Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Glutathione Synthetase Deficiency |
|
Ataxia, Intention tremor, Pigmentary retinopathy, Hemolytic anemia, Neutropenia |
OMIM:266130 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count |
OMIM:618261 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
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 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... |
OMIM:159550 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... |
OMIM:180080 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Gait ataxia, Abnormal proportion of CD4-positive T ... |
ORPHA:217260 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... |
ORPHA:158057 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia, Lethargy |
ORPHA:289916 |
Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancyto... |
ORPHA:158048 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia, Thrombocytopenia, ... |
ORPHA:27 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... |
OMIM:619374 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia, Le... |
ORPHA:79312 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Sneddon Syndrome |
|
Tremor, Lymphopenia |
OMIM:182410 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... |
ORPHA:158061 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Abnormality o... |
ORPHA:3226 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Ataxia-Telangiectasia |
|
Gait disturbance, Tremor, Ataxia, Lymphopenia |
ORPHA:100 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Lethargy, Pancytopenia |
OMIM:243500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... |
OMIM:308240 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell mo... |
ORPHA:760 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absen... |
OMIM:619705 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia |
ORPHA:86843 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Pgm3-Cdg |
|
Cutaneous abscess, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... |
ORPHA:443811 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia |
ORPHA:514 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmu... |
OMIM:613179 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Chediak-Higashi Syndrome |
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Ataxia, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Mac... |
OMIM:214500 |
Ghosal Hematodiaphyseal Dysplasia |
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Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Hermansky-Pudlak Syndrome 2 |
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Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... |
OMIM:608233 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis |
OMIM:617099 |
Ataxia-Telangiectasia |
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Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Intention tremor, Hypoplas... |
OMIM:208900 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
Psoriasis 14, Pustular |
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Neutrophilia, Leukocytosis |
OMIM:614204 |
Autoinflammatory Disease, Systemic, X-Linked |
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Optic neuritis, Hepatosplenomegaly, B lymphocytopenia, Chorioretinitis, Neutropenia |
OMIM:301081 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Staphylococcal Necrotizing Pneumonia |
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Lethargy, Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Icf Syndrome |
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Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Ebola Hemorrhagic Fever |
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Leukopenia, Thrombocytopenia, Lymphopenia, Lethargy |
ORPHA:319218 |
Transcobalamin Ii Deficiency |
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Ataxia, Macrocytic anemia, Pancytopenia, Lethargy, Neutropenia, Reticulocytopenia |
OMIM:275350 |
X-Linked Lymphoproliferative Disease |
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Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... |
OMIM:301078 |
Cryptogenic Organizing Pneumonia |
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Neutrophilia, Leukocytosis |
ORPHA:1302 |
Nephrotic Syndrome, Type 14 |
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Ataxia, Lymphopenia |
OMIM:617575 |
Herpes Simplex Virus Encephalitis |
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Neutrophilia, Leukocytosis |
ORPHA:1930 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Lymphopenia |
ORPHA:391307 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... |
OMIM:301074 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Ataxia, Lymphopenia, Dysmetria, Intention tremor, Head titubation, Optic atrophy, Dystonia |
OMIM:619708 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Liver abscess, Anemia, Brain abscess, Neutrophilia |
ORPHA:54251 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
Immunodeficiency 67 |
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Liver abscess, Transient neutropenia |
OMIM:607676 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Ataxia, Abnormal T cell subset distribution, Intention tremor, Optic nerve hypoplasia, B lymphocy... |
ORPHA:221139 |
Diffuse Cutaneous Mastocytosis |
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Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Lymphopenia, Opisthotonus, T lymphocytopenia, Decreased proportion of CD8-posi... |
ORPHA:508533 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Ataxia, Lymphopenia, Aplastic anemia, Anemia, Thrombocytopenia |
OMIM:127550 |
Adult-Onset Still Disease |
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Neutrophilia, Leukocytosis, Splenomegaly |
ORPHA:829 |
Trichothiodystrophy 3, Photosensitive |
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Lymphopenia, Neutropenia |
OMIM:616395 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Schimke Immunoosseous Dysplasia |
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Lymphopenia, Thrombocytopenia, Pancytopenia, Waddling gait, Neutropenia, Anemia, Abnormal T cell ... |
OMIM:242900 |
Immunodeficiency 23 |
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Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
Wolcott-Rallison Syndrome |
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Difficulty walking, Neutropenia, Lymphocytosis, Iron deficiency anemia |
ORPHA:1667 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Ataxia, Neutropenia, Abnormality of retinal pigmentation, Vacuolat... |
