Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Refractory Anemia |
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Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... |
ORPHA:98826 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Tricuspid regurgitation, B lymphocytopenia, Decreased proportion ... |
OMIM:619705 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia, Neutropenia |
OMIM:616949 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cardiomyopathy, Increased serum iron, ... |
OMIM:604250 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Reduced C-reactive protein level, Decreased proportion of class-switched memor... |
OMIM:618944 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased proportion autorea... |
OMIM:615559 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Restrictive cardiomyopathy, Hypoplasia of the thymu... |
OMIM:619313 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... |
ORPHA:91547 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... |
OMIM:619374 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly |
OMIM:619126 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency 64 |
|
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Increased CD4:CD8 ratio... |
OMIM:618048 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytope... |
ORPHA:88 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Tachycardia, Hypertension, Anemia |
OMIM:184850 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... |
OMIM:301078 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619375 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, Abnormal neutro... |
ORPHA:3226 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Vasculitis, In... |
OMIM:617099 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... |
ORPHA:54251 |
Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Hy... |
ORPHA:36238 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Hypotension, Athetos... |
OMIM:608643 |
Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... |
ORPHA:508542 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Cerebral hemorrhage, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Pulmonary hemorrhage, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte co... |
ORPHA:79124 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Sweet Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Sterile absces... |
ORPHA:3243 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... |
OMIM:606367 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... |
OMIM:301074 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... |
OMIM:614700 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Pancytopenia,... |
ORPHA:99827 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly |
OMIM:612852 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic ane... |
OMIM:616084 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatinine concentration, Pericarditis, Reticulocytosis, Elevated circulatin... |
ORPHA:99826 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Sandhoff Disease |
|
Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Familial Mediterranean Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Elevated circu... |
OMIM:249100 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ex... |
OMIM:253800 |
Yellow Fever |
|
Supraventricular arrhythmia, Neutrophilia, Hyperbilirubinemia, Leukocytosis, Hematemesis, Elevate... |
ORPHA:99829 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Tremor, Dy... |
ORPHA:845 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Transient ischemic attack, Neutrophilia, Leukocytosis, Splenomegaly,... |
ORPHA:3260 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Intention tremor, B lymphocytopenia, Decreased proportion of... |
ORPHA:221139 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Alg12-Cdg |
|
B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Thrombocytopenia |
ORPHA:79324 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia |
OMIM:300755 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Vas... |
OMIM:619381 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:260920 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Pulmonic stenosis, Decreased serum iron, Anemia, Dystonia |
ORPHA:438213 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |