| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... |
OMIM:300400 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... |
OMIM:269840 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... |
OMIM:617514 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Alopecia, Failure to thrive, Decreased... |
ORPHA:169154 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells... |
OMIM:611926 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o... |
ORPHA:277 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal ... |
OMIM:620632 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Paraplegia, Hemiparesis... |
ORPHA:79124 |
| Ataxia-Telangiectasia |
|
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor... |
OMIM:208900 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level,... |
ORPHA:98813 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Aut... |
OMIM:618495 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... |
OMIM:612782 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... |
OMIM:608971 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... |
OMIM:607271 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... |
OMIM:615617 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Paraparesis, Panc... |
ORPHA:27 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... |
OMIM:603909 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... |
OMIM:613501 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay |
OMIM:619164 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... |
OMIM:618048 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Spasticity, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin pigment... |
OMIM:607624 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
| Omenn Syndrome |
|
Thickened skin, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia... |
OMIM:603554 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... |
OMIM:601457 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Panhypog... |
OMIM:602450 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Abno... |
ORPHA:911 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... |
OMIM:615767 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Decreased circulating IgA level, Large for gestational age, Diastasis recti, Cryptorc... |
OMIM:616638 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Decreased proportion of CD8-p... |
OMIM:615607 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy |
OMIM:618806 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology, Intrauterine growth retardation, Cryptorchidism, Agammaglobulinemia, ... |
OMIM:616910 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepat... |
ORPHA:397596 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp... |
OMIM:209950 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl... |
OMIM:247800 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen... |
OMIM:242700 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple... |
OMIM:616005 |
| Syndromic Diarrhea |
|
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dysplasia, ... |
ORPHA:84064 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Alopecia universa... |
OMIM:606367 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac... |
OMIM:243150 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Decreased circulating IgA le... |
OMIM:612783 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Noonan Syndrome 14 |
|
Sparse eyebrow, Lymphopenia, Cryptorchidism, Low posterior hairline, Hyperhidrosis, Scapular wing... |
OMIM:619745 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Congenital ichthyosiform erythroderma, Bilateral cryptorchidism, Trichorrhexis... |
OMIM:616395 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos... |
OMIM:620210 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Thrombocytopenia, Curly hair, Camptodactyly, Sparse hair, Growth de... |
OMIM:619980 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Limb muscle weakness, Gait ataxia, Dysmetria, Hemip... |
ORPHA:217260 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairline, Curly hair, Short statu... |
OMIM:613224 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Tongue fasciculations, Hypothyroidism, B lymphocytopenia, Flexion contracture |
OMIM:619851 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decr... |
OMIM:102700 |
| Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Nail... |
OMIM:615934 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... |
ORPHA:859 |
| Ataxia-Telangiectasia |
|
Ataxia, Spasticity, Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, Failure to thrive,... |
ORPHA:100 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopen... |
OMIM:152800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Podocyte foot ... |
OMIM:617006 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... |
OMIM:222470 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... |
ORPHA:443811 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, Hepatomegaly, Patent duct... |
OMIM:612541 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hyperkerat... |
ORPHA:2584 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Recurrent urinary... |
ORPHA:331235 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Abnormality of... |
ORPHA:572 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia, Inc... |
ORPHA:83313 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circul... |
OMIM:617388 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Spe... |
OMIM:605309 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Large for gestational age, Cryptorchidism, Hydronephrosis... |
OMIM:610733 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Tremor, Abnormal calf musculature morphology, Increased circulating IgG level, Freq... |
ORPHA:206594 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... |
OMIM:600802 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Curly hair, Sparse hair, Synophrys |
OMIM:620075 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Failure to th... |
OMIM:613179 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Increased circulating IgG4 level... |
ORPHA:449427 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Adrenal i... |
OMIM:617053 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Short stat... |
OMIM:242860 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... |
OMIM:258360 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig... |
OMIM:243700 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Postnatal growth r... |
OMIM:620603 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Dispr... |
ORPHA:508533 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Ataxia, Nephrocalcinosis, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymp... |
OMIM:616084 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, Intrauterine growth retardation, B lymphocytopenia, Micr... |
OMIM:615966 |
| Immunodeficiency 23 |
|
Ataxia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Myoclonus, Abscess, Eosi... |
OMIM:615816 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Recurrent urinary t... |
ORPHA:83471 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Renal insufficiency, Cryptorchidism, Ich... |
ORPHA:281090 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Adrenal insuf... |
OMIM:609981 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Chops Syndrome |
|
Coarse hair, Horseshoe kidney, Obesity, Long eyelashes, Vesicoureteral reflux, Splenomegaly, Cryp... |
OMIM:616368 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
| Noonan Syndrome 8 |
|
Failure to thrive, Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Curly... |
OMIM:615355 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormal femal... |
OMIM:193670 |
| Copper Deficiency, Familial Benign |
|
Anemia, Early balding, Failure to thrive, Curly hair |
OMIM:121270 |
| Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Ichthyosis, Splenomegaly, Hydronephrosis, Absent eyelashes, Low posterior hair... |
OMIM:115150 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... |
OMIM:616433 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Decreased specific anti-polysaccharide antibody ... |
OMIM:614576 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Disproportionate short-trunk short stat... |
OMIM:242900 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Hemiparesis, Abnormal lymphocyte phy... |
ORPHA:1830 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... |
ORPHA:169160 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia, Hyperkeratosis, Increased circulating antibody level |
ORPHA:90280 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Nephropathy, Decreased specific anti-polysaccharide antibody leve... |
OMIM:301000 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Large for gestational age, Diastasis recti, Cryptorchidism, Curl... |
ORPHA:457485 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Pancytopenia, Decre... |
OMIM:614700 |
| Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Alopecia of scalp, Sparse eyelashes, Palmo... |
OMIM:615280 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion |
OMIM:613885 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Clitoral hypertrophy, Failure to thrive, Intrauteri... |
OMIM:214110 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... |
OMIM:598500 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Thickened skin, Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesic... |
OMIM:617303 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased respo... |
ORPHA:293978 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Re... |
OMIM:620005 |
| Rift Valley Fever |
|
Hepatitis, Hemiparesis, Hematuria, Paralysis, Jaundice, Paraparesis, Thrombocytopenia, Anemia, In... |
ORPHA:319251 |
| Farber Disease |
|
Hepatic fibrosis, Spasticity, Skeletal muscle atrophy, Failure to thrive, Hepatosplenomegaly, Myo... |
ORPHA:333 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia |
OMIM:619693 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... |
OMIM:301045 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Hepatocellular carcinoma, De... |
OMIM:300755 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Decreased urinary urate, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal centra... |
ORPHA:760 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... |
OMIM:619774 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Exocrine pancreatic insufficiency, Long eye... |
OMIM:618268 |
| Naxos Disease |
|
Palmoplantar keratoderma, Acanthosis nigricans, Hyperhidrosis, Curly hair, Abnormality of hair te... |
ORPHA:34217 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai... |
OMIM:617237 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Increased... |
OMIM:256500 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Immunodeficiency 32B |
|
Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato... |
OMIM:226990 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Rhizo-meso-acromelic limb shortening, Thick eyebrow... |
ORPHA:163654 |
| Roifman Syndrome |
|
Prominent eyelashes, Postnatal growth retardation, Hepatosplenomegaly, Intrauterine growth retard... |
ORPHA:353298 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen... |
ORPHA:2643 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Knee flexion contr... |
ORPHA:320370 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... |
OMIM:614699 |
| Gaucher Disease, Type Iii |
|
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Thrombocytopen... |
OMIM:231000 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Albinism, Failure to thrive, Lymphopenia, Leuk... |
OMIM:242840 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level, Abnormal hair quantity |
ORPHA:1116 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Large for gestational age, Cryptorchidism, Curly hair, Sho... |
OMIM:611553 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abno... |
ORPHA:906 |
| Wolfram Syndrome 1 |
|
Hydroureter, Growth delay, Sideroblastic anemia, Tremor, Hydronephrosis, Neurogenic bladder, Mega... |
OMIM:222300 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... |
OMIM:602400 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Alopecia, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, ... |
OMIM:300100 |
| Cardiofaciocutaneous Syndrome 3 |
|
Failure to thrive, Hyperhidrosis, Curly hair, Short stature, Hyperkeratosis |
OMIM:615279 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Palmoplantar hyperhid... |
OMIM:270300 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Xerostomia, Fine hair, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
| Proteus Syndrome |
|
Lymphangioma, Hyperkeratosis, Splenomegaly |
OMIM:176920 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Arthrogryposis multiplex congenita, Small nail, Leukopenia, Intraut... |
OMIM:301056 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Rhabdomyosarcoma, Intrauterine growth retardation, Autoimmune... |
OMIM:251260 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations... |
OMIM:615157 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent urinary tract infections, Panhypogammaglobulinemia, Decreased re... |
OMIM:307200 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Unilateral renal agenesis, Reduced natural killer cell count, Decreased lymphocyte prolif... |
ORPHA:221139 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... |
OMIM:618223 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:616100 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Increased circulating IgE level, Abnormal mesentery morpho... |
ORPHA:449395 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Alopecia, Small for gestational age, Insulin-resistant diabetes mellit... |
ORPHA:2959 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Decreased pin... |
OMIM:301108 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Thickened skin, Type I diabetes mellitus, Hepatitis, Intrauterine growth reta... |
ORPHA:436252 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Curly hair, Cryptorchidism, Ataxia, Micropenis, Athetosis, Short stature |
OMIM:619435 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Spasticity, Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE... |
OMIM:618213 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Alopecia, Hepatitis, Failure to thrive, Increased circulating IgE level... |
OMIM:304790 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Hypogonadism, Hemiplegia/hemiparesis, Ataxia, Short stature |
ORPHA:2815 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... |
OMIM:620133 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Growth delay, Generalized hirsutism, Short stature, Hyperkeratosis |
ORPHA:2812 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... |
OMIM:617341 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor functio... |
ORPHA:275872 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Type II diabetes mellitus, Delayed puberty, Hyperkeratosis |
ORPHA:2297 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk... |
ORPHA:38 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand tremor, Hand muscle weakness, Incoordination, Distal lower limb amyotrophy, Distal upper lim... |
OMIM:302800 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Growth delay, Leukopenia, Splen... |
OMIM:604173 |
| Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Renal hypoplasia, Trichiasis, Failure to thrive, Lymphopenia, Intrauterine... |
OMIM:618460 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Growth delay, Fine hair, Prematur... |
OMIM:613990 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Failure to thrive, Abnormal vagina morphology, Exocrine pancreatic insufficiency, Intra... |
ORPHA:2315 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Myositis, Hep... |
OMIM:617591 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Woolly Hair Nevus |
|
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly ... |
ORPHA:79414 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Failure to thrive, Postnatal growth retardati... |
ORPHA:83617 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis |
OMIM:617756 |
| Leopard Syndrome 3 |
|
Growth delay, Low posterior hairline, Curly hair, Short stature, Hyperkeratosis, Epidermal hyperk... |
OMIM:613707 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Alopecia of scalp, Anonychia, Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Macdermot-Winter Syndrome |
|
Highly arched eyebrow, Camptodactyly of finger, Intrauterine growth retardation, Frontal upsweep ... |
OMIM:247990 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... |
ORPHA:90362 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Short stature, Tremor |
OMIM:312910 |
| O'Sullivan-Mcleod Syndrome |
|
Upper limb muscle weakness, Hand muscle weakness, Fasciculations, Tremor, Increased circulating a... |
ORPHA:99965 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Lymphopen... |
OMIM:617575 |
| X-Linked Adrenoleukodystrophy |
|
Leg muscle stiffness, Urinary bladder sphincter dysfunction, Incoordination, Abnormality of adren... |
ORPHA:43 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, ... |
OMIM:601495 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Acute mye... |
OMIM:617052 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Hydroureter, Cryptorchidism, Curly hair, Short stature |
OMIM:616559 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
| Candidiasis, Familial, 1 |
|
Alopecia, Cutaneous anergy, Abnormality of the endocrine system |
OMIM:114580 |
| Sialidosis Type 1 |
|
Aminoaciduria, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Increas... |
ORPHA:812 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, We... |
ORPHA:317 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Cerebral palsy, Oroticaciduria, Spastic ataxia, Paraparesis, Anemia, Spastic t... |
OMIM:620358 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergran... |
OMIM:615598 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormality of the... |
ORPHA:400 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased s... |
OMIM:201100 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... |
OMIM:619767 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, S... |
OMIM:618625 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Digeorge Syndrome |
|
Hepatic steatosis, Ovarian cyst, Hemiparesis, Patent ductus arteriosus, Renal dysplasia, Cholelit... |
OMIM:188400 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Hashimoto th... |
ORPHA:275 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... |
OMIM:613000 |
| Noonan Syndrome 2 |
|
Sparse eyebrow, Cryptorchidism, Low posterior hairline, Distal arthrogryposis, Short stature, Hyp... |
OMIM:605275 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Parakeratosi... |
ORPHA:398124 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Ichthyosis, Myopathy, Hematuria, Short stature, Thrombocytopenia, Anemia, As... |
OMIM:185070 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Spasticity, Failure to thrive, Hypertrichosis, Microcytic anemia, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Lead Poisoning |
|
