- Hemiplegia (HP:0002301, a Human Phenotype Ontology term): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: PCS. (PMID:24552284)
- Stroke (HP:0001297, a Human Phenotype Ontology term): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 12/15. (PMID:27444081;PMID:26867732;PMID:24552284)
- Thrombocytosis (HP:0001894, a Human Phenotype Ontology term): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 3/5. (PMID:24552284)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. (PMID:24552284)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/9. (PMID:26867732)
- Lupus anticoagulant (HP:0025343, a Human Phenotype Ontology term): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: PCS. Frequency: 5/14. (PMID:26867732;PMID:24552284)
- Aphasia (HP:0002381, a Human Phenotype Ontology term): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Type I diabetes mellitus (HP:0100651, a Human Phenotype Ontology term): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Portal hypertension (HP:0001409, a Human Phenotype Ontology term): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/5. (PMID:24552284)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Decreased total lymphocyte count (HP:0001888, a Human Phenotype Ontology term): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 6/15. (PMID:27059682)
- Agitation (HP:0000713, a Human Phenotype Ontology term): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: TAS. (OMIM:615688)
- Bone marrow hypocellularity (HP:0005528, a Human Phenotype Ontology term): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Hashimoto thyroiditis (HP:0000872, a Human Phenotype Ontology term): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Arthritis (HP:0001369, a Human Phenotype Ontology term): Inflammation of a joint. Evidence: PCS. (PMID:26867732)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 1/9. (PMID:26867732)
- Elevated erythrocyte sedimentation rate (HP:0003565, a Human Phenotype Ontology term): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/9. (PMID:26867732)
- Reduced circulating adenosine deaminase-2 activity (HP:6000562, a Human Phenotype Ontology term): Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:24552285)
- Erythema nodosum (HP:0012219, a Human Phenotype Ontology term): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: PCS. Frequency: 4/34. (PMID:27444081;PMID:26867732;PMID:24552285)
- Livedo racemosa (HP:0033260, a Human Phenotype Ontology term): Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. Evidence: PCS. Frequency: 11/15. (PMID:27059682)
- Renal artery aneurysm (HP:0033261, a Human Phenotype Ontology term): Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. Evidence: PCS. Frequency: 3/15. (PMID:27059682)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: PCS. Frequency: 3/9. (PMID:26867732)
- Cutis marmorata (HP:0000965, a Human Phenotype Ontology term): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: PCS. Frequency: 13/19. (PMID:26867732;PMID:24552284)
- Ophthalmoplegia (HP:0000602, a Human Phenotype Ontology term): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: PCS. (PMID:24552284)
- Urticarial plaque (HP:0030351, a Human Phenotype Ontology term): A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. Evidence: PCS. Frequency: 3/5. (PMID:24552284)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24552284)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 5/9. (PMID:26867732)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 1/15. (PMID:27059682)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. (PMID:24552285)
- Increased total leukocyte count (HP:0001974, a Human Phenotype Ontology term): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 1/15. (PMID:24552285)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 11/14. (PMID:26867732;PMID:24552284)
- Esophageal varix (HP:0002040, a Human Phenotype Ontology term): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 1/5. (PMID:24552284)
- Recurrent infections (HP:0002719, a Human Phenotype Ontology term): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 3/9. (PMID:26867732)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (PMID:24552284)
- Purpura (HP:0000979, a Human Phenotype Ontology term): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: PCS. Frequency: 9/24. (PMID:24552285)
- Lymphadenopathy (HP:0002716, a Human Phenotype Ontology term): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 4/9. (PMID:26867732)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 13/24. (PMID:24552285)
- Panniculitis (HP:0012490, a Human Phenotype Ontology term): Inflammation of subcutaneous adipose tissue. Evidence: PCS. (PMID:24552285)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. (PMID:26867732)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 5/5. (PMID:24552284)
- Skin ulcer (HP:0200042, a Human Phenotype Ontology term): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: PCS. Frequency: 18/34. (PMID:27059682;PMID:24552285)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 13/14. (PMID:26867732;PMID:24552284)
- Myalgia (HP:0003326, a Human Phenotype Ontology term): Pain in muscle. Evidence: PCS. Frequency: 11/24. (PMID:24552285)
- Vasculitis (HP:0002633, a Human Phenotype Ontology term): Inflammation of blood vessel. Evidence: PCS. Frequency: 7/15. (PMID:27059682;PMID:26867732)
- Decreased circulating immunoglobulin concentration (HP:0004313, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 6/15. (PMID:27059682)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/9. (PMID:26867732)
- Lymphoproliferative disorder (HP:0005523, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/9. (PMID:26867732)
- Decreased total leukocyte count (HP:0001882, a Human Phenotype Ontology term): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 3/6. (PMID:27444081;PMID:24552284)
- Oral ulcer (HP:0000155, a Human Phenotype Ontology term): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Raynaud phenomenon (HP:0030880, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 12/19. (PMID:26867732;PMID:24552285)
- Recurrent sinusitis (HP:0011108, a Human Phenotype Ontology term): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Elevated circulating C-reactive protein concentration (HP:0011227, a Human Phenotype Ontology term): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Aphthous ulcer (HP:0032154, a Human Phenotype Ontology term): Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 5/33. (PMID:26867732;PMID:24552285)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 2/15. (PMID:27059682)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 3/24. (PMID:24552285)
- Recurrent fever (HP:0001954, a Human Phenotype Ontology term): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 4/10. (PMID:27444081;PMID:26867732)
- Stiff skin (HP:0030053, a Human Phenotype Ontology term): An induration (hardening) of the skin. Evidence: PCS. Frequency: 4/9. (PMID:26867732)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: PCS. Frequency: 3/9. (PMID:26867732)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 1/1. (PMID:27444081)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 2/5. (PMID:24552284)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 7/15. (PMID:27059682)
These phenotypes are associated with the disease deficiency of adenosine deaminase 2 (OMIM:615688, an entry in Online Mendelian Inheritance in Man).