Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypotonia, Joint hypermobility, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Lymphedema, Macrotia, Mitral regurgitation, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Ptosis, Short neck, Short stature, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance, obsolete Joint laxity

abnormal lipid homeostasis, abnormal lymph node cell ratio, abnormal mammary fat pad morphology, abnormal myeloblast morphology/development, abnormal splenic cell ratio, abnormal thymus cell ratio, abnormal thymus morphology, abnormal thymus size, darkened coat color, decreased brown adipose tissue amount, decreased circulating free fatty acids level, decreased liver triglyceride level, decreased respiratory quotient, decreased single-positive T cell number, decreased susceptibility to diet-induced obesity, decreased white adipose tissue amount, dilated oviduct, dilated uterus, enlarged lymph nodes, growth/size/body region phenotype, homeostasis/metabolism phenotype, improved glucose tolerance, increased body temperature, increased ear pigmentation, increased hematopoietic stem cell number, increased insulin sensitivity, increased lean body mass, increased mitochondrial size, increased muscle cell glucose uptake, increased oxygen consumption, increased spleen red pulp amount, increased susceptibility to diet-induced obesity, increased tail pigmentation, lethality throughout fetal growth and development, incomplete penetrance, myeloid hyperplasia, neonatal lethality, incomplete penetrance, postnatal lethality, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, skeleton phenotype, spleen hyperplasia