ORPHA:167 |
Primary Intestinal Lymphangiectasia |
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Anemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ eff... |
ORPHA:90362 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Eosinophilia, Lymphopenia |
OMIM:617425 |
Hyper-Igd Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Hepatosplenomegaly, Optic disc pallor |
OMIM:260920 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response |
OMIM:609541 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Broad-based gait, Ataxia, Lymphopenia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Anemia |
OMIM:616541 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Cartilage-Hair Hypoplasia |
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Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Fusariosis |
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Lymphopenia, Abnormality of the spleen, Brain abscess, Abnormal retinal morphology, Neutropenia, ... |
ORPHA:228119 |
Legionnaires Disease |
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Ataxia, Lymphopenia, Splenomegaly |
ORPHA:549 |
Schimke Immuno-Osseous Dysplasia |
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Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Popov-Chang syndrome |
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Lymphopenia |
OMIM:618428 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Cowden Syndrome 1 |
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Angioid streaks of the fundus, Intention tremor, Lymphopenia |
OMIM:158350 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
Avian Influenza |
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Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Sweet Syndrome |
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Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... |
ORPHA:3243 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Ataxia, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Optic atrophy, T... |
OMIM:615688 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Pediatric Systemic Lupus Erythematosus |
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Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:93552 |
Whim Syndrome |
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Limb ataxia, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
Sandhoff Disease |
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Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula, Ataxia |
OMIM:268800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Abscess, Neutrophilia, Splenomegaly |
OMIM:612852 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
ORPHA:1572 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia |
OMIM:607944 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Stiff Person Spectrum Disorder |
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Difficulty walking, Exaggerated startle response, Falls |
ORPHA:3198 |
Lujo Hemorrhagic Fever |
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Lymphopenia, Resting tremor, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:319213 |
Noonan Syndrome 14 |
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Lymphopenia |
OMIM:619745 |
Leukocyte Adhesion Deficiency Type Ii |
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Ataxia, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia, Impaired tandem gait |
ORPHA:99843 |
Familial Mediterranean Fever |
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Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:249100 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Tay-Sachs Disease |
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Inability to walk, Laryngeal dystonia, Dysmetria, Cherry red spot of the macula, Exaggerated star... |
ORPHA:845 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... |
ORPHA:906 |
Kikuchi-Fujimoto Disease |
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Ataxia, Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:50918 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Ataxia, Exaggerated startle response |
OMIM:618598 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Japanese Encephalitis |
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Neutrophilia, Opisthotonus, Pill-rolling tremor, Tremor, Choreoathetosis, Dystonia |
ORPHA:79139 |
Tay-Sachs Disease |
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Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... |
OMIM:619381 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Broad-based gait, Dystonia, Ataxia, Exaggerated startle response |
ORPHA:438216 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:79255 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Retinal detachment, Retinal dysplasia, Exaggerated startle response |
OMIM:253800 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia |
OMIM:620005 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... |
ORPHA:3260 |
Immunodeficiency 87 And Autoimmunity |
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Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... |
OMIM:619573 |
Syndromic Diarrhea |
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Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis |
ORPHA:84064 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... |
ORPHA:99826 |
Primary Sjögren Syndrome |
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Optic neuritis, Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive ... |
ORPHA:289390 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Secondary Intestinal Lymphangiectasia |
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Lymphopenia |
ORPHA:90363 |
Cushing Disease |
|
Optic nerve compression, Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Dystonia, Exaggerated startle response |
ORPHA:521426 |
Crimean-Congo Hemorrhagic Fever |
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Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Retinal hemorrhage, Pancytopenia, Thrombocy... |
ORPHA:99827 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Sarcoidosis |
|
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count |
ORPHA:797 |
Yellow Fever |
|
Thrombocytopenia, Neutrophilia, Leukocytosis |
ORPHA:99829 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Inability to walk, Exaggerated startle response, Optic disc pallor, Anemia, Dys... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |