- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Thymoma (HP:0100522): A tumor originating from the epithelial cells of the thymus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Anti-Lrp4 antibody positivity (HP:5000046): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Pure red cell aplasia (HP:0012410): A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:589)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:589)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Abnormal thymus morphology (HP:0000777): Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Bulbar palsy (HP:0001283): Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Thymus hyperplasia (HP:0010516): Enlargement of the thymus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Single fiber EMG abnormality (HP:0030006): Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Fatigable weakness of skeletal muscles (HP:0030197): A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-muscle-specific tyrosine kinase antibody (HP:0030210): The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-titin antibody positivity (HP:5000038): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-ryanodine receptor antibody (HP:5000047): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-Kv1.4 antibody (HP:5000048): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Anti-DCC netrin 1 receptor antibody positivity (HP:6000881): The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:589)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Hyperacusis (HP:0010780): Over-sensitivity to certain frequency ranges of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
- Tongue atrophy (HP:0012473): Wasting of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:589)
These phenotypes are associated with the disease Myasthenia gravis (ORPHA:589).