Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... |
OMIM:618987 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... |
OMIM:615897 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 84 |
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B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly |
OMIM:619437 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Verrucae, De... |
OMIM:618969 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Failure to thrive... |
OMIM:300400 |
Caspase 8 Deficiency |
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Short stature, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG leve... |
OMIM:607271 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency 76 |
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B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Lymphopenia, T l... |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhyp... |
OMIM:601457 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lack of T cell function, Failure to thrive, Absence of lymph node germinal cen... |
ORPHA:277 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Joubert Syndrome 13 |
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Pachygyria, Molar tooth sign on MRI |
OMIM:614173 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Transcobalamin Deficiency |
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Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Omenn Syndrome |
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B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Immunodeficiency 85 And Autoimmunity |
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Failure to thrive in infancy, Growth delay, Decreased circulating IgA level, Decreased circulatin... |
OMIM:619510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
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Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cortical dysplasia, Simplified gy... |
OMIM:615763 |
Immunodeficiency 42 |
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Hypoplasia of the thymus |
OMIM:616622 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... |
OMIM:236000 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia, Short stature |
OMIM:610798 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... |
OMIM:618108 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Failure to thrive, Decreased circulating IgA level, Reduced red cell adenosine... |
OMIM:102700 |
Lissencephaly 1 |
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Subcortical band heterotopia, Pachygyria, Hypoplasia of the brainstem, Agyria, Abnormal cerebral ... |
OMIM:607432 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... |
OMIM:153600 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Increased circulating IgE level, Squa... |
ORPHA:217390 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Hypoplasia of the brainstem, Cortical dysplasia, Polymicrogyria, Microcephaly |
OMIM:615771 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to thrive, Decreased circulating anti... |
OMIM:601495 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Failure to thrive, Decreased circulating IgA level, Decreased circulating ... |
ORPHA:331206 |
Immunodeficiency 50 |
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Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Polymicrogyria Due To Tubb2B Mutation |
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Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... |
ORPHA:300573 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Failure to t... |
OMIM:618534 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunoerythromyeloid Hypoplasia |
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Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... |
OMIM:614039 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
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Cerebral white matter hypoplasia, Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Polymic... |
OMIM:618730 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Lymphoproliferative Syndrome 3 |
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Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... |
OMIM:618261 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Intrauterine growth retardation, Neutropenia, Decreased circulating IgG level, Severe short statu... |
ORPHA:2643 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Immunodeficiency 52 |
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Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... |
ORPHA:35078 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Intermittent th... |
OMIM:150550 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Intrauterine growth retardation, Neutropenia, Decreased circulating IgG level, Severe short statu... |
OMIM:251190 |
Lissencephaly 3 |
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Pachygyria, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Agyri... |
OMIM:611603 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Immunodeficiency, Common Variable, 11 |
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Decreased proportion of class-switched memory B cells, Growth delay, Failure to thrive, Decreased... |
OMIM:615767 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Decreased circ... |
OMIM:616100 |
Agammaglobulinemia 3, Autosomal Recessive |
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Failure to thrive, Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 68 |
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B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Reticuloendotheliosis, X-Linked |
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Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, L... |
OMIM:300853 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenopathy, Splenome... |
