Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Reduced eye contact, Seizure, Short chin, Short nose, Short philtrum, Upslanted palpebral fissure, Ventriculomegaly

abnormal mandibular angle morphology, abnormal melanocyte differentiation, abnormal melanosome morphology, abnormal neurocranium morphology, abnormal pharyngeal arch artery morphology, abnormal sinoatrial node morphology, abnormal sinus venosus morphology, abnormal skeletal muscle fiber type ratio, abnormal vascular development, abnormal vascular endothelial cell development, abnormal vitelline vasculature morphology, absent tympanic ring, cardiac hypertrophy, decreased cardiac muscle contractility, decreased germinal center B cell number, decreased melanocyte number, decreased ventricle muscle contractility, delayed bone ossification, dilated distal convoluted tubule, dilated dorsal aorta, dilated heart left ventricle, dilated heart ventricle, dilated proximal convoluted tubule, dilated renal tubules, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enhanced exercise endurance, failure of endochondral bone ossification, failure of heart looping, failure of sternum ossification, incomplete somite formation, increased heart ventricle size, increased kidney cell proliferation, mandible hypoplasia, mandibular coronoid process hypoplasia, Meckel's cartilage hypoplasia, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, complete penetrance, premature endochondral bone ossification, prenatal lethality, short mandible, temporal bone hypoplasia, thin ventricular wall, trabecula carnea hypoplasia, ventricular hypoplasia