Chronic kidney disease, Abnormality of humoral immunity, Small for gestational age, Decreased mal... |
ORPHA:330015 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Foot dorsiflexor weakness, Distal amyotrophy, Paraparesis, Upper limb muscle weakness |
OMIM:302802 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme... |
ORPHA:91139 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr... |
OMIM:615758 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume, Patent ductus arteriosus, Spast... |
OMIM:300048 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Hypoplasia of th... |
OMIM:617022 |
| Bloom Syndrome |
|
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, O... |
ORPHA:125 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Extrapyramidal dyskinesia |
OMIM:105550 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Spasticity, Lymphopenia, T lymphocytopenia, Progressive spastic quadriplegia, Hypothyroidism, Tub... |
OMIM:607944 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... |
ORPHA:1834 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Myoclonus, Clumsiness, Paraparesis, Lower limb spasticity, Ataxia, Bradykinesia, Hypo... |
OMIM:617854 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Sparse eyebrow, Spastic paraparesis, Highly arched eyebrow, Elbo... |
ORPHA:3132 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Small for gestational age, Horizontal eyebrow, Failure to thrive, Decr... |
OMIM:609757 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Mild intrauterine growth retardation, Slow-growing hair, Brittle ... |
OMIM:616943 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Abnormality ... |
ORPHA:2035 |
| Brucellosis |
|
Hypersplenism, Weight loss, Glomerulonephritis, Hepatomegaly, Epididymitis, Granuloma, Abnormalit... |
ORPHA:1304 |
| Noonan Syndrome 7 |
|
Large for gestational age, Low posterior hairline, Hyperhidrosis, Curly hair, Short stature, Grow... |
OMIM:613706 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody level, Jaun... |
ORPHA:2137 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Lymphopenia, Agammaglobulinemia, Anemia, Abnormality of the pancreas |
ORPHA:935 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Ataxia, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of... |
ORPHA:2891 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Paraparesis, Tremor, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Low ... |
OMIM:179613 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Failure to thrive, Abnormal fingernail morphology, Ridged nail, Absent toenai... |
ORPHA:89838 |
| Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Fine hair, Increased circulating IgE level, Abnormal hair morpholo... |
ORPHA:634 |
| Multiple Myeloma |
|
Nephropathy, Nephrotic syndrome, Acute kidney injury, Splenomegaly, Abnormality of the bladder, I... |
ORPHA:29073 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... |
OMIM:617099 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Macroglossia, Eosinophilia, Joint contracture of the hand |
OMIM:618523 |
| Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Palmoplantar hyperkeratosis, Curly hair |
OMIM:620411 |
| Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Anem... |
ORPHA:166113 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Recurrent urinary tract infections... |
OMIM:209920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Failure to thrive, Hypertonia, Curly hair, Short stature |
OMIM:300986 |
| Acquired Hypertrichosis Lanuginosa |
|
Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Weight... |
ORPHA:2221 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni... |
ORPHA:508542 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Skeletal muscle atrophy, Incoordination, Speech apraxia, Leukopenia, Leuko... |
ORPHA:297 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... |
ORPHA:30 |
| Donohue Syndrome |
|
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, ... |
OMIM:246200 |
| Trisomy 13 |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy... |
ORPHA:3378 |
| Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... |
ORPHA:189 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Intrauterine gro... |
OMIM:601186 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Hyperkeratosis, Thrombocytopenia |
ORPHA:454831 |
| Hydrolethalus |
|
Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Premature graying of hair, Microcytic anemia, ... |
OMIM:256040 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Absent pubertal growth spurt, Neonatal short-limb short stature, Fair hair, Fine ... |
OMIM:250250 |
| Familial Spontaneous Pneumothorax |
|
Abnormal pleura morphology, Pneumothorax |
ORPHA:2903 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM |
OMIM:617638 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Giant platelets, Failure to thrive in infancy, Postnatal growth retardation, Intraute... |
OMIM:611209 |
| Prolidase Deficiency |
|
Failure to thrive, Facial hirsutism, Splenomegaly, Increased circulating antibody level, Prolonge... |
OMIM:170100 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Congenital Myopathy 19 |
|
Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Cryptorchidism, Hydronephrosis, F... |
OMIM:618578 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cryptorchidism, ... |
OMIM:607721 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Growth delay, Hepatosplenomegaly, Pancytopenia, Hypersplenism... |
ORPHA:77259 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Decre... |
ORPHA:436159 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Abnormality of the kidney, Increased circulating IgG level |
ORPHA:284227 |
| Monosomy 22 |
|
Thickened skin, Contractures of the large joints, Hepatosplenomegaly, Scleroderma, Aplasia of the... |
ORPHA:96123 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| X-Linked Intellectual Disability, Schimke Type |
|
Ankle flexion contracture, Spasticity, Failure to thrive in infancy, Elbow flexion contracture, V... |
ORPHA:85285 |
| Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Intention tremor, Ovarian cyst, Ovarian carcino... |
OMIM:158350 |
| Alveolar Echinococcosis |
|
Abnormal mesentery morphology, Increased circulating antibody level, Hemiparesis, Abnormal spleen... |
ORPHA:284 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Cryptorchidism, Hip contracture, Curly hair, ... |
OMIM:619503 |
