Abnormality of the uterus, Adenoma sebaceum, Adrenal pheochromocytoma, Aniridia, Arachnoid hemangiomatosis, Ataxia, Autism, Babinski sign, Blindness, Bone cyst, Brachydactyly, Breast carcinoma, Cafe-au-lait spot, Cataract, Cavernous hemangioma, Cellular immunodeficiency, Cerebral hemorrhage, Chemodectoma, Chest pain, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congestive heart failure, Conjunctival hamartoma, Cranial nerve compression, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Dementia, Developmental cataract, Developmental regression, Dilated cardiomyopathy, Distal amyotrophy, Dysphagia, Dysphonia, Dystonia, Easy fatigability, 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 hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Expressive language delay, External ophthalmoplegia, Extraadrenal pheochromocytoma, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fibroma, Flexion contracture, Flushing, Follicular thyroid carcinoma, Frequent falls, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Generalized hypotonia, Generalized muscle weakness, Generalized myoclonic seizure, Global developmental delay, Glomerular sclerosis, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Gynecomastia, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hematuria, High palate, Hoarse voice, Hyperactive deep tendon reflexes, Hyperactive patellar reflex, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hyperreflexia in upper limbs, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Increased circulating lactate concentration, Increased intracranial pressure, Increased intramyocellular lipid droplets, Intellectual disability, Intestinal obstruction, Intrauterine growth retardation, Irritability, Knee flexion contracture, Kyphosis, Left ventricular hypertrophy, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of ability to walk, Loss of voice, Lower limb hypertonia, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Melanoma, Meningioma, Mild microcephaly, Moderate global developmental delay, Motor delay, Motor deterioration, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Muscle weakness, Myoclonus, Myopia, Nausea, Neonatal hypotonia, Neoplasm, Neoplasm of the central nervous system, Neoplasm of the gastrointestinal tract, Neoplasm of the skin, Neoplasm of the thyroid gland, Noncompaction cardiomyopathy, Nystagmus, Ophthalmoplegia, Optic atrophy, Pallor, Palmoplantar keratoderma, Palpitations, Panic attack, Papilloma, Papule, Paraganglioma, Paraganglioma of head and neck, Paroxysmal vertigo, Pectus excavatum, Pheochromocytoma, Pigmentary retinopathy, Poor head control, Positive regitine blocking test, Progressive leukoencephalopathy, Progressive psychomotor deterioration, Proportionate short stature, Proteinuria, Proximal muscle weakness, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Reduced visual acuity, Renal artery stenosis, Renal cell carcinoma, Retinal capillary hemangioma, Scoliosis, Seizure, Severe short stature, Short stature, Sinus tachycardia, Skeletal muscle atrophy, Skeletal myopathy, Spastic paraparesis, Spastic tetraparesis, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Tremor, Vagal paraganglioma, Vesicoureteral reflux, Visual impairment, Vocal cord paralysis, Weight loss, obsolete Segmental myoclonic seizures

decreased neuron number, embryonic growth arrest, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality, complete penetrance, loss of dopaminergic neurons, nervous system phenotype, no abnormal phenotype detected, oxidative stress, premature death