Abnormal rib morphology, Abnormal sternum morphology, Abnormality iris morphology, Abnormality of connective tissue, Abnormality of epiphysis morphology, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the voice, Adenomatous colonic polyposis, Amblyopia, Anemia, Anemic pallor, Anorexia, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Aortic root aneurysm, Aortic valve stenosis, Arachnodactyly, Arteriovenous malformation, Ascending aortic dissection, Ataxia, Atrial septal defect, Autism, Back pain, Behavioral abnormality, Bicuspid aortic valve, Bifid uvula, Birth length less than 3rd percentile, Blepharophimosis, Brachydactyly, Breast carcinoma, Broad ribs, Bruising susceptibility, Camptodactyly, Cardiomegaly, Carotid artery dilatation, Cataract, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral hemorrhage, Chest pain, Cholecystitis, Cholelithiasis, Chronic fatigue, Cirrhosis, Cleft lip, Cleft palate, Clinodactyly, Clubbing, Coarctation of aorta, Colon cancer, Cone-shaped epiphysis, Congestive heart failure, Conjunctival telangiectasia, Coronary artery atherosclerosis, Craniofacial hyperostosis, Cryptorchidism, Cutis marmorata, Deeply set eye, Descending aortic dissection, Descending thoracic aorta aneurysm, Diabetes mellitus, Diarrhea, Dilatation of the cerebral artery, Duodenal adenocarcinoma, Duodenal polyposis, Dural ectasia, EMG abnormality, Eczematoid dermatitis, Edema, Elevated circulating hepatic transaminase concentration, Enlarged vertebral pedicles, Epispadias, Epistaxis, Esophageal varix, Exertional dyspnea, Exocrine pancreatic insufficiency, External genital hypoplasia, Extrahepatic cholestasis, Failure to thrive, Femoral hernia, Fine hair, Functional intestinal obstruction, Gastrointestinal carcinoma, Gastrointestinal hemorrhage, Generalized muscle hypertrophy, Gingival cleft, Global developmental delay, Growth delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, Hematuria, Hemoptysis, Hepatic arteriovenous malformation, Hepatic failure, Hepatosplenomegaly, High hypermetropia, High, narrow palate, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypogonadism, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Hypovolemia, Increased level of L-fucose in urine, Intellectual disability, Intermittent diarrhea, Intestinal polyposis, Intestinal pseudo-obstruction, Intrauterine growth retardation, Intussusception, Ischemic stroke, Jaundice, Joint stiffness, Juvenile gastrointestinal polyposis, Large iliac wing, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Lymphadenopathy, Macrocephaly, Malar flattening, Mandibular prognathia, Melanoma, Microcephaly, Microcytic anemia, Microphthalmia, Microtia, Midface retrusion, Migraine, Mitral regurgitation, Mitral valve prolapse, Mucoid extracellular matrix accumulation, Mucosal telangiectasiae, Multiple gastric polyps, Narrow mouth, Narrow palpebral fissure, Nausea and vomiting, Neoplasm of the liver, Neoplasm of the pancreas, Neoplasm of the stomach, Nephrolithiasis, Obesity, Ovarian carcinoma, Overlapping toe, Pancreatic adenocarcinoma, Paroxysmal dyspnea, Patent ductus arteriosus, Pericardial effusion, Peripheral arterial stenosis, Peripheral arteriovenous fistula, Peritoneal abscess, Pes planus, Platyspondyly, Pneumothorax, Poor appetite, Portal hypertension, Precocious puberty, Prenatal maternal abnormality, Prominent nasal bridge, Ptosis, Pulmonary arterial hypertension, Pulmonary arteriovenous malformation, Pulmonary embolism, Radial deviation of finger, Rectal polyposis, Rectal prolapse, Respiratory insufficiency, Retinal telangiectasia, Retrognathia, Scoliosis, Seizure, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Small for gestational age, Small intestinal polyposis, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Stroke, Subarachnoid hemorrhage, Submucous cleft hard palate, Tall stature, Telangiectasia, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Transient ischemic attack, Unilateral cleft lip, Venous thrombosis, Ventricular septal defect, Vertebral fusion, Visceral angiomatosis, Weight loss

abnormal embryonic hematopoiesis, abnormal embryonic tissue morphology, abnormal embryonic-extraembryonic boundary morphology, abnormal endoderm development, abnormal extraembryonic tissue morphology, abnormal granulosa cell morphology, abnormal hair follicle morphology, abnormal hair follicle regression, abnormal heart ventricle outflow tract morphology, abnormal hindbrain development, abnormal hypodermis morphology, abnormal keratinocyte morphology, abnormal keratinocyte physiology, abnormal kidney development, abnormal long bone diaphysis morphology, abnormal male germ cell apoptosis, abnormal male meiosis, abnormal mesoderm development, abnormal osteoblast physiology, abnormal osteocyte morphology, abnormal ovarian follicle morphology, abnormal ovarian folliculogenesis, abnormal proximal-distal axis patterning, abnormal renal glomerulus morphology, abnormal rhombomere morphology, abnormal rostral-caudal axis patterning, abnormal skin appearance, abnormal stomach glandular epithelium morphology, abnormal tertiary ovarian follicle morphology, abnormal thymus physiology, abnormal trabecula carnea morphology, abnormal visceral endoderm morphology, abnormal vitelline vasculature morphology, absent anterior visceral endoderm, absent atrioventricular cushions, absent cumulus expansion, absent egg cylinders, absent foregut, absent hindgut, absent mesoderm, absent primordial germ cells, arrest of spermatogenesis, colon polyps, decreased Purkinje cell number, decreased body size, decreased cell proliferation, decreased diameter of tibia, decreased embryo size, decreased embryonic epiblast cell proliferation, decreased inner cell mass proliferation, decreased kidney collecting duct number, decreased litter size, decreased male germ cell number, decreased mature ovarian follicle number, decreased oocyte number, decreased osteoclast cell number, decreased ovulation rate, decreased testis weight, delayed bone ossification, digestive/alimentary phenotype, disorganized extraembryonic tissue, disorganized stomach mucosa, embryonic growth arrest, embryonic growth retardation, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality between implantation and somite formation, incomplete penetrance, embryonic lethality between somite formation and embryo turning, incomplete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, enlarged hair follicles, enlarged sebaceous gland, failure of primitive streak formation, failure to gastrulate, fused somites, gastric polyps, hair follicle degeneration, homeostasis/metabolism phenotype, increased Reichert's membrane thickness, increased circulating progesterone level, increased compact bone thickness, increased intestinal adenoma incidence, increased keratinocyte proliferation, increased lung tumor incidence, increased skin papilloma incidence, increased skin tumor incidence, increased stomach tumor incidence, increased tumor incidence, increased vertical activity, no abnormal phenotype detected, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, renal/urinary system phenotype, rib fractures, rostral body truncation, seminiferous tubule degeneration, small ectoplacental cone, small incisors, small kidney, small seminiferous tubules, small thoracic cavity, small thymus, stomach epithelial hyperplasia, thick epidermis stratum basale, thick hair follicle outer root sheath, thick skin, thin ventricle myocardium compact layer