Abnormal nervous system morphology, Abnormal penis morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the bladder, Abnormality of the cardiovascular system, Abnormality of the ear, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the orbital region, Abnormality of the respiratory system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alveolar cell carcinoma, Anisometropia, Anorexia, Anteverted nares, Aplasia cutis congenita, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arachnoid cyst, Arrhythmia, Astigmatism, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Atrophic gastritis, Autoimmune thrombocytopenia, Autoimmunity, Back pain, Basal cell carcinoma, Biparietal narrowing, Bladder exstrophy, Blepharophimosis, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral calcification, Cerebral cortical atrophy, Chronic fatigue, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Corneal opacity, Cranial asymmetry, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Dandy-Walker malformation, Decreased lymphocyte apoptosis, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Dystrophic fingernails, EEG abnormality, Elevated circulating hepatic transaminase concentration, Enlarged thorax, Epicanthus, Epidermal nevus, Epispadias, Excessive wrinkled skin, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Eyelid coloboma, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Follicular hyperplasia, Frontal bossing, Full cheeks, Functional abnormality of the gastrointestinal tract, Functional intestinal obstruction, Generalized hyperpigmentation, Genu recurvatum, Genu valgum, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemihypertrophy, Hemimegalencephaly, Hemolytic anemia, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Horseshoe kidney, Hydrocephalus, Hydronephrosis, Hyperactivity, Hyperextensible skin, Hyperkeratosis, Hyperphosphaturia, Hyperpigmentation of the skin, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Hypoplastic nasal bridge, Hypospadias, Hypotonia, Ichthyosis, Increased circulating antibody level, Increased level of L-fucose in urine, Intellectual disability, Intermittent diarrhea, Intestinal pseudo-obstruction, Iris coloboma, Irregular hyperpigmentation, Jaundice, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Leukemia, Limbal dermoid, Linear nevus sebaceous, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lower limb asymmetry, Lymphadenopathy, Lymphedema, Lymphocytosis, Lymphoma, Lymphoproliferative disorder, Macrocephaly, Macrotia, Melanocytic nevus, Melanoma, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Mitral valve prolapse, Monocytosis, Multiple cafe-au-lait spots, Multiple lentigines, Muscle weakness, Myopia, Nausea and vomiting, Neoplasm, Neoplasm of the liver, Neoplasm of the pancreas, Neurological speech impairment, Neutropenia, Nevus, Nevus sebaceous, Nystagmus, Opacification of the corneal stroma, Ophthalmoplegia, Optic atrophy, Osteopenia, Ovarian carcinoma, Overgrowth, Palmoplantar keratoderma, Pancreatic adenocarcinoma, Pancytopenia, Parietal bossing, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Peripheral arteriovenous fistula, Peripheral axonal neuropathy, Peritoneal abscess, Plagiocephaly, Polyhydramnios, Poor appetite, Porencephalic cyst, Posteriorly rotated ears, Precocious puberty, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Recurrent fractures, Recurrent infections, Recurrent respiratory infections, Reduced tendon reflexes, Redundant skin, Sagittal craniosynostosis, Scaphocephaly, Scoliosis, Seizure, Sensorineural hearing impairment, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Splenomegaly, Stomach cancer, Strabismus, Submucous cleft hard palate, Supernumerary nipple, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transient ischemic attack, Transitional cell carcinoma of the bladder, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Wide nasal bridge, obsolete Hypotrichosis, obsolete Joint hyperflexibility

abnormal cell proliferation, abnormal colon goblet cell morphology, abnormal colon morphology, abnormal common lymphocyte progenitor cell morphology, abnormal common myeloid progenitor cell morphology, abnormal cranium morphology, abnormal definitive hematopoiesis, abnormal ear position, abnormal embryonic erythrocyte morphology, abnormal embryonic erythropoiesis, abnormal embryonic neuroepithelium morphology, abnormal erythropoiesis, abnormal fetal cardiomyocyte proliferation, abnormal fibroblast proliferation, abnormal hematopoietic system morphology/development, abnormal hepatobiliary system morphology, abnormal intestinal epithelium morphology, abnormal intestinal goblet cell morphology, abnormal kidney morphology, abnormal large intestine crypts of Lieberkuhn morphology, abnormal lung epithelium morphology, abnormal melanocyte morphology, abnormal myelopoiesis, abnormal myocardial fiber physiology, abnormal pancreatic acinar cell morphology, abnormal pancreatic duct morphology, abnormal peritoneum morphology, abnormal placenta labyrinth morphology, abnormal placental labyrinth vasculature morphology, abnormal prostate gland physiology, abnormal skin sebaceous gland morphology, abnormal systemic arterial blood pressure, abnormal tumor morphology, absent Paneth cells, absent vitelline blood vessels, bronchiolar epithelial hyperplasia, cardiac fibrosis, cellular necrosis, conotruncal ridge hyperplasia, decreased body length, decreased body size, decreased cardiac muscle contractility, decreased cranium length, decreased embryo size, decreased hematocrit, decreased hemoglobin content, decreased lung tumor incidence, decreased mean corpuscular hemoglobin, decreased survivor rate, decreased tumor growth/size, dilated respiratory conducting tube, embryo phenotype, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, enlarged myocardial fiber, enlarged pancreas, enlarged sebaceous gland, epidermal hyperplasia, fetal growth retardation, flattened snout, growth/size/body region phenotype, heart hyperplasia, hematopoietic system phenotype, hyperpigmentation, impaired branching involved in bronchus morphogenesis, impaired branching involved in terminal bronchiole morphogenesis, increased T cell derived lymphoma incidence, increased adenoma incidence, increased apoptosis, increased cardiac muscle contractility, increased cardiac output, increased cell proliferation, increased cholangiocarcinoma incidence, increased circulating erythropoietin level, increased cranium height, increased embryonic neuroepithelium apoptosis, increased embryonic tissue cell apoptosis, increased esophageal papilloma incidence, increased facial tumor incidence, increased fibrosarcoma incidence, increased granulocyte monocyte progenitor cell number, increased granulocyte number, increased hair follicle cell proliferation, increased hematopoietic stem cell number, increased hepatocyte apoptosis, increased liver tumor incidence, increased lung adenoma incidence, increased lung carcinoma incidence, increased lung tumor incidence, increased lung weight, increased lymphoblastic lymphoma incidence, increased lymphoma incidence, increased melanoma incidence, increased mesothelioma incidence, increased metastatic potential, increased mouth tumor incidence, increased myeloid cell number, increased myeloid cell number in bone marrow, increased myocardial fiber number, increased neuron apoptosis, increased neutrophil cell number, increased oral papilloma incidence, increased pancreas weight, increased pancreatic ductal adenocarcinoma incidence, increased pancreatic intraepithelial neoplasia incidence, increased papilloma incidence, increased prostate gland adenocarcinoma incidence, increased prostate intraepithelial neoplasia incidence, increased regulatory T cell number, increased skin papilloma incidence, increased skin tumor incidence, increased spleen red pulp amount, increased splenocyte proliferation, increased systemic arterial diastolic blood pressure, increased systemic arterial systolic blood pressure, increased tumor incidence, increased tumor latency, integument phenotype, lethality throughout fetal growth and development, complete penetrance, liver hypoplasia, liver/biliary system phenotype, lung epithelium hyperplasia, lymphoid hyperplasia, myeloid hyperplasia, nervous system phenotype, no abnormal phenotype detected, pale liver, pale yolk sac, pancreatic acinar-to-ductal metaplasia, pericardial edema, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, polychromatophilia, postnatal lethality, complete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, renal/urinary system phenotype, ruffled hair, sebaceous gland hyperplasia, slow postnatal weight gain, small heart, small liver, spleen vascular congestion, submandibular gland hyperplasia, thick aortic valve, thick pulmonary interalveolar septum, thin myocardium, thin ventricular wall, uterus adenomyosis