Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of metabolism/homeostasis, Abnormality of skin pigmentation, Abnormality of the dentition, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the orbital region, Abnormality of the skin, Abnormality of the spleen, Abnormality of toe, Abnormality of vision, Acanthosis nigricans, Achilles tendon contracture, 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, Arrhythmia, Asymmetric growth, Atrial septal defect, Barrel-shaped chest, Basal cell carcinoma, Biparietal narrowing, Bladder carcinoma, Brachydactyly, Broad forehead, Broad nasal tip, Bronchomalacia, Cavernous hemangioma, Cerebral atrophy, Cerebral calcification, Cerebral cortical atrophy, Chiari type I malformation, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Concave nail, Congenital giant melanocytic nevus, Corneal opacity, Cranial asymmetry, Cryptorchidism, Curly hair, Cutaneous melanoma, Cystic hygroma, Dandy-Walker malformation, Deep palmar crease, Deep philtrum, Deep plantar creases, Deep-set nails, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Dysarthria, EEG abnormality, Enlarged cerebellum, Enlarged thorax, Epicanthus, Everted lower lip vermilion, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Follicular thyroid carcinoma, Fragile nails, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hirsutism, Generalized hyperpigmentation, Genu recurvatum, Global developmental delay, Growth delay, Hemangioma, Hemihypertrophy, Hemimegalencephaly, Hepatomegaly, High forehead, High palate, Hoarse voice, Horseshoe kidney, Hydrocephalus, Hyperextensibility of the finger joints, Hyperkeratosis, Hyperphosphaturia, Hyperpigmentation of the skin, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypoglycemia, Hypogonadotropic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypopigmented skin patches, Hypoplastic toenails, Hypotonia, Ichthyosis, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Keratoconus, Kyphoscoliosis, Lack of skin elasticity, Large earlobe, Large face, Limited elbow movement, Linear nevus sebaceous, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphangiectasis, Lymphedema, Macrocephaly, Macroglossia, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Mitral valve prolapse, Muscle weakness, Narrow nasal ridge, Narrow palate, Neoplasm, Neoplasm of the skin, Neurological speech impairment, Nevus, Nevus sebaceous, Nevus spilus, Non-medullary thyroid carcinoma, Numerous nevi, Nystagmus, Obstructive sleep apnea, Open mouth, Ophthalmoplegia, Osteopenia, Overgrowth, Papilloma, Pectus carinatum, Pectus excavatum, Periorbital fullness, Plagiocephaly, Pneumothorax, Pointed chin, Polyhydramnios, Poor suck, Porencephalic cyst, Posteriorly rotated ears, Precocious puberty, Premature birth, Prominence of the premaxilla, Prominent forehead, Prominent occiput, Proptosis, Pruritus, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Pyloric stenosis, Radioulnar synostosis, Recurrent fractures, Reduced tendon reflexes, Redundant neck skin, Redundant skin, Renal insufficiency, Respiratory insufficiency, Rhabdomyosarcoma, Round face, Sarcoma, Scoliosis, Seizure, Sensorineural hearing impairment, Short neck, Short nose, Short stature, Sparse hair, Strabismus, Subcutaneous nodule, Talipes equinovarus, Telecanthus, Thick lower lip vermilion, Thickened Achilles tendon, Thickened helices, Thickened nuchal skin fold, Thin nail, Tracheomalacia, Transitional cell carcinoma of the bladder, Triangular face, Ulnar deviation of finger, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Vestibular Schwannoma, Webbed neck, Wide anterior fontanel, Wide intermamillary distance, Woolly hair, obsolete Hypotrichosis, obsolete Joint hyperflexibility

abnormal mammary gland development, abnormal stellate reticulum morphology, abnormal stratum intermedium morphology, abnormal suckling behavior, abnormal tooth development, abnormal vibrissa follicle morphology, absent enamel, cardiac fibrosis, cardiovascular system phenotype, decreased incidence of tumors by chemical induction, decreased urine creatinine level, deviated nasal septum, domed cranium, endocrine/exocrine gland phenotype, enlarged aortic valve, enlarged heart atrium, increased astrocytoma incidence, increased circulating angiotensin II level, increased heart ventricle size, increased mammary adenocarcinoma incidence, increased papilloma incidence, increased skin papilloma incidence, increased stomach tumor incidence, increased systemic arterial blood pressure, increased systemic arterial diastolic blood pressure, increased systemic arterial systolic blood pressure, jaw cyst, lethality throughout fetal growth and development, complete penetrance, lymphatic vessel hyperplasia, mammary gland hyperplasia, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, premature death, renal/urinary system phenotype, respiratory system phenotype, short maxilla, short nasal bridge, short premaxilla, short zygomatic bone, trisomy