Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the orbital region, Abnormality of the spleen, Abnormality of toe, Abnormality of vision, Adenoma sebaceum, Anteverted nares, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Arachnoid cyst, Arrhythmia, Asymmetric growth, Asymmetry of the thorax, Autoimmune thrombocytopenia, Autoimmunity, Basal cell carcinoma, Behavioral abnormality, Biparietal narrowing, Brachydactyly, Broad forehead, Broad nasal tip, Cafe-au-lait spot, Cavernous hemangioma, Cerebral calcification, Chiari malformation, Chorioretinal coloboma, Choroid plexus papilloma, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse hair, Coloboma, Congenital giant melanocytic nevus, Corneal opacity, Cranial asymmetry, Cranial nerve paralysis, Cryptorchidism, Curly hair, Cutaneous melanoma, Cystic hygroma, Dandy-Walker malformation, Decreased lymphocyte apoptosis, Deep philtrum, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Dysarthria, EEG abnormality, Edema, Enlarged thorax, Epicanthus, Everted lower lip vermilion, Facial asymmetry, Feeding difficulties in infancy, Follicular hyperplasia, Follicular thyroid carcinoma, Frontal bossing, Full cheeks, Generalized hirsutism, Generalized hyperpigmentation, Generalized hypotonia, Genu recurvatum, Global developmental delay, Growth delay, Hemangioma, Hemihypertrophy, Hemimegalencephaly, Hemiparesis, Hemolytic anemia, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, High forehead, High palate, Horseshoe kidney, Hydrocephalus, Hyperkeratosis, Hyperphosphaturia, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypopigmented skin patches, Hypotonia, Ichthyosis, Increased circulating antibody level, Infectious encephalitis, Intellectual disability, Intellectual disability, mild, Intracranial hemorrhage, Iris coloboma, Irregular hyperpigmentation, Juvenile myelomonocytic leukemia, Keratosis pilaris, Kyphoscoliosis, Leukemia, Linear nevus sebaceous, Long eyebrows, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Lymphocytosis, Lymphoma, Lymphoproliferative disorder, Macrocephaly, Melanocytic nevus, Melanoma, Meningioma, Meningocele, Mental deterioration, Micrognathia, Microphthalmia, Midface retrusion, Monocytosis, Motor delay, Muscle weakness, Myopia, Narrow nasal ridge, Neoplasm, Neoplasm of the skin, Neoplasm of the stomach, Neurological speech impairment, Neutropenia, Nevus, Nevus sebaceous, Nevus spilus, Non-medullary thyroid carcinoma, Numerous congenital melanocytic nevi, Numerous nevi, Nystagmus, Open mouth, Ophthalmoplegia, Osteopenia, Overgrowth, Pancytopenia, Pectus carinatum, Pectus excavatum, Periorbital fullness, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Precocious puberty, Prominence of the premaxilla, Prominent forehead, Prominent occiput, Proptosis, Pruritus, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Recurrent fractures, Recurrent infections, Recurrent respiratory infections, Reduced tendon reflexes, Renal cell carcinoma, Renal hypoplasia/aplasia, Rhabdomyosarcoma, Round face, Sarcoma, Scoliosis, Seizure, Sensorineural hearing impairment, Short nose, Short stature, Single umbilical artery, Sparse hair, Splenomegaly, Strabismus, Subcutaneous nodule, Syringomyelia, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thickened skin, Transitional cell carcinoma of the bladder, Triangular face, Uterine leiomyosarcoma, Venous thrombosis, Ventriculomegaly, Vertebral segmentation defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge, obsolete Hypotrichosis, obsolete Joint hyperflexibility

digestive/alimentary phenotype, hematopoietic system phenotype, hyperpigmentation, hyperresponsive to tactile stimuli, increased acute lymphoblastic leukemia incidence, increased circulating glucose level, increased granulocyte number, increased melanoma incidence, increased neutrophil cell number, myeloid hyperplasia, no abnormal phenotype detected, pale liver, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance