Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Syndactyly Type 2 |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Syndacty... |
ORPHA:294975 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Syndactyly, Type Iv |
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2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Hyperlysinemia, Type I |
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Anemia, Hyperactivity |
OMIM:238700 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Triphalangeal Thumb, Nonopposable |
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Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Thrombocytopenia, Cyclic |
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Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Meckel Syndrome, Type 11 |
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Oligohydramnios, Occipital encephalocele, Polydactyly |
OMIM:615397 |
Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Camptosynpolydactyly, Complex |
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Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Diamond-Blackfan Anemia 18 |
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Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Santos Syndrome |
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Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Lymphopenia, Neutropenia |
OMIM:614868 |
Polydactyly, Postaxial, Type A1 |
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Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Carpenter Syndrome |
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Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
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Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Polydactyly, Preaxial Iv |
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1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Jawad Syndrome |
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Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Encephalocele, Talipes equinovarus, Polydactyly |
OMIM:613885 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Mend Syndrome |
|
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, P... |
OMIM:300960 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... |
OMIM:607361 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Meckel Syndrome, Type 2 |
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Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, Ence... |
OMIM:603194 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Attention deficit hyperactivity disorder, Anemia, Thrombocy... |
OMIM:619151 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Meckel Syndrome, Type 10 |
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Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... |
OMIM:614175 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... |
ORPHA:859 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Syndactyly, Polydactyly |
OMIM:602501 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Neutr... |
OMIM:193670 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:614470 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
46,Xy Sex Reversal 3 |
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Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Brachydactyly, Central Y-shaped metacarpal, Cl... |
OMIM:277170 |
Orofaciodigital Syndrome Xvii |
|
Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydactyly, Tetral... |
OMIM:617926 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Polydactyly, Camptodactyly |
OMIM:614815 |
Acromelic Frontonasal Dysostosis |
|
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Encephalocele |
OMIM:603671 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Situs inversus t... |
OMIM:615994 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... |
ORPHA:755 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, Umbilical h... |
OMIM:169400 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Preaxial hand polydactyly, Broad hallux phalanx, Broad thumb, Exencephaly, Finger ... |
ORPHA:2211 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Encephalocele, Genu valgum, Postaxial polydactyly |
OMIM:611560 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Preaxial polydactyly, Hydrops fetalis... |
OMIM:616546 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polyd... |
OMIM:611134 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... |
OMIM:618142 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Broad hallux, Complete atrioventricular can... |
OMIM:217095 |
Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... |
ORPHA:397590 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Oc... |
OMIM:611561 |
Meckel Syndrome 14 |
|
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Syndactyly, Postaxial hand polydactyl... |
OMIM:619879 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Carpal synostosis, Flared il... |
ORPHA:90652 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... |
ORPHA:1505 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Hypoplastic left hea... |
OMIM:619721 |
Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios, Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Ulnar deviation of the hand, Postaxial polydactyly, Holoprosencephaly, Preaxial po... |
OMIM:612651 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Polydactyly, Edema, Umbilical hernia, Ascites, Abnormal heart morphology |
ORPHA:93400 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Occipital encephalocele, Hypoplastic left heart, Postaxial p... |
OMIM:619562 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Joubert Syndrome 14 |
|
Hydrocephalus, Postaxial polydactyly, Encephalocele |
OMIM:614424 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Hydrops fetalis, Micromelia, Polydactyly, ... |
OMIM:614091 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Mi... |
OMIM:617866 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Brachydactyly, Short long bone, Postaxial polydactyly |
OMIM:615633 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Micropenis |
OMIM:618504 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... |
ORPHA:90797 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Postaxial polydactyly |
OMIM:603387 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar... |
OMIM:607323 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux, Hip dysplasia |
OMIM:616362 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... |
ORPHA:760 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... |
ORPHA:435638 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Polydactyly, Clinodactyly of the 5th finger, Hypoplastic left... |
OMIM:301022 |
Au-Kline Syndrome |
|
Overlapping toe, Deep palmar crease, Hip dysplasia, Postaxial polydactyly |
OMIM:616580 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... |
OMIM:619142 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Brachydactyly, Polydactyly, Ventricular septal defect, Single transverse pa... |
OMIM:618950 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, Patent duc... |
OMIM:614576 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... |
OMIM:615503 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Brachydactyly, Syn... |
OMIM:617895 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand polydactyly, ... |
OMIM:258860 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... |
OMIM:617575 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Abnormal B ce... |
ORPHA:331206 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
Rhombencephalosynapsis |
|
Hydrocephalus, Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finge... |
ORPHA:59315 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Short distal phalanx of the thumb, Irregular ossification of hand bones, Down-slop... |
OMIM:109400 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... |
ORPHA:83628 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Postaxial polydactyly |
OMIM:617757 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, Uterus didelphys, Se... |
OMIM:146255 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, Atrioventricular canal defect |
OMIM:613792 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia |
OMIM:601076 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
20P13 Microdeletion Syndrome |
|
Clinodactyly, Brachydactyly, Polydactyly, Finger syndactyly |
ORPHA:313781 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis... |
OMIM:619644 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Anemia, Liver abscess, Abnormal testis morphology |
ORPHA:54251 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Tarp Syndrome |
|
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Deep palmar ... |
OMIM:311900 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
47,Xyy Syndrome |
|
Hyperactivity, Micropenis, Hypospadias, Oligospermia, Varicocele, Attention deficit hyperactivity... |
ORPHA:8 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial polydactyly, Broad distal phalanx of finger, Ventricular septal def... |
ORPHA:404440 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... |
ORPHA:3109 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pelvis, Rhizomelia, Patent ductus arteri... |
OMIM:616300 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Abnormal heart morphology |
ORPHA:531151 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia |
ORPHA:391307 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Abnormally low T cell receptor ... |
ORPHA:276 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Hematuria, Acute kidney injury, Anemia, Thrombocytopenia |
ORPHA:91547 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... |
ORPHA:65681 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Brachydactyly, Polydactyly, Syndactyly, Clinodactyly, Radial dev... |
OMIM:311200 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Pseudoaminopterin Syndrome |
|
Overlapping toe, Hydrocephalus, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyl... |
ORPHA:221120 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Postaxial polydactyly, Abnormal 5th metacarpal morphology, Cone-shaped... |
ORPHA:397715 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... |
OMIM:242900 |
Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Syndactyly, Mesoaxial polydactyly, Cent... |
ORPHA:2754 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Postaxial polydactyly, Camptodactyly of finger... |
OMIM:249000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
Mirage Syndrome |
|
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Hypoplastic... |
OMIM:617053 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Per... |
OMIM:618935 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Rubinstein-Taybi Syndrome 1 |
|
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Broad hallu... |
OMIM:180849 |
Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Tetralogy of Fallot, Radioulnar synos... |
OMIM:192350 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal potassium wasting, Hyperactivity, Renal magnesium wasting |
OMIM:618314 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia |
OMIM:617466 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidney dysplasia, Aplasia... |
ORPHA:2237 |
Oeis Complex |
|
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Polydactyly, Umbilical hernia, Palmar pits, Cardiac fibroma |
ORPHA:77301 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Hem... |
OMIM:302960 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Macroorchidism |
ORPHA:85327 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Oligohydramnios, Postaxial polydactyly |
OMIM:615824 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616100 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, 2-3 toe syndactyly, Atrial septal defect, Preaxial polydactyly, Aplasia/Hypop... |
OMIM:617063 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H... |
OMIM:612541 |
Miller-Dieker Lissencephaly Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Deep palmar crease, Polydactyly, C... |
OMIM:247200 |
Adnp Syndrome |
|
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Brachydactyly, Polydactyly, Single... |
ORPHA:404448 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Aplasia of the thymus, Seve... |
OMIM:102700 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Umbilical hernia, Polydactyly affecting... |
ORPHA:672 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly |
ORPHA:829 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder... |
OMIM:614083 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Abnormal heart morphology |
ORPHA:314655 |
Orofaciodigital Syndrome V |
|
Postaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Postaxial hand polydactyly... |
OMIM:174300 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Postaxial polydactyly, Small hand, Tapered finger, Patent ductus arteriosus... |
OMIM:300968 |
Bardet-Biedl Syndrome 1 |
|
Postaxial polydactyly, Left ventricular hypertrophy, Brachydactyly, Syndactyly, Postaxial hand po... |
OMIM:209900 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney |
ORPHA:3320 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Tarp Syndrome |
|
Hypoplasia of proximal radius, Short sternum, Atrial septal defect, Talipes equinovarus, Postaxia... |
ORPHA:2886 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... |
OMIM:613179 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Joint contractur... |
OMIM:610168 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly, Encephalocele |
OMIM:605627 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Renal hypoplas... |
OMIM:614527 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
Carpenter Syndrome 2 |
|
Coxa vara, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:614976 |
Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Left ventricular hypertrophy, Hydrops fetalis, Brachydactyly, Polydactyly, ... |
OMIM:613610 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Aortic valve stenosis, Arachnodactyly, Polydactyly, Ventricular s... |
ORPHA:464306 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Atrial septal defect, Postaxial polydactyly, Postaxial hand polydactyly, Prea... |
OMIM:619471 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short tibia, Hypoplast... |
OMIM:617925 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Acute monocytic ... |
ORPHA:137605 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis |
OMIM:617099 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, General... |
OMIM:619534 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Hemolytic anemia, N... |
OMIM:615816 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Short sternum, 2-3 finger syndactyly, Ventricular septal defect, Umbilical hernia,... |
OMIM:312870 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
Stromme Syndrome |
|
Preaxial polydactyly, Hydrocephalus, Stillbirth |
OMIM:243605 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Macrocytic anemia, Dilatation of renal calices, Attention deficit hyperactivity di... |
OMIM:614294 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Hyperactivity |
ORPHA:457284 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Holoprosencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventricular... |
OMIM:615948 |
Microphthalmia, Syndromic 9 |
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Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Renal hypoplasia, Horseshoe k... |
OMIM:601186 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Khan-Khan-Katsanis Syndrome |
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Postaxial polydactyly, Patent ductus arteriosus, Clinodactyly, Patent foramen ovale, Abnormal hea... |
OMIM:618460 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Abscess, Hepatomegaly, Neutrophilia, Splenomegaly |
OMIM:612852 |
Seckel Syndrome 7 |
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Hypoplasia of the uterus |
OMIM:614851 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
Exstrophy-Epispadias Complex |
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Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... |
ORPHA:322 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus |
OMIM:600705 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Palmoplantar hyperhidrosis, Postaxial polydactyly, Long fingers, Single transverse palmar crease,... |
OMIM:617527 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Postaxial polydactyly, Ventricu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Postaxial polydactyly, Ventricu... |
ORPHA:352665 |
Renal Cysts And Diabetes Syndrome |
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Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Unilateral re... |
OMIM:137920 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:617591 |
Thrombocytopenia-Absent Radius Syndrome |
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Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Aplasia o... |
OMIM:274000 |
Whim Syndrome |
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Lymphopenia, Cervix cancer, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
Histidinemia |
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Histidinuria, Hyperactivity |
ORPHA:2157 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Short clavicles, Postaxial polydactyly, Atrioventricular canal defect, Cone-shaped epiphysis, Bra... |
OMIM:617088 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Abnormal pulmonary valve morphology, Aortic valve stenosis, Abnormality of toe, Polydactyly, Tape... |
ORPHA:268261 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short femur, Abnormal mitochondrial shape, Short humerus, Polydactyly, Patent ductus arteriosus, ... |
ORPHA:17 |
Familial Mediterranean Fever |
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Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Stage 5 chr... |
OMIM:249100 |
Senior-Loken Syndrome 8 |
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Polydactyly |
OMIM:616307 |
Kinsship Syndrome |
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Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Fibular hypoplas... |
OMIM:619297 |
Ataxia-Telangiectasia |
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Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... |
OMIM:208900 |
Rabson-Mendenhall Syndrome |
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Ventricular septal defect, Polydactyly, Atrial septal defect, Cardiomyopathy |
ORPHA:769 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... |
OMIM:301000 |
Cranioectodermal Dysplasia 3 |
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Brachydactyly, Syndactyly, Sandal gap, Postaxial polydactyly |
OMIM:614099 |
Degcags Syndrome |
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Atrial septal defect, Talipes equinovarus, Dysplastic pulmonary valve, Pulmonic stenosis, Syndact... |
OMIM:619488 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Sweet Syndrome |
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Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... |
ORPHA:3243 |
Popliteal Pterygium Syndrome |
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Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Estrogen Resistance Syndrome |
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Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
Pontocerebellar Hypoplasia Type 7 |
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Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Adducted thumb, Pulmonic sten... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Adducted thumb, Pulmonic sten... |