Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:247630 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... |
OMIM:616452 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Chronic decreased circulating total IgG, Decreased circulating t... |
OMIM:613493 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating IgG level, Increased circulating interleuk... |
OMIM:618944 |
Immunodeficiency, Common Variable, 14 |
|
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B... |
OMIM:617765 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:859 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617744 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced nat... |
OMIM:300400 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... |
OMIM:618969 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 18 |
|
Defective T cell proliferation |
OMIM:615615 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia |
OMIM:269840 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607594 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... |
OMIM:619281 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613501 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:2643 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:251190 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 61 |
|
Agammaglobulinemia |
OMIM:300310 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613502 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:616100 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:619510 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... |
ORPHA:70593 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:612692 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:602668 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level |
OMIM:617006 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:331206 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Increased circulating IgE level, Increased circula... |
OMIM:617241 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:275350 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:619220 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency 64 |
|
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... |
OMIM:618534 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level |
ORPHA:169079 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Immunodeficiency 46 |
|
Decreased circulating antibody level |
OMIM:616740 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level |
OMIM:616576 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Complete... |
OMIM:613496 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Partial IgA deficiency, Decreased lymphocyte proliferation in response t... |
ORPHA:35078 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia |
OMIM:601457 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating anti... |
OMIM:308240 |
Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Bone marrow hypocellularity |
OMIM:618116 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:601495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Increased circulating IgE level, Absent specific antibody respon... |
OMIM:102700 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... |
OMIM:300853 |
Immunodeficiency 52 |
|
Decreased circulating antibody level |
OMIM:617514 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia |
ORPHA:100025 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:210900 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level |
ORPHA:1116 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level |
OMIM:605309 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... |
OMIM:600903 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618108 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific antibody res... |
OMIM:614700 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity |
OMIM:615190 |
Reticular Dysgenesis |
|
Decreased circulating antibody level |
ORPHA:33355 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased circulating total IgA, Decreased specific antibody response to vaccination, Decreased c... |
ORPHA:221139 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:612301 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level |
OMIM:600351 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level |
OMIM:300635 |
Immunodeficiency 36 |
|
Decreased circulating antibody level |
OMIM:616005 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency 47 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:300972 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617780 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:169160 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia |
OMIM:602450 |
Immunodeficiency 27A |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:209950 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Abnormality of B cell physiology, Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyt... |
OMIM:600802 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level |
OMIM:246550 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia |
ORPHA:251009 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... |
ORPHA:2442 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:209920 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Decreased circulating IgG level, Bone marrow hypocellularity, In... |
ORPHA:3261 |
Lymphoproliferative Syndrome 2 |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen |
OMIM:615122 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... |
ORPHA:90363 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Thymic Tumor |
|
Dysgammaglobulinemia |
ORPHA:100100 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:420741 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:603909 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level |
ORPHA:275 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level |
ORPHA:100 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... |
OMIM:301000 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... |
ORPHA:540 |
Boutonneuse Fever |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:83313 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation... |
ORPHA:572 |
Selective Igm Deficiency |
|
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... |
ORPHA:331235 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased serum complement C4, Reduced natural killer cell activity, Increased circulating antibo... |
OMIM:615559 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:125 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Increased circulating IgM level |
OMIM:242860 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |
OMIM:615207 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level |
OMIM:300953 |
Roifman Syndrome |
|
Decreased circulating antibody level |
ORPHA:353298 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level |
OMIM:606056 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating IgG level, ... |
ORPHA:276 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:613011 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... |
ORPHA:74 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169154 |
Hereditary Folate Malabsorption |
|
Decreased circulating antibody level |
ORPHA:90045 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level |
OMIM:617099 |
Griscelli Syndrome |
|
Decreased circulating antibody level, Bone marrow hypocellularity |
ORPHA:381 |
Icf Syndrome |
|
Decreased circulating antibody level |
ORPHA:2268 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia |
ORPHA:33110 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased lymphocyte proliferati... |
OMIM:618986 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level |
OMIM:615952 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level |
OMIM:608809 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Complement deficiency, Paraproteinemia, Increased circul... |
ORPHA:91139 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level |
OMIM:226300 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Thymoma |
|
