Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Eosinophilia, Facial hemangioma, Failure to thrive, Feeding difficulties, Flexion contracture, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Hearing impairment, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypertrichosis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypotonia, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Joint dislocation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mastocytosis, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Non-Hodgkin lymphoma, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizure, Short foot, Short stature, Short thorax, Short toe, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Talipes equinovarus, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge

abnormal megakaryocyte morphology, abnormal myelopoiesis, abnormal spleen white pulp morphology, abnormal thymus morphology, decreased CD4-positive, alpha beta T cell number, decreased body size, decreased bone marrow cell number, decreased circulating aspartate transaminase level, decreased circulating free fatty acids level, decreased circulating glucose level, decreased erythrocyte cell number, decreased hematopoietic stem cell number, decreased hemoglobin content, decreased lumbar vertebrae number, decreased mature B cell number, decreased mean corpuscular hemoglobin, decreased megakaryocyte-erythroid progenitor cell number, decreased pre-B cell number, decreased spleen red pulp amount, decreased spleen weight, decreased splenocyte number, eye opacity, impaired hematopoiesis, increased acute myeloid leukemia incidence, increased apoptosis, increased bone marrow cell number, increased cell proliferation, increased circulating alkaline phosphatase level, increased circulating iron level, increased double-negative T cell number, increased granulocyte monocyte progenitor cell number, increased hematopoietic stem cell number, increased malignant tumor incidence, increased mean corpuscular hemoglobin concentration, increased myeloid cell number, increased myeloid sarcoma incidence, increased neutrophil cell number, increased nucleated erythrocyte cell number, increased number of Howell-Jolly bodies, increased sacral vertebrae number, increased single-positive T cell number, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, lethality, complete penetrance, mandible hypoplasia, myeloid hyperplasia, neonatal lethality, incomplete penetrance, opacity of vitreous body, polychromatophilia, postnatal lethality, incomplete penetrance, premature death, small spleen, spleen atrophy, spleen hyperplasia, vertebral transformation