| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Cutaneous abscess, Decreased proportion of CD8-positive T... |
OMIM:618204 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Immunodeficiency 48 |
|
Pneumonia, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte tra... |
OMIM:269840 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Abnormal lung morph... |
ORPHA:294975 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Lymphopenia, Abnormal circulating IgG lev... |
OMIM:615615 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... |
OMIM:619924 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... |
ORPHA:169154 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... |
OMIM:618459 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Jawad Syndrome |
|
Postaxial polydactyly, Aggressive behavior, Hallux valgus, 4-5 toe syndactyly, Absent fourth fing... |
OMIM:251255 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| 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 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphopenia, Decreased CD4:CD8... |
OMIM:615518 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... |
OMIM:603909 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ra... |
OMIM:607271 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... |
OMIM:618987 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| 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 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... |
OMIM:615767 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... |
OMIM:607594 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B ce... |
OMIM:613500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cel... |
OMIM:613501 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity |
ORPHA:85288 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... |
OMIM:619846 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8... |
ORPHA:911 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... |
OMIM:615607 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt... |
OMIM:619281 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Abnormal T... |
OMIM:612692 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Abnormal B cell morphology, Polydactyly, Agammaglobulinemia, Decreased circul... |
OMIM:616910 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Bronchiolitis, Polydactyly |
OMIM:615993 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Genu valg... |
ORPHA:65759 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydipsia, Polydactyly, Postaxial polydactyly, Polyphagia, Brachydac... |
OMIM:615986 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Recurrent upper respiratory tract infections, Recurrent pneumonia... |
OMIM:301000 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Phenylketonuria |
|
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Blue ir... |
OMIM:261600 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
| Selective Igm Deficiency |
|
Recurrent upper respiratory tract infections, Decreased proportion of transitional B cells, Recur... |
ORPHA:331235 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... |
OMIM:618394 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hyperactivity |
OMIM:615516 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Reduced delayed hypers... |
OMIM:242700 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, Aggressive behavior, 4-5 toe syndactyly, Self-mutilation |
OMIM:614970 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Recurrent respiratory infections, Brachydactyly, Short long bone |
OMIM:615633 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
ORPHA:276 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Pelger-Huet Anomaly |
|
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly,... |
OMIM:169400 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Polydipsia, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, P... |
OMIM:615994 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... |
ORPHA:443811 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
OMIM:617926 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Micromelia, Polydacty... |
OMIM:614091 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Polydactyly, Syndactyly |
OMIM:602501 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait |
ORPHA:544254 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Chronic bronchitis, Hypoplasia of the femoral head |
OMIM:616629 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypopla... |
OMIM:617895 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly |
OMIM:615996 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Choanal Atresia |
|
Choking episodes, Recurrent respiratory infections, Polydactyly |
ORPHA:137914 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:615758 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger |
OMIM:607131 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Recurrent pneumonia, Cutaneous abscess, Increased circulating ... |
OMIM:243700 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Compulsive behaviors, Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap |
OMIM:615761 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydacty... |
OMIM:615503 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent sinusitis, Agammaglobuli... |
OMIM:601495 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Brachydactyly, Recurrent respiratory ... |
OMIM:618950 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Polyphagia, Decreased proportion of CD4-positive helper T cells, Rec... |
ORPHA:66628 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility |
ORPHA:335 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Hypoxemia, Cyanosis |
