Absent speech, Acute myeloid leukemia, Angina pectoris, Anteverted nares, Aplastic anemia, Atrial septal defect, Axial hypotonia, Birth length greater than 97th percentile, Bone marrow hypocellularity, Cerebellar hypoplasia, Cerebral artery stenosis, Cerebral cortical atrophy, Cerebral visual impairment, Cirrhosis, Coarse facial features, Delayed myelination, Depressed nasal bridge, Developmental regression, Downturned corners of mouth, Duplicated collecting system, Dysphagia, Elevated circulating alkaline phosphatase concentration, Elevated hepatic iron concentration, Epileptic encephalopathy, Fatigue, Flexion contracture, Generalized myoclonic seizure, Gingival overgrowth, Gliosis, Global developmental delay, Hearing impairment, Hemoglobinuria, Hemolytic anemia, Hepatomegaly, High palate, Hydrops fetalis, Hypercoagulability, Hyperreflexia, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic anemia, Hypsarrhythmia, Ichthyosis, Increased head circumference, Infantile spasms, Large fontanelles, Large for gestational age, Lower limb spasticity, Macrocephaly, Malar flattening, Microcephaly, Microdontia, Micrognathia, Micropenis, Muscle weakness, Myelodysplasia, Myocardial infarction, Myoclonus, Narrow mouth, Neuronal loss in central nervous system, Olfactory lobe agenesis, Overfolded helix, Overgrowth, Pallor, Pancytopenia, Paroxysmal nocturnal hemoglobinuria, Polyhydramnios, Prominent occiput, Pulmonary arterial hypertension, Pulmonary embolism, Seborrheic dermatitis, Secondary microcephaly, Short neck, Small nail, Spasticity, Thromboembolism, Transient ischemic attack, Triangular mouth, Upper limb spasticity, Upslanted palpebral fissure, Vesicoureteral reflux, Widely spaced teeth, obsolete Central hypotonia

abnormal suckling behavior, abnormal visceral yolk sac morphology, acanthosis, craniofacial phenotype, decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number, decreased embryo size, decreased locomotor activity, failure of sperm-egg fusion, impaired fertilization, impaired skin barrier function, increased B cell derived lymphoma incidence, increased erythrocyte osmotic fragility, increased hemangioma incidence, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance, weakness