Abnormal lymphocyte proliferation, Decreased circulating antibody level, Abnormal lymphocyte phys... |
ORPHA:99867 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased circulating IgA level, Increased circulating IgE level, Decreased lymphocyte proliferat... |
OMIM:606367 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating antibody level |
OMIM:607143 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... |
OMIM:233600 |
Popov-Chang syndrome |
|
Decreased circulating antibody level |
OMIM:618428 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia |
ORPHA:47 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia |
OMIM:165550 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Good Syndrome |
|
Decreased circulating antibody level |
ORPHA:169105 |
Immunodeficiency 58 |
|
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Decrea... |
OMIM:618131 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:617388 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T ... |
OMIM:242840 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level |
OMIM:617425 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... |
OMIM:120200 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Increased circulating IgM level, Increased circulating IgG level |
OMIM:615816 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Defective B cell differentiation, Decreased circulating IgG leve... |
OMIM:208900 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... |
ORPHA:29073 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Distal Monosomy 19P13.3 |
|
Decreased circulating antibody level |
ORPHA:96129 |
Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mitogen, Decre... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM |
ORPHA:83617 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
ORPHA:935 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level |
OMIM:208910 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Panhypogammaglobulinemia, Abnormal serum interleukin level |
ORPHA:79124 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Decreased circulating antibody level |
OMIM:616084 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Alg12-Cdg |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Partial absen... |
ORPHA:79324 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregat... |
ORPHA:79329 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia |
OMIM:300755 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Decreased lymphocyte proliferation in response to mitogen, Impa... |
OMIM:613179 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Bone marrow hypocellularity |
OMIM:617303 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... |
OMIM:618213 |
Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level |
OMIM:248500 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia |
OMIM:307200 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level |
OMIM:158350 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating antibody level |
ORPHA:293978 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Increased circulating IgM level |
ORPHA:186 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:212065 |
Say-Barber-Miller Syndrome |
|
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased circulating antibody l... |
ORPHA:3132 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level |
OMIM:613385 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... |
ORPHA:449432 |
Common Variable Immunodeficiency |
|
Decreased circulating antibody level |
ORPHA:1572 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Dysphagia, Exaggerated startle response |
OMIM:617301 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Exaggerated... |
OMIM:253800 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... |
ORPHA:297 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level |
OMIM:613327 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Rift Valley Fever |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:319251 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Tay-Sachs Disease |
|
Optic atrophy, Dysphagia, Exaggerated startle response, Tremor, Increased serum beta-hexosaminidase |
ORPHA:845 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function |
ORPHA:1830 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity |
ORPHA:505248 |
Autoimmune Polyendocrinopathy Type 4 |
|
Decreased circulating antibody level |
ORPHA:227990 |
Japanese Encephalitis |
|
Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... |
ORPHA:91495 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level |
OMIM:212750 |
Whim Syndrome |
|
Decreased circulating antibody level |
ORPHA:51636 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Decreased circulating antibody level |
ORPHA:79396 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Nijmegen Breakage Syndrome |
|
Dysgammaglobulinemia |
OMIM:251260 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:223370 |
Autoimmune Polyendocrinopathy Type 3 |
|
Decreased circulating antibody level |
ORPHA:227982 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 level |
ORPHA:79078 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Dysphagia, Exaggerated startle response |
OMIM:617527 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Decreased circulating antibody level, Bone marrow hypocellularity |
OMIM:615688 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
Thymic Aplasia |
|
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Exaggerated startle response, Impaired oropharyngeal swallow response |
ORPHA:521426 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
Trichothiodystrophy |
|
Panhypogammaglobulinemia |
ORPHA:33364 |
Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level |
ORPHA:175 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Decreased circulating antibody level |
OMIM:274000 |
Primary Sjögren Syndrome |
|
Cryoglobulinemia, Decreased serum complement C4, Decreased circulating antibody level, Complement... |
ORPHA:289390 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Coccidioidomycosis |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:228123 |
Hennekam Syndrome |
|
Decreased circulating antibody level |
ORPHA:2136 |
Syndromic Diarrhea |
|
Panhypogammaglobulinemia |
ORPHA:84064 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased circulating antibody level |
ORPHA:247598 |
Lysinuric Protein Intolerance |
|
Complement deficiency, Increased circulating antibody level, Decreased circulating antibody level... |
ORPHA:470 |
Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system, Dysphagia |
ORPHA:637 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level |
ORPHA:99843 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... |
ORPHA:544482 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Yellow Fever |
|
Increased circulating interleukin 6, Increased circulating IgM level |
ORPHA:99829 |
Brucellosis |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:1304 |
Primary Sclerosing Cholangitis |
|
Polyclonal elevation of IgM |
ORPHA:171 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgM level, Increased circulating IgG level |
ORPHA:99827 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level |
ORPHA:93357 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma |
OMIM:300166 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma |
OMIM:619539 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level |
ORPHA:500150 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dysphagia, Optic disc pallor, Exaggerated startle response, Decreased serum iron |
ORPHA:438213 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment, Ectopia lentis |
ORPHA:649 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
Viss Syndrome |
|
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level |
OMIM:619472 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Dysphagia, Exaggerated startle response |
OMIM:619522 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Decreased circulating antibody level |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Decreased circulating antibody level |
ORPHA:261552 |