OMIM:608971 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... |
OMIM:617241 |
X-Linked Lymphoproliferative Disease |
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Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Agammaglobulinemia 7, Autosomal Recessive |
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Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgA leve... |
OMIM:606367 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 75 |
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Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Ravine Syndrome |
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Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormality of the b... |
ORPHA:99852 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Primary Intestinal Lymphangiectasia |
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Growth delay, Decreased circulating IgA level, Weight loss, Decreased circulating antibody level,... |
ORPHA:90362 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... |
ORPHA:3261 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal size of pituitary gland, Failure to thrive, Abnormal lymphocyte morphology, Decreased ci... |
ORPHA:293978 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Lymphadenopathy, Burkitt lymphoma, Decreased circulating antibody level, Reduced nat... |
OMIM:308240 |
Asplenia, Isolated Congenital |
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Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
Immunodeficiency 48 |
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Failure to thrive, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 25 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... |
ORPHA:255182 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Failure to thrive, Decreased circulating IgA level, Decreased cir... |
OMIM:275350 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Growth delay, Short stature, Decreased circulating antibody level, Sp... |
OMIM:616005 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
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Atrophy/Degeneration affecting the brainstem, Cerebral atrophy |
OMIM:616192 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility, Asplenia |
OMIM:618948 |
Septopreoptic Holoprosencephaly |
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Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... |
ORPHA:280195 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Failure to thrive, Increased circulating IgA level, Lymphadenopathy, Decreased lymph... |
ORPHA:169154 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... |
OMIM:619220 |
Pontocerebellar Hypoplasia Type 10 |
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Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology |
ORPHA:411493 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... |
OMIM:613179 |
Bone Marrow Failure Syndrome 4 |
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Short stature, Leukopenia, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... |
OMIM:618116 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... |
OMIM:600802 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Dysgyria, Hypoplasia of the brainstem, Abnormal cerebral white matter morphology, Gray matter het... |
ORPHA:352682 |
Reticular Dysgenesis |
|
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Abnorma... |
ORPHA:33355 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circulating antibody ... |
OMIM:615285 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent duct... |
OMIM:612541 |
Bloom Syndrome |
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Intrauterine growth retardation, Small for gestational age, Leukemia, Decreased circulating IgA l... |
OMIM:210900 |
Whim Syndrome 1 |
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Verrucae, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... |
OMIM:615559 |
Bloom Syndrome |
|
Neoplasm of the skin, Acute lymphoblastic leukemia, Decreased circulating antibody level, Prematu... |
ORPHA:125 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating antibody level, Growth delay, Short stature |
OMIM:617744 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Selective Igm Deficiency |
|
Thyroid carcinoma, Decreased specific antibody response to vaccination, Stomach cancer, Multiple ... |
ORPHA:331235 |
Macrocephaly/Autism Syndrome |
|
Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Small basal ganglia, Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia |
ORPHA:263410 |
Immunodeficiency 46 |
|
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... |
OMIM:616740 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, Hypoplasia of t... |
OMIM:619072 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Hypoplasia of the corpus ... |
OMIM:617862 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Intrauterine growth retardation, Rhabdomyosarcoma, Short stature, Lymphoma, Dy... |
OMIM:251260 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Decreased circula... |
OMIM:616084 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... |
OMIM:617780 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... |
OMIM:209950 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Decreased circulating antibody level, Anemia, Pure red cell ap... |
OMIM:618165 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Decreased lymphocyte apoptosis,... |
OMIM:614470 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Mirage Syndrome |
|
Adrenal insufficiency, Leukopenia, Anemia, Patent ductus arteriosus, Lymphopenia, Hypergonadotrop... |
OMIM:617053 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells |
OMIM:301045 |
Ataxia-Telangiectasia |
|
Short stature, Failure to thrive, Polycystic ovaries, Decreased circulating antibody level, Neopl... |
ORPHA:100 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the brainstem, Hypoplasia of the... |
OMIM:615191 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Mi... |
OMIM:617542 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... |
OMIM:618982 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulatin... |
OMIM:613011 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Failure to thrive secondary to recurrent infections, Decreased c... |
ORPHA:169160 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Myelodysplasia, Leukopenia, Short stature, Bone marrow hypocellul... |
ORPHA:508542 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia |
OMIM:243150 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Short stature, Absent circulating B cells, Panhypogammaglobulinemia, Decreased response to growth... |
OMIM:307200 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Schnitzler Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Alpha-Heavy Chain Disease |
|
Growth delay, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Dysgammaglobulinemia, Premature ov... |
ORPHA:100025 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Capillary hemangioma, Decr... |
ORPHA:508533 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level, Short stature, Small for gestational... |
OMIM:215250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Failure to thrive, Decreased circulating IgA level, Reduced natural killer cell co... |
OMIM:242860 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... |
OMIM:615122 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Cho... |
ORPHA:83617 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 47 |
|
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... |
OMIM:300972 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... |
OMIM:614034 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Failure to thrive, Decreased circulating IgA level, Impaired memory B cell generatio... |
OMIM:308230 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... |
OMIM:615190 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Verrucae, Decreased circulating IgG level, Failure to thrive, De... |
ORPHA:275 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Abnormal spermatogenesis, Decreased proportion of CD4-positiv... |
OMIM:208900 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia |
OMIM:242700 |
Alg12-Cdg |
|
B lymphocytopenia, Intrauterine growth retardation, Partial absence of specific antibody response... |
ORPHA:79324 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia |
OMIM:616576 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... |
OMIM:617099 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Lymph node hypoplasia |
OMIM:300755 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Lymphoma, B-cell lymphoma,... |
ORPHA:90363 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Growth delay, Short stature, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating... |
OMIM:240500 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Icf Syndrome |
|
Short stature, Decreased circulating antibody level, Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Absence of lymph node germinal center, Anemia, Abnormal serum inter... |
ORPHA:79124 |
Roifman Syndrome |
|
Intrauterine growth retardation, Short stature, Lymphadenopathy, Decreased circulating antibody l... |
ORPHA:353298 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Cryptorchidism, Jaundice |
OMIM:214110 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia |
ORPHA:563609 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Abnormal lymphocyte pro... |
ORPHA:99867 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Growth delay, Short stature, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum, Hypoplasia of the pons, Abnormal... |
ORPHA:370959 |
Immunodeficiency 61 |
|
Obesity, Agammaglobulinemia, Colon cancer |
OMIM:300310 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Developmental And Epileptic Encephalopathy 5 |
|
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Cerebral atrophy, Hypopla... |
OMIM:613477 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Griscelli Syndrome |
|
Leukopenia, Short stature, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hyp... |
ORPHA:381 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, ... |
ORPHA:77299 |
Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Decreased specific pneumococcal antibody level, Chronic decreased ci... |
OMIM:613496 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... |
ORPHA:84064 |
Pgm3-Cdg |
|
Neutropenia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
ORPHA:443811 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... |
OMIM:612301 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology, Polymicrogyria, Agyria, Hypoplasia of th... |
ORPHA:370997 |
Stormorken Syndrome |
|
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia |
OMIM:185070 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Gastrointestinal stroma tumor, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Achondroplasia |
|
Brain stem compression, Megalencephaly |
OMIM:100800 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal brainstem morphology, Cerebral edema, Abnormal brainstem MR... |
ORPHA:88619 |
Pearson Syndrome |
|
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Neutropenia, Macronodular cirrhosis, Dec... |
ORPHA:699 |
Immunodeficiency 23 |
|
Neutropenia, Hodgkin lymphoma, Failure to thrive, Abscess, Increased circulating IgG level, Incre... |
OMIM:615816 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia, Short stature, Recurrent cutaneous abscess formation, Failure to... |
ORPHA:47 |
Cowden Syndrome 1 |
|
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Decreased circulating ... |
OMIM:158350 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hodgkin lymphoma, Short stature, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:615952 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thro... |
