Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Adrenal pheochromocytoma, Adrenocortical carcinoma, Agitation, Anteverted nares, Anxiety, Ascites, Autism, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bronchogenic cyst, Bruising susceptibility, Cafe-au-lait spot, Calvarial hyperostosis, Cardiac myxoma, Cardiomegaly, Cerebral venous thrombosis, Chest pain, Cholestasis, Colon cancer, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depression, Diabetes mellitus, Dilatation of the cerebral artery, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating growth hormone concentration, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fair hair, Fatigue, Fever, Fibroadenoma of the breast, Freckling, Global developmental delay, Hearing impairment, Heart murmur, Hepatocellular adenoma, Hirsutism, Histiocytoma, Hydrocephalus, Hyperactivity, Hypermelanotic macule, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertension associated with pheochromocytoma, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Jaundice, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Multiple lentigines, Muscle weakness, Myopathy, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Neoplasm of the pancreas, Nevus, Obesity, Open bite, Open mouth, Optic atrophy, Osteochondroma, Osteopenia, Osteoporosis, Ovarian cyst, Paradoxical increased cortisol secretion on dexamethasone suppression test, Parathyroid adenoma, Pedal edema, Peripheral neuropathy, Peripheral schwannoma, Pheochromocytoma, Pigmentation of the sclera, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Polycystic ovaries, Primary hypercortisolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Recurrent paroxysmal headache, Red hair, Round face, Schwannoma, Scoliosis, Sertoli cell neoplasm, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Stomach cancer, Strabismus, Striae distensae, Thin skin, Thromboembolism, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Tricuspid regurgitation, Truncal obesity, Uterine neoplasm, Vascular dilatation, Vertebral hypoplasia, Vestibular Schwannoma, Wide nasal bridge, obsolete Abnormality of the metacarpal bones, obsolete Mood changes

abnormal embryo size, abnormal embryonic tissue morphology, abnormal foregut morphology, abnormal primitive streak morphology, abnormal small intestinal transit time, abnormal somite shape, absent heart tube, adrenal cortical hyperplasia, craniofacial phenotype, decreased axial mesoderm size, decreased embryo size, decreased heart rate variability, decreased paraxial mesoderm size, decreased physiological sensitivity to xenobiotic, decreased somite size, decreased thyroid-stimulating hormone level, decreased white adipose tissue amount, digestive/alimentary phenotype, distended duodenum, dry eyes, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enhanced wound healing, excessive folding of visceral yolk sac, failure of initiation of embryo turning, increased Schwannoma incidence, increased adrenal gland apoptosis, increased circulating growth hormone level, increased facial tumor incidence, increased fibrosarcoma incidence, increased hepatocellular carcinoma incidence, increased pituitary gland tumor incidence, increased skeletal tumor incidence, increased thyroid carcinoma incidence, increased thyroid tumor incidence, increased thyroxine level, increased tumor incidence, muscular atrophy, neonatal lethality, complete penetrance, no abnormal phenotype detected, pigmentation phenotype, premature death, reduced male fertility, retention of the adrenal gland x-zone