Cleft palate, Cleft upper lip, Coarctation of aorta, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Delayed cranial suture closure, Delayed puberty, Depressed nasal ridge, Downslanted palpebral fissures, Elevated red cell adenosine deaminase level, Epicanthus, Failure to thrive, Fatigue, Growth delay, High palate, Hypertelorism, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Intellectual disability, Intrauterine growth retardation, Macrocytic anemia, Microcephaly, Micrognathia, Migraine, Myelodysplasia, Narrow chest, Neoplasm, Neutropenia, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of thumb phalanx, Premature birth, Primary congenital glaucoma, Renal hypoplasia, Reticulocytopenia, Retrognathia, Short neck, Short nose, Short stature, Short thumb, Strabismus, Thick lower lip vermilion, Thrombocytopenia, Thrombocytosis, Tricuspid stenosis, Triphalangeal thumb, Ventricular septal defect, Webbed neck

increased ear pigmentation, increased foot pad pigmentation, increased melanocyte number, increased tail pigmentation, prenatal lethality, complete penetrance