Global developmental delay, Hirsutism, Hypermetropia, Hypertelorism, Hypodontia, Inflammatory abnormality of the skin, Intellectual disability, Long philtrum, Lymphopenia, Microdontia, Micrognathia, Myopathic facies, Myopia, Narrow mouth, Natal tooth, Oligodontia, Posteriorly rotated ears, Prominent nose, Pulmonary artery stenosis, Recurrent infections, Seizure, Severe combined immunodeficiency, Short palpebral fissure, Short philtrum, Spastic tetraplegia, Spasticity, Thin eyebrow, Thin upper lip vermilion, Umbilical hernia, Unsteady gait, Upslanted palpebral fissure, Wormian bones

abnormal epidermis stratum corneum morphology, abnormal epidermis stratum granulosum morphology, abnormal fasting circulating glucose level, abnormal head size, abnormal odontoblast morphology, abnormal outer dental epithelium morphology, abnormal outer ear morphology, abnormal positive T cell selection, abnormal stellate reticulum morphology, abnormal suckling behavior, abnormal thymocyte activation, abnormal thymus cortex morphology, abnormal thymus medulla morphology, abnormal tooth development, absent T cells, absent gastric milk in neonates, absent thymus corticomedullary boundary, decreased CD4-positive, alpha beta T cell number, decreased birth body size, decreased birth weight, decreased double-negative T cell number, decreased double-positive T cell number, decreased metastatic potential, decreased thymocyte number, enlarged mesenteric lymph nodes, eyelids open at birth, immune system phenotype, impaired skin barrier function, increased CD8-positive, alpha-beta T cell number, increased NK cell number, increased bone mineral content, increased dendritic cell number, increased double-negative T cell number, increased fasting circulating glucose level, increased gamma-delta T cell number, increased lean body mass, increased lymphoma incidence, increased spleen weight, increased thymocyte apoptosis, increased vertical activity, lethality at weaning, complete penetrance, long incisors, neonatal lethality, complete penetrance, preweaning lethality, complete penetrance, short basicranium, short maxilla, small incisors, small molars, spleen hyperplasia, thin epidermis