ORPHA:90045 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
Popov-Chang syndrome |
|
Failure to thrive, Decreased circulating antibody level, Lymphopenia, Short stature |
OMIM:618428 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:615577 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly |
OMIM:614120 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis |
OMIM:615415 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... |
OMIM:608106 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... |
OMIM:269200 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Growth delay |
OMIM:614069 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... |
OMIM:240300 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Macrocytic anemia, Anterior pituitary dysgenesis, Leukopenia, Apla... |
ORPHA:227982 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Hypoplasia of the corpus callosum |
OMIM:617761 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... |
ORPHA:227990 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Decreased proportion of class-switched memory B cells, Comp... |
OMIM:233600 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Disproportionate short stature, Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... |
OMIM:611560 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Elevated circulating follicle s... |
OMIM:602668 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Verrucae, Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... |
ORPHA:183675 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Neutropenia, Failure to thrive, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, R... |
ORPHA:436252 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Lymphadeno... |
ORPHA:540 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Netherton Syndrome |
|
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... |
OMIM:256500 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Thrombocytope... |
ORPHA:169105 |
Gangliocytoma |
|
Abnormal prolactin level, Abnormality of the pituitary gland, Abnormal brainstem morphology, Pitu... |
ORPHA:251937 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Immunodeficiency 15B |
|
Failure to thrive, Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Decreased circulating antibody level, Intrauterine growth retardation, Agammaglob... |
OMIM:616910 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Atrophy/Degeneration affecting the brainstem, Microcephaly, Cerebral atrophy |
OMIM:613612 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Short stature, Patent ductus arteriosus, Abnormal B cell morphology, Decrease... |
OMIM:618223 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Abnormal cerebral cortex morphology |
ORPHA:163961 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, Failure to thriv... |
ORPHA:79329 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Hypoplasia of the corpus callosum, Leukoencephalopathy, Abnormal brainstem MRI signal intensity, ... |
ORPHA:83629 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Whim Syndrome |
|
Cutaneous melanoma, Neutropenia, Cervix cancer, Lymphadenitis, Verrucae, Decreased circulating an... |
ORPHA:51636 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Aplasia... |
ORPHA:83471 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Multiple myeloma, Monoclonal immunoglobulin M proteinemia, Weight los... |
ORPHA:91139 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Vici Syndrome |
|
Growth delay, Failure to thrive, Cutaneous anergy, Decreased circulating IgG level, Decreased pro... |
OMIM:242840 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology, Encephalomalacia |
ORPHA:231160 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia |
ORPHA:244 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Rhizomelia, Large for gestational age, Thrombocytopenia, Cryptor... |
OMIM:616638 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Asplenia |
OMIM:244400 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Patent ductus arteriosus, Splenomeg... |
OMIM:617303 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Lambert Syndrome |
|
Failure to thrive in infancy, Decreased circulating antibody level, Intrauterine growth retardation |
ORPHA:1296 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Intrauterine growth retardation, Growth delay, Impaired T cell function, Failure to thrive, Paten... |
OMIM:614576 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short stature, Small for gestational age, Neoplasm of the pancreas, Neoplasm, Microcytic anemia, ... |
ORPHA:2959 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Cerebral white matter atrophy, Atrophy/Degeneration affecting the b... |
ORPHA:356961 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating IgA level, Patent ductus arteriosus, Decreased circulat... |
ORPHA:369837 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy |
OMIM:617718 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of the thymus, Patent ductus arteriosus, Abnormality of the adrena... |
ORPHA:861 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
Mannosidosis, Alpha B, Lysosomal |
|
Vacuolated lymphocytes, Decreased circulating antibody level, Growth delay, Splenomegaly |
OMIM:248500 |
Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... |
OMIM:617062 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Abnormal brainstem morphology, Elongated superior cerebellar peduncle |
ORPHA:370022 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Abdominal situs inversus, Asplenia |
OMIM:619123 |
Riddle Syndrome |
|
Short stature, Decreased circulating IgA level, Weight loss, Decreased circulating IgG level, Gen... |
ORPHA:420741 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Eec Syndrome |
|
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... |
ORPHA:1896 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Decrease... |
OMIM:615688 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Growth delay |
OMIM:226300 |
Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Asplenia |
OMIM:617746 |
Leigh Syndrome With Cardiomyopathy |
|
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral cortex morp... |
ORPHA:70474 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Short stature, Decreased ... |
ORPHA:3132 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, ... |
OMIM:617822 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:98755 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Patent ductus arteriosus, Asplenia, Annular pancreas |
ORPHA:210122 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypoplasia of the thymus, Abnormality of the tonsils, Cholelithiasis, Patent ... |
ORPHA:567 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Abnormal bra... |
ORPHA:444013 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Short stature, Iron deficiency anemia, Failure to thrive, Weig... |
OMIM:212750 |
Right Atrial Isomerism |
|
Abdominal situs ambiguus, Polysplenia, Asplenia |
OMIM:208530 |
Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Polymicrogyria, Br... |
ORPHA:1136 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Short stature, Recurrent cutaneous abscess f... |
OMIM:618131 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Patent ductus arteriosus, Accessory spleen, Polysplenia |
OMIM:164280 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal corpus callosum morp... |
ORPHA:206448 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level, Intrauterine growth retardation |
ORPHA:448237 |
Multiple Myeloma |
|
Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circulating antibody lev... |
ORPHA:29073 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Lymphoproliferative disorder, Cryoglobulinemia, Decreased serum co... |
ORPHA:289390 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Short stature, Decreased circulating IgA level, Splenomegaly, Hyper... |
OMIM:613385 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:612692 |
Microgastria-Limb Reduction Defects Association |
|
Asplenia, Splenogonadal fusion, Absent gallbladder, Cryptorchidism, Biliary tract abnormality |
OMIM:156810 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Failure to thrive, Rhizomelia, Decreased circulating antibody level, P... |
OMIM:607143 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Small for gestational age, Failure to thr... |
ORPHA:1304 |
Riddle Syndrome |
|
Decreased circulating IgG level, Short stature |
OMIM:611943 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Patent ductus arteriosus |
ORPHA:99811 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Short stature, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocy... |
OMIM:607944 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Asplenia, Patent ductus arteriosus, Biliary atresia, Polysplenia |
OMIM:306955 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Patent ductus a... |
ORPHA:505248 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level, Short stature |
ORPHA:1445 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphadenopathy, Lymphangioma, Decreased circulating antibody ... |
ORPHA:2136 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Cryptorchidism, Asplenia, Patent ductus arteriosus |
ORPHA:99776 |
Dubowitz Syndrome |
|
Neuroblastoma, Acute lymphoblastic leukemia, Intrauterine growth retardation, Decreased circulati... |
OMIM:223370 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal brainstem MRI... |
ORPHA:254930 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Decreased circulating IgA level |
OMIM:208910 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Abnormality of the diencephalon |
ORPHA:2720 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Monosomy 22 |
|
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia |
ORPHA:96123 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:212065 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Patent ductus arteriosus |
ORPHA:3384 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Pancreatic cysts, Short stature, Decreased circulating antibody level, Anemia, Hepa... |
OMIM:274000 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:68 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Growth delay, Failure to thrive, Decreased circulating antibody level, Anemia, Squamous cell carc... |
ORPHA:79396 |
Joubert Syndrome 2 |
|
Brainstem dysplasia, Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle,... |
OMIM:608091 |
Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala... |
ORPHA:83597 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level |
DECIPHER:45 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Trichothiodystrophy |
|
Neutropenia, Intrauterine growth retardation, Anemia, Impaired social reciprocity, Panhypogammagl... |
ORPHA:33364 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Abnormal isohemagglutinin level, Intrauterine growth retardation, Short stature, Sm... |
ORPHA:99843 |
47,Xyy Syndrome |
|
Abnormal brainstem morphology, Increased circulating gonadotropin level |
ORPHA:8 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla... |
OMIM:300291 |
Gaisböck Syndrome |
|
Obesity, Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Ove... |
ORPHA:90041 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... |
ORPHA:314621 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level, Intrauterine growth retardation, Short stature |
OMIM:300953 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Patent ductus arteri... |
OMIM:249000 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level, Short stature |
ORPHA:1006 |
Thymic Tumor |
|
Neuroendocrine neoplasm, Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus |
ORPHA:100100 |
Lysinuric Protein Intolerance |
|
Leukopenia, Failure to thrive, Decreased circulating antibody level, Anemia, Complement deficienc... |
ORPHA:470 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Increased circulating IgA level, Lymphadenopathy, Weight loss... |
ORPHA:79078 |
Cartilage-Hair Hypoplasia |
|
Neutropenia, Failure to thrive, Rhizomelia, Decreased circulating antibody level, Anemia, Disprop... |
ORPHA:175 |
Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal pons morphology, Abnormal cerebral morphology, Abnormal ca... |
ORPHA:79139 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Posterior pituitary hypoplasia, Patent ductus arteriosus, Abno... |
ORPHA:464311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Pachygyria, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Agyri... |
OMIM:236670 |
Joubert Syndrome 38 |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Molar tooth sign on... |
OMIM:619476 |
Leigh Syndrome |
|
Focal T2 hyperintense brainstem lesion, Neuronal loss in basal ganglia, Focal T2 hyperintense bas... |
ORPHA:506 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Abnormality of the ductus choledochus, Increased circ... |
ORPHA:562639 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... |
ORPHA:564 |
Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level |
ORPHA:319251 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Hemangioma, Decreased circulating IgA level, Large for gestational age, Cryptor... |
ORPHA:457485 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Splenomegaly |
OMIM:613327 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Disproportionate short-limb short stature, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Short stature |
ORPHA:1951 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Short stature |
ORPHA:634 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Asplenia |
OMIM:273395 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Increased circu... |
ORPHA:228123 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Short stature |
ORPHA:1493 |
Joubert Syndrome 1 |
|
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... |
OMIM:213300 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Parotit... |
ORPHA:99827 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Periventricula... |
ORPHA:444072 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Short stature, Decreased circulating IgG level, Basal cell carcinoma, ... |
OMIM:601675 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Cerebral cortical atrophy |
ORPHA:93256 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Pachygyria, Cerebral edema, Abnormal brainstem MRI signal intensity, Lis... |
ORPHA:258 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... |
ORPHA:99829 |
Immunodeficiency 56 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:615207 |
Meningioma |
|
Enlarged pituitary gland, Hypothalamic hypothyroidism, Pituitary hypothyroidism, Focal T2 hypoint... |
ORPHA:2495 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Failure to thrive in infancy, Intrauterine growth retardation, Decreased circulating antibody lev... |
ORPHA:247598 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Asplenia |
ORPHA:221120 |
Arima Syndrome |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia |
OMIM:243910 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Cholelith... |
ORPHA:171 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Monosomy 18Q |
|
Astrocytoma, Growth delay, Short stature, Failure to thrive, Decreased circulating IgA level, Sle... |
ORPHA:1600 |
Paget Disease Of Bone 2, Early-Onset |
|
Brain stem compression |
OMIM:602080 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level |
OMIM:606056 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs ambiguus, Abdominal situs inversus, Asplenia, Patent ductus arteriosus |
OMIM:270100 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal periventricular white matter morphology, Abnormality of the brainstem white matter |
ORPHA:139396 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Semilobar Holoprosencephaly |
|
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... |
ORPHA:93924 |
Sponastrime Dysplasia |
|
Intrauterine growth retardation, Neutropenia, Small for gestational age, Rhizomelia, Decreased ci... |
ORPHA:93357 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary lymphangiectasia, Patent ductus arteriosus, Asplenia, Annular pancreas |
OMIM:265380 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Absent mesencephalon |
OMIM:601374 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Proteus Syndrome |
|
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus,... |
ORPHA:744 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Increased circulating IgM level, Hepatocellular carcinoma |
ORPHA:186 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Gonadotropin deficiency, Adrenocorticotropic hormone deficiency, Ce... |
ORPHA:293987 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Decreased circulating antibody level |
OMIM:618183 |
Viss Syndrome |
|
Short stature, Failure to thrive, Decreased circulating IgA level, Exostosis of the external audi... |
OMIM:619472 |
Distal Monosomy 19P13.3 |
|
Decreased circulating antibody level |
ORPHA:96129 |
Arnold-Chiari Malformation Type I |
|
Brain stem compression |
ORPHA:268882 |
Mowat-Wilson Syndrome |
|
Oligomenorrhea, Asplenia, Chordee, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Chordee, Cryptorchidism, Asplenia, Hydrocele testis |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Chordee, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis |
ORPHA:261552 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Intrauterine growth r... |
ORPHA:500150 |
Listeriosis |
|
Abnormal brainstem MRI signal intensity |
ORPHA:533 |
Neurofibromatosis Type 2 |
|
Brain stem compression |
ORPHA:637 |
Osteogenesis Imperfecta |
|
Brain stem compression |
ORPHA:666 |