ORPHA:2302 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Abnormal lung lobation, Distal ... |
OMIM:146510 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... |
OMIM:258860 |
| Idiopathic Pulmonary Fibrosis |
|
Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Polyphagia, Decreased proportion of CD4-positive helper T cells, Rec... |
ORPHA:179494 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly |
OMIM:614815 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Attenti... |
ORPHA:435638 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... |
OMIM:618142 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... |
OMIM:619721 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Polydactyly, Attention deficit hyperactivity disorder, Clinodacty... |
ORPHA:397590 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... |
OMIM:256800 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, ... |
ORPHA:404448 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... |
OMIM:614576 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... |
OMIM:614175 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... |
OMIM:617866 |
| Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:607361 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Polydactyly |
OMIM:613885 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Decreased circulating IgA level, Hepatosplenomegaly, Abnormal circulating IgG level, Leukocytosis... |
OMIM:620376 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydactyly, 2-3 toe syndac... |
ORPHA:404440 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia |
ORPHA:860 |
| Meckel Syndrome 14 |
|
Pulmonary hypoplasia, Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly... |
OMIM:619879 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly |
OMIM:611560 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Postaxial polydactyly, Overlapping toe, Tapered finger |
OMIM:613792 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Houge-Janssens Syndrome 2 |
|
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia |
OMIM:616362 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... |
OMIM:277170 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hypoplasia, Postaxial ... |
OMIM:616300 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Respiratory tract infection, Polydactyly |
ORPHA:93400 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Legius Syndrome |
|
Acute monocytic leukemia, Polydactyly, Attention deficit hyperactivity disorder, Non-small cell l... |
ORPHA:137605 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Preaxial polydactyly, Self-mutilation, Stereotypical hand wringing, Ski... |
ORPHA:163681 |
| Tarp Syndrome |
|
Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ... |
OMIM:311900 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Overfriendliness, Postaxial polydactyly, Postaxial hand p... |
OMIM:174300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Aggressive behavior, Hyperactivity |
OMIM:615824 |
| Tarp Syndrome |
|
Clinodactyly, Finger syndactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Sin... |
ORPHA:2886 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
| Sepsis In Premature Infants |
|
Cyanosis, Jaundice, Purpura, Petechiae |
ORPHA:90051 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... |
OMIM:612651 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Cyanosis, Hypoxemia |
ORPHA:2038 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Bruxism, Genu valg... |
OMIM:615873 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Peripheral pulmonary artery stenosis, 2-4 toe syndactyly, Sandal gap, 2-3 toe syndact... |
OMIM:614099 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Recurrent respiratory infections, Rhizomelic arm shortening, Proximal femo... |
ORPHA:397715 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia |
ORPHA:555874 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis |
OMIM:265120 |
| Necrotizing Enterocolitis |
|
Cyanosis |
ORPHA:391673 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Rhombencephalosynapsis |
|
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly |
ORPHA:59315 |
| Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
| Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Acute ly... |
ORPHA:125 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... |
ORPHA:2754 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... |
OMIM:247200 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Postaxial polydactyly, Hip dysplasia, Recurrent respiratory infections, Short foot, H... |
OMIM:300968 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Leukemia, Dislocated radial head, Synda... |
OMIM:180849 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Neonatal death, Fibular hypoplasia, Postaxial polydactyly, Nar... |
OMIM:617925 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis |
OMIM:610921 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Cutis marmorata, Purpura, Urticaria |
ORPHA:183 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... |
OMIM:209900 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Lymphopenia, Postaxial polydactyly, Neutropenia, Anemia, Dysphagia |
OMIM:618460 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... |
OMIM:302960 |
| Degcags Syndrome |
|
Pneumonia, Toe syndactyly, Short thumb, Oral-pharyngeal dysphagia, Preaxial hand polydactyly, Hep... |
OMIM:619488 |
| Kinsship Syndrome |
|
Bruxism, Single transverse palmar crease, Fibular hypoplasia, Polydactyly, Coxa valga, Dislocated... |
OMIM:619297 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... |
OMIM:617527 |
| Cardiogenic Shock |
|
Cyanosis, Hypoxemia |
ORPHA:97292 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Preaxial polydactyly, Postaxial polydactyly, Pulmonary hypoplasia |
OMIM:616546 |
| Mend Syndrome |
|
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Hyperactivit... |
OMIM:300960 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Polydactyly, Aggressive behavior, Recurrent respiratory infections, Short femur |
ORPHA:17 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis |
OMIM:620423 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Cranioectodermal Dysplasia 2 |
|
Recurrent pneumonia, Rhizomelia, Clinodactyly, Polysplenia, Splenomegaly, Polydactyly, Brachydact... |
OMIM:613610 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Pneumonia, Broad distal phalanx of finger, Broad thumb, Abnormal fear-in... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Pneumonia, Broad distal phalanx of finger, Broad thumb, Abnormal fear-in... |
ORPHA:353277 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Hyperactivity, Clinodactyly of the 5t... |
ORPHA:464306 |
| Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodac... |
OMIM:249000 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis |
OMIM:617478 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... |
OMIM:210710 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... |
OMIM:610655 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Hypoxemia, Cyanosis |
ORPHA:60025 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... |
OMIM:109400 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Poems Syndrome |
|
Acrocyanosis, Plethora |
ORPHA:2905 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Abnormal lung lobatio... |
ORPHA:672 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis |
OMIM:252010 |
| Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Joubert Syndrome 14 |
|
Postaxial polydactyly |
OMIM:614424 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly |
OMIM:311200 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, 2-4 toe cutaneous syndactyly, Stereotypical hand wringing, Polydactyly, Aggressive... |
ORPHA:268261 |
| Stromme Syndrome |
|
Accessory spleen, Preaxial polydactyly, Stillbirth |
OMIM:243605 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis |
ORPHA:137675 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Attention deficit hyperactivity disorder, Deep palmar cre... |
OMIM:616580 |
| Alstrom Syndrome |
|
Elevated hemoglobin A1c, Recurrent pneumonia, Polydactyly |
OMIM:203800 |
| Carpenter Syndrome 2 |
|
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ... |
OMIM:614976 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... |
OMIM:187300 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hyperactivity, Polydactyly |
ORPHA:77301 |
| Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Polydactyly |
ORPHA:769 |
| Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hyperactivity, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:457284 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Total anomalous pulmonary venous return, Broad thumb, Polysplenia... |
OMIM:312870 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Joint contracture of the hand, Spontaneous pneumothorax, Absent distal... |
OMIM:610168 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Absence Of The Pulmonary Artery |
|
Hypocapnia, Cyanosis |
ORPHA:980 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis |
OMIM:306955 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Splenomegaly, Postaxial polydactyly, Short clavicles, Brachydactyly, Short... |
OMIM:617088 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... |
ORPHA:740 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Charge Syndrome |
|
Bifid femur, Abnormal tibia morphology, Polydactyly, Attention deficit hyperactivity disorder, Br... |
ORPHA:138 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Joint contracture of the 5th finger |
OMIM:619562 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ... |
ORPHA:221 |
| Postinfectious Vasculitis |
|
Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin |
ORPHA:48435 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C... |
ORPHA:480880 |
| Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Polydactyly |
OMIM:301022 |
| Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Bruxism, Talipes equinovarus, Hip dysplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Bruxism, Talipes equinovarus, Hip dysplasia |
ORPHA:352665 |
| Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis |
ORPHA:51 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... |
OMIM:149730 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Pulmonary artery dilatation, Splenomegaly, Neonatal death, Broad first metatarsal, P... |
OMIM:619534 |
| Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:605627 |
| Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... |
ORPHA:287 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial ... |
OMIM:609192 |
| Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... |
OMIM:607932 |
| Faciocardiomelic Syndrome |
|
Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
| Vater/Vacterl Association |
|
Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ... |
OMIM:192350 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Syndactyly |
OMIM:619869 |
| Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Okamoto Syndrome |
|
Hip dysplasia, Splenomegaly, Polydactyly |
ORPHA:2729 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin... |
ORPHA:110 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
| Orofaciodigital Syndrome Xiv |
|
Preaxial polydactyly, Broad hallux, Postaxial hand polydactyly |
OMIM:615948 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal digit morphology, Polydactyly |
ORPHA:95494 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Bruising susceptibility |
ORPHA:285 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |
