Delayed ability to walk, Delayed myelination, Delayed speech and language development, Dolichocephaly, Downslanted palpebral fissures, Epicanthus, Epileptic encephalopathy, Feeding difficulties, Full cheeks, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Kyphosis, Macrocephaly, Microcephaly, Micrognathia, Narrow mouth, Overlapping toe, Periorbital fullness, Pes planus, Prolonged neonatal jaundice, Prominent forehead, Prominent nose, Sandal gap, Seizure, Self-injurious behavior, Short palpebral fissure, Short stature, Skin-picking, Slender finger, Small hand, Strabismus, Tapered finger, Thin upper lip vermilion, Upslanted palpebral fissure, Vomiting

decreased double-negative T cell number, decreased double-positive T cell number, decreased erythrocyte cell number, decreased hematocrit, decreased hematopoietic stem cell number, decreased hemoglobin content, decreased macrophage cell number, decreased pre-B cell number, decreased pro-B cell number, decreased thymocyte number, dilated seminal vesicles, hematopoietic system phenotype, immune system phenotype, increased hematopoietic stem cell number, increased hemoglobin concentration distribution width, increased mortality induced by gamma-irradiation, increased neutrophil cell number, lethality during fetal growth through weaning, incomplete penetrance, low mean erythrocyte cell number, neonatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, reduced female fertility, small lymph nodes, small spleen, small thymus