Aniridia, Arachnoid hemangiomatosis, Ataxia, Autism, Bone cyst, Brachydactyly, Breast carcinoma, Cataract, Cavernous hemangioma, Cellular immunodeficiency, Cerebral hemorrhage, Chemodectoma, Chest pain, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congestive heart failure, Conjunctival hamartoma, Constipation, Cranial nerve compression, Cranial nerve paralysis, Dysphagia, Dysphonia, Elevated calcitonin, Elevated circulating catecholamine level, Elevated urinary dopamine, Elevated urinary epinephrine, Elevated urinary norepinephrine, Endometrial carcinoma, Enlarged polycystic ovaries, Episodic abdominal pain, Episodic hyperhidrosis, Episodic paroxysmal anxiety, Esophageal neoplasm, Extraadrenal pheochromocytoma, Failure to thrive, Fatigue, Fibroma, Flushing, Follicular thyroid carcinoma, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomerular sclerosis, Glomus jugular tumor, Goiter, Gynecomastia, Hamartomatous polyposis, Hearing impairment, Hematuria, High palate, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypopigmented skin patches, Increased intracranial pressure, Intellectual disability, Intestinal obstruction, Irregular hyperpigmentation, Kyphosis, Large hands, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Melanoma, Meningioma, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Myopia, Nausea, Nausea and vomiting, Neoplasm, Neoplasm of the central nervous system, Neoplasm of the colon, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the stomach, Neoplasm of the thyroid gland, Neurofibroma, Pallor, Palmoplantar keratoderma, Palpitations, Panic attack, Papilloma, Papule, Paraganglioma, Paraganglioma of head and neck, Paroxysmal vertigo, Pectus excavatum, Positive regitine blocking test, Proteinuria, Pulsatile tinnitus, Recurrent paroxysmal headache, Renal cell carcinoma, Retinal capillary hemangioma, Sarcoma, Scoliosis, Seizure, Short stature, Sinus tachycardia, Skin rash, Subcutaneous nodule, Tachycardia, Tinnitus, Tremor, Urticaria, Vocal cord paralysis, Weight loss

increased mean corpuscular hemoglobin, premature death, preweaning lethality, complete penetrance