Abnormality of the face, Abnormality of the lymphatic system, Abnormality of the nervous system, Abnormality of the orbital region, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the upper urinary tract, Abnormality of vision, Aqueductal stenosis, Arterial stenosis, Astrocytoma, Ataxia, Attention deficit hyperactivity disorder, Axillary freckling, Cafe-au-lait spot, Cataract, Chorioretinal coloboma, Chronic myelogenous leukemia, Corneal opacity, Cryptorchidism, Cubitus valgus, Delayed puberty, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Dysphagia, Epicanthus, Freckling, Generalized hyperpigmentation, Genu valgum, Genu varum, Glaucoma, Global developmental delay, Headache, Hearing abnormality, Hearing impairment, Heterochromia iridis, Hydrocephalus, Hypertelorism, Hypertension, Hypertrophic cardiomyopathy, Hypopigmented macule, Hypopigmented skin patches, Hypsarrhythmia, Inguinal freckling, Intellectual disability, Intellectual disability, mild, Joint stiffness, Juvenile myelomonocytic leukemia, Kyphosis, Leukemia, Lisch nodules, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lower limb muscle weakness, Macrocephaly, Macule, Malar flattening, Melanocytic nevus, Memory impairment, Meningioma, Midface retrusion, Multiple cafe-au-lait spots, Multiple lipomas, Muscle weakness, Myopia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the skin, Neuroblastoma, Neurofibromas, Neurofibrosarcoma, Neurological speech impairment, Optic nerve glioma, Overgrowth, Paraparesis, Parathyroid adenoma, Paresthesia, Pectus excavatum, Pectus excavatum of inferior sternum, Pheochromocytoma, Plexiform neurofibroma, Posteriorly rotated ears, Precocious puberty, Prolonged bleeding time, Prominent nasolabial fold, Proptosis, Ptosis, Pulmonic stenosis, Recurrent fractures, Relative macrocephaly, Renal artery stenosis, Rhabdomyosarcoma, Sarcoma, Scoliosis, Secundum atrial septal defect, Seizure, Short neck, Short stature, Skeletal dysplasia, Slender long bone, Specific learning disability, Spina bifida, Spinal cord tumor, Spinal neurofibromas, Subcutaneous nodule, Superior pectus carinatum, Symmetric spinal nerve root neurofibromas, Tall stature, Thick vermilion border, Tibial pseudarthrosis, Urinary tract neoplasm, Visual impairment, Webbed neck

abnormal cerebral cortex morphology, abnormal common myeloid progenitor cell morphology, abnormal definitive hematopoiesis, abnormal dendrite morphology, abnormal discrimination learning, abnormal endochondral bone ossification, abnormal fetal atrioventricular canal morphology, abnormal hair cycle anagen phase, abnormal heart development, abnormal heart shape, abnormal hematopoietic cell number, abnormal hormone level, abnormal learning/memory/conditioning, abnormal metanephros morphology, abnormal microglial cell morphology, abnormal mitral valve cusp morphology, abnormal muscle development, abnormal muscle fiber morphology, abnormal myelopoiesis, abnormal myoblast differentiation, abnormal myocardium layer morphology, abnormal myogenesis, abnormal neural crest cell morphology, abnormal neuron proliferation, abnormal neuronal precursor proliferation, abnormal optic chiasm morphology, abnormal osteoblast cell number, abnormal osteoid morphology, abnormal pituitary gland development, abnormal pituitary gland physiology, abnormal secondary somatosensory cortex morphology, abnormal seminiferous tubule epithelium morphology, abnormal somatic sensory system morphology, abnormal spatial learning, abnormal spermatid morphology, abnormal spermiation, abnormal spinal nerve morphology, abnormal sympathetic ganglion morphology, abnormal voluntary movement, absent spleen germinal center, adrenal medulla hyperplasia, blood vessel congestion, cardiovascular system phenotype, decreased Leydig cell number, decreased body size, decreased circulating alanine transaminase level, decreased circulating aspartate transaminase level, decreased circulating growth hormone level, decreased eye pigmentation, decreased forebrain size, decreased lactate dehydrogenase level, decreased litter size, decreased muscle weight, decreased renal glomerulus number, decreased skeletal muscle fiber number, decreased skeletal muscle mass, delayed hepatic development, delayed kidney development, delayed muscle development, dermatitis, disheveled coat, disorganized myocardium, distended pericardium, embryonic lethality during organogenesis, complete penetrance, enlarged sperm head, focal hepatic necrosis, hindlimb paralysis, hunched posture, hypermyelination, increased adrenal gland tumor incidence, increased atrioventricular cushion size, increased compact bone volume, increased ear pigmentation, increased fibrosarcoma incidence, increased foot pad pigmentation, increased ganglioneuroma incidence, increased gangliosarcoma incidence, increased glioma incidence, increased granulocyte number, increased hepatoma incidence, increased lymphoma incidence, increased mast cell degranulation, increased myoblast proliferation, increased neurofibroma incidence, increased neutrophil cell number, increased oligodendrocyte number, increased optic chiasm size, increased osteoclast cell number, increased osteoid thickness, increased sperm number, increased tail pigmentation, increased tumor incidence, lethality throughout fetal growth and development, complete penetrance, liver hemorrhage, liver hypoplasia, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, pale liver, paravertebral ganglia hyperplasia, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, prevertebral ganglia hyperplasia, preweaning lethality, complete penetrance, reduced male fertility, retina ganglion cell degeneration, seminiferous tubule degeneration, skeletal muscle fibrosis, skeletal muscle hypoplasia, small adenohypophysis, spleen fibrosis, thin adrenal cortex, thin cerebral cortex, thin myocardium, thin myocardium compact layer