar cell atrophy, thin interventricular septum, thin ventricular wall, ureteropelvic junction atresia, ureteropelvic junction stenosis, vascular smooth muscle hypertrophy