Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Isovaleric Acidemia |
|
Coma, Dehydration, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy |
OMIM:243500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Dehydration, Coma, Lethargy |
ORPHA:28 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Reticular Dysgenesis |
|
Dehydration, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia |
ORPHA:33355 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Decreased circulating total IgM, Livedo |
OMIM:615139 |
Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia, Loss of consciousness |
OMIM:607578 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... |
OMIM:619802 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Pedal edema, Edema, Stillbirth |
OMIM:152800 |
Sneddon Syndrome |
|
Lymphopenia, Livedo, Cutis marmorata, Decreased circulating total IgM, Livedo reticularis, Livedo... |
OMIM:182410 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... |
OMIM:616100 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Central Diabetes Insipidus |
|
Excessive daytime somnolence, Dehydration, Lethargy, Polydipsia |
ORPHA:178029 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Death in infancy |
OMIM:251850 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Death in childhood, Bradykinesia, Lethargy |
OMIM:618683 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Dehydration, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:27 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:90362 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph... |
ORPHA:277 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Coma, Splenomegaly, Dehydration, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:79312 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Confusion, Lethargy, Abnormal erythrocyte morphology |
ORPHA:71277 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Death in childhood, Death in adolescence, Decreased circulating antib... |
OMIM:618042 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... |
OMIM:616005 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Gaba-Transaminase Deficiency |
|
Death in childhood, Lethargy |
OMIM:613163 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Familial Cold Urticaria |
|
Dehydration, Urticaria, Erythema, Polydipsia |
ORPHA:47045 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Early Myoclonic Encephalopathy |
|
Dysphagia, Lethargy |
ORPHA:1935 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... |
OMIM:102700 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Neonatal death, Edema |
OMIM:610498 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Glycine Encephalopathy |
|
Death in infancy, Lethargy |
OMIM:605899 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Dehydration, Edema |
OMIM:616069 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Bruising susceptibility, Autoimm... |
ORPHA:1959 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T c... |
OMIM:301045 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Immunodeficiency 61 |
|
Agammaglobulinemia |
OMIM:300310 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... |
OMIM:613101 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Lethargy |
ORPHA:30925 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Coma, Dehydration, Leukopenia, Neutropenia, Thrombocytopenia, Lethargy |
OMIM:251000 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:276556 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Severe Canavan Disease |
|
Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration |
OMIM:618958 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocyto... |
ORPHA:3261 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Neonatal death |
OMIM:300076 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Obesity-Hypoventilation Syndrome |
|
Excessive daytime somnolence, Cyanosis |
OMIM:257500 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia |
ORPHA:158014 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:276575 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Netherton Syndrome |
|
Urticaria, Decreased circulating IgG level, Hypernatremic dehydration, Angioedema, Hypereosinophi... |
OMIM:256500 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Coma, Cyanosis, Confusion, Drowsiness, Hypoxemia, Loss of consciousness |
ORPHA:464453 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:251110 |
Propionic Acidemia |
|
Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:606054 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Dehydration, Neutropenia |
ORPHA:33110 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:276580 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
N-Acetylglutamate Synthase Deficiency |
|
Coma, Lethargy, Confusion |
OMIM:237310 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Hypercalcemia, Infantile, 1 |
|
Dehydration, Lethargy |
OMIM:143880 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:324575 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... |
OMIM:600802 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Netherton Syndrome |
|
Dehydration, Decreased circulating antibody level, Increased circulating IgE level, Urticaria |
ORPHA:634 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Splenomegaly, Cyanosis, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:251100 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
Immunodeficiency 17 |
|
Death in childhood, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B c... |
OMIM:615607 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
Beta-Ketothiolase Deficiency |
|
Coma, Oral aversion, Leukocytosis, Dehydration, Thrombocytosis, Reduced consciousness/confusion, ... |
ORPHA:134 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Crigler-Najjar Syndrome |
|
Jaundice, Lethargy |
ORPHA:205 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Drowsiness, Coma, Lethargy |
ORPHA:276608 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema, Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Immunodeficiency 47 |
|
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron... |
OMIM:300972 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Mogs-Cdg |
|
Decreased circulating IgA level, Pulmonary edema, Decreased circulating IgG level, Decreased circ... |
ORPHA:79330 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Lethargy |
ORPHA:319218 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Dengue Fever |
|
Petechiae, Bruising susceptibility, Leukopenia, Thrombocytopenia, Ascites, Lethargy |
ORPHA:99828 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... |
OMIM:615559 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dysphagia, Lethargy |
OMIM:618226 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:26792 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Death in infancy, Lethargy |
OMIM:614299 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Coma, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG1 level, Chylous ascites, ... |
ORPHA:90363 |
Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:620040 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level, Facial erythema, Hypoxemia, ... |
ORPHA:284227 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy |
OMIM:605711 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis |
OMIM:150260 |
Alpha-Heavy Chain Disease |
|
Anemia, Ascites, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukocytosis, Pleural empyema, Leukopenia, Confusion, Pleural effusion, Hypoxemia, ... |
ORPHA:36238 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Death in childhoo... |
OMIM:612301 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in childhood, Death in infancy, Lethargy |
OMIM:619064 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy |
OMIM:312170 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia |
OMIM:300635 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Eosinophilic Fasciitis |
|
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Edema, Acrocyanosis |
ORPHA:3165 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Lethargy |
OMIM:236270 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Death in childhood |
OMIM:214150 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Glycerol Kinase Deficiency |
|
Coma, Lethargy, Loss of consciousness |
OMIM:307030 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Thrombocytopenia, Death in infancy, Oligohydramnios, Jaundice |
OMIM:208085 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Dehydration, Death in childhood, Hydrops f... |
OMIM:557000 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Lethargy |
OMIM:619386 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:927 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Lethargy |
ORPHA:49827 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Coma, Leukocytosis, Dehydration, Leukopenia, Thrombocytosis, Hypoglycemic coma, Edema, Anemia, Ja... |
ORPHA:20 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Death in childhood, Death in adolescence |
OMIM:560000 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
Hemochromatosis, Type 2A |
|
Lethargy, Splenomegaly |
OMIM:602390 |
Galactosemia |
|
Ascites, Jaundice, Abnormal erythrocyte enzyme level, Lethargy |
ORPHA:352 |
Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Pedal edema, Decreased ci... |
ORPHA:381 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dysphagia, Lethargy |
OMIM:233910 |
Carnitine Deficiency, Systemic Primary |
|
Excessive daytime somnolence, Coma, Confusion, Lethargy |
OMIM:212140 |
Schnitzler Syndrome |
|
Urticaria, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Insulinoma |
|
Fluctuations in consciousness, Coma, Polyphagia, Reduced consciousness/confusion, Lethargy |
ORPHA:97279 |
Trichinellosis |
|
Facial edema, Confusion, Dysphagia, Edema, Periorbital edema, Excessive daytime somnolence, Reduc... |
ORPHA:863 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Lambert Syndrome |
|
Decreased circulating antibody level, Jaundice |
ORPHA:1296 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... |
OMIM:615122 |
Classic Galactosemia |
|
Ascites, Jaundice, Abnormal erythrocyte enzyme level, Lethargy |
ORPHA:79239 |
Cholera |
|
Miscarriage, Palmoplantar cutis laxa, Dehydration, Lethargy, Loss of consciousness |
ORPHA:173 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Prematurely aged appearance, Mucosal telangiectasiae, Lymphopenia, De... |
ORPHA:100 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Neonatal death, Splenomegaly |
OMIM:263200 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Edema, Neutropenia |
OMIM:600351 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Drowsiness, Pancytopenia, Exce... |
ORPHA:2169 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Dehydration, Iron deficiency anemia, Neutropenia, Ascites, Jaundice |
ORPHA:1667 |
Citrullinemia Type Ii |
|
Fluctuations in consciousness, Coma, Delirium, Confusion, Abnormal eating behavior, Drowsiness, C... |
ORPHA:247585 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Choking episodes, Impaired oropharyngeal swallow response |
ORPHA:2004 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Lethargy |
OMIM:611590 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Splenomegaly, Impaired T cell function, Perianal erythema, Lethargy |
OMIM:201100 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Anemia, Death in childhood, Coma, Lethargy |
OMIM:615838 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Thrombocytopenia, Pleural effusion, Ascites, Lethargy |
OMIM:617397 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Citrullinemia Type I |
|
Coma, Lethargy, Loss of consciousness |
ORPHA:247525 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Lethargy |
OMIM:616483 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Coma, Cerebral edema, Lethargy |
OMIM:237300 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy, Prolonged neonatal jaundice |
ORPHA:95716 |
Leukoencephalopathy With Vanishing White Matter |
|
Lethargy |
OMIM:603896 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Coma, Leukocytosis, Dehydration, Schistocytosis, Excessive daytime somnolence, Microangiopathic h... |
ORPHA:90038 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Edema, Neutropenia, Ascites, Lethargy |
ORPHA:391673 |
Thymic Tumor |
|
Dysphagia, Palpebral edema, Dysgammaglobulinemia, Edema |
ORPHA:100100 |
Hemochromatosis Type 2 |
|
Lethargy |
ORPHA:79230 |
Lassa Fever |
|
Miscarriage, Facial edema, Increased circulating IgM level, Dysphagia, Jaundice |
ORPHA:99824 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Lethargy, Loss of consciousness |
ORPHA:156 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Cerebral edema, Lethargy |
OMIM:201450 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Death in infancy, Lethargy |
OMIM:301790 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Cyanosis |
ORPHA:621 |
Cystinosis |
|
Dehydration, Polydipsia |
ORPHA:213 |
Angiostrongyliasis |
|
Increased circulating IgA level, Coma, Increased circulating IgG level, Increased circulating spe... |
ORPHA:74 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Petechiae, Coma, Lymphopenia, Bruising susceptibility, Dehy... |
ORPHA:99826 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Cyanosis, Polycythemia |
OMIM:250800 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Maple Syrup Urine Disease |
|
Coma, Cerebral edema, Lethargy |
OMIM:248600 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Facial telangiectasia in butter... |
OMIM:210900 |
Bloom Syndrome |
|
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... |
ORPHA:125 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Death in childhood, Hypoplasia of the thymus, Polyhydramnios, Thromboc... |
OMIM:243150 |
Cirrhosis, Familial |
|
Ascites, Jaundice, Lethargy |
OMIM:215600 |
Zika Virus Disease |
|
Miscarriage, Subcutaneous hemorrhage, Increased circulating IgM level, Edema, Thrombocytopenia |
ORPHA:448237 |
Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Lethargy |
OMIM:222748 |
Meningococcal Meningitis |
|
Petechiae, Drowsiness, Purpura, Reduced consciousness/confusion, Lethargy |
ORPHA:33475 |
Typhoid |
|
Coma, Lethargy, Splenomegaly |
ORPHA:99745 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Lethargy, Neutropenia |
OMIM:614857 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Multiple Carboxylase Deficiency |
|
Coma, Lethargy |
ORPHA:148 |
Congenital Fibrinogen Deficiency |
|
Loss of consciousness, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Splenic rupture |
ORPHA:335 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt... |
OMIM:620005 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dehydration, Leukopenia, Polyhydramnios, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Secondary Short Bowel Syndrome |
|
Polyphagia, Dehydration |
ORPHA:95427 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Coma, Lethargy |
ORPHA:79242 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Death in childhood, Dysphagia |
DECIPHER:45 |
Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
Myxedema |
|
Lethargy |
OMIM:255900 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Idiopathic Intracranial Hypertension |
|
Lethargy |
ORPHA:238624 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Lethargy, Loss of consciousness |
ORPHA:42 |
Dopa-Responsive Dystonia |
|
Lethargy |
ORPHA:255 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:70587 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, T lymphocyto... |
ORPHA:79124 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Dehydration, Hydrops fetalis, Delirium, Neutropenia, Thrombocytopenia, Jaun... |
ORPHA:79282 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis, Peripheral edema, Pleural effusion, Reduced hematocrit, Pericardial effusion |
ORPHA:79126 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Coma, Confusion, Lethargy |
OMIM:238970 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Petechiae, Leukocytosis, Splenomegaly, Cyanosi... |
ORPHA:90051 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Boutonneuse Fever |
|
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:83313 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Coma, Lethargy |
ORPHA:83600 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Drowsiness |
ORPHA:98913 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased lymphocyte proliferation in response to mitogen, Joint swelling, Decreased proportion o... |
OMIM:619381 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Cyanosis |
OMIM:250790 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Death in childhood, Erythema, Pancytopenia, Cerebral edema, Lethargy |
OMIM:618321 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Neuroleptic Malignant Syndrome |
|
Coma, Leukocytosis, Dehydration, Delirium, Thrombocytosis, Reduced consciousness/confusion, Dysph... |
ORPHA:94093 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Visceral Steatosis, Congenital |
|
Jaundice, Coma, Neonatal death, Lethargy |
OMIM:228100 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:420741 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Coma, Dysphagia, Confusion, Lethargy |
OMIM:607483 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:2268 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Lethargy |
OMIM:255120 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Edema, Generalized ... |
OMIM:226300 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Edema, Prolonged neonatal jaundice |
ORPHA:226316 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Increased circulating IgA level, Erythema, Purpura, Acrocyanosis |
ORPHA:343 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy |
ORPHA:2394 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Polydipsia |
OMIM:304800 |
Shigellosis |
|
Splenic abscess, Urticaria, Leukocytosis, Dehydration, Abscess, Purpura, Microangiopathic hemolyt... |
ORPHA:810 |
Osteootohepatoenteric Syndrome |
|
Anemia, Dehydration, Prolonged neonatal jaundice |
OMIM:619377 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Coma, Lethargy |
ORPHA:159 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
Renal Hypoplasia |
|
Dehydration, Polydipsia |
ORPHA:93101 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Scrub Typhus |
|
Lethargy, Reduced consciousness/confusion, Splenomegaly |
ORPHA:83317 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Edema |
ORPHA:2302 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Lethargy |
OMIM:614922 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Cutis marmorata, Cutaneous photosensitivity, Decreased circulating antibody level, Progeroid faci... |
OMIM:300953 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Lethargy |
OMIM:277380 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Coma, Lethargy |
OMIM:253270 |
Ring Chromosome 21 Syndrome |
|
Cutaneous photosensitivity, Decreased circulating antibody level |
ORPHA:1445 |
Pearson Syndrome |
|
Neutropenia, Splenomegaly, Corneal stromal edema, Anemia, Dehydration, Hydrops fetalis, Dysphagia... |
ORPHA:699 |
Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Thrombocytosis, Pleural effusion, Edema, Asci... |
ORPHA:2905 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Drowsiness, Coma, Lethargy |
ORPHA:263455 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Colchicine Poisoning |
|
Leukocytosis, Dehydration, Reduced consciousness/confusion |
ORPHA:31824 |
Immunodeficiency 23 |
|
Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Erythema, Increased circulating IgG l... |
OMIM:615816 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Roifman Syndrome |
|
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly |
ORPHA:353298 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Pedal edema, Pleural effusion, Hypoxemia, Pericardial effusion |
ORPHA:199241 |
Hsd10 Disease, Infantile Type |
|
Dysphagia, Cyanosis |
ORPHA:391428 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... |
OMIM:615952 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Edema, Prolonged neonatal jaundice |
ORPHA:90673 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Chiari Malformation Type Ii |
|
Dysphagia, Cyanosis |
OMIM:207950 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Lethargy |
OMIM:201475 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Cyanosis, Brain abscess, Hypoxemia |
OMIM:610910 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Dravet Syndrome |
|
Bradykinesia, Cyanotic episode |
ORPHA:33069 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Lethargy |
OMIM:277410 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level |
OMIM:619750 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Alternating Hemiplegia Of Childhood |
|
Dysphagia, Dehydration, Flushing, Oral-pharyngeal dysphagia |
ORPHA:2131 |
Rift Valley Fever |
|
Miscarriage, Macular edema, Increased circulating IgG level, Increased circulating IgM level, Red... |
ORPHA:319251 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Neonatal death, Death in infancy |
OMIM:265120 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Dehydration, Acrocyanosis |
OMIM:259900 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:99832 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Coma, Lethargy |
OMIM:210200 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:443811 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Lethargy |
OMIM:229700 |
Ogden Syndrome |
|
Excessive daytime somnolence, Lethargy |
ORPHA:276432 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Dehydration, Hepatosplenomegaly, Bone-marrow foam cells, Anemia, Ascites,... |
ORPHA:275761 |
Pulmonary Arteriovenous Malformation |
|
Pleural empyema, Cyanosis, Brain abscess, Iron deficiency anemia, Hypoxemia, Telangiectasia, Live... |
ORPHA:2038 |
Choanal Atresia |
|
Cyanosis, Choking episodes |
ORPHA:137914 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
Oligomeganephronia |
|
Dehydration, Polydipsia |
ORPHA:2260 |
Vipoma |
|
Dehydration, Erythema, Subcutaneous lipoma, Ascites, Normochromic anemia, Intermittent jaundice |
ORPHA:97282 |
Congenital Myasthenic Syndrome |
|
Dysphagia, Polyhydramnios, Cyanosis, Choking episodes |
ORPHA:590 |
Simple Cryoglobulinemia |
|
Vascular skin abnormality, Complement deficiency, Monoclonal elevation of circulating IgA, Monocl... |
ORPHA:91139 |
Presynaptic Congenital Myasthenic Syndromes |
|
Dysphagia, Polyhydramnios, Cyanosis, Choking episodes |
ORPHA:98914 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Delirium, Confusion, Neutropenia, Thrombocytopenia, Lethargy |
OMIM:277400 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint swelling, Lethargy, Splenomegaly |
ORPHA:465508 |
Tick-Borne Encephalitis |
|
Coma, Leukocytosis, Decreased vigilance, Leukopenia, Delirium, Increased circulating IgG level, A... |
ORPHA:297 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Increased circulating IgA level, Lymphopenia, Cutis marmorata, Leukopenia, Erythe... |
OMIM:615934 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Oligohydramnios, Death in infancy, Lethargy |
OMIM:608836 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Lethargy |
OMIM:609015 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Coma, Oral aversion, Hemophagocytosis, Complement deficienc... |
ORPHA:470 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Ascites, Pulmonary edema |
OMIM:261740 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Pericardial effusion, Lethargy |
ORPHA:26793 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... |
ORPHA:293978 |
Ataxia-Telangiectasia |
|