Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Inability to walk, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Progressive microcephaly, Seizure, Short stature, Sloping forehead, Spastic gait, Spastic tetraparesis, Talipes equinovarus, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux

abnormal vascular endothelial cell physiology, abnormal vesicle-mediated transport, cardiovascular system phenotype, decreased body length, decreased circulating alanine transaminase level, decreased circulating alkaline phosphatase level, decreased lean body mass, decreased susceptibility to diet-induced obesity, decreased susceptibility to hepatic steatosis, decreased triglyceride level, decreased unsaturated fatty acids level, decreased vertical activity, decreased white fat cell size, disorganized photoreceptor outer segment, disorganized retina outer nuclear layer, enlarged epididymis, homeostasis/metabolism phenotype, increased energy expenditure, increased fatty acid oxidation, increased respiratory quotient, increased unsaturated fatty acids level, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, retina gliosis, retina outer nuclear layer degeneration, short photoreceptor outer segment, vision/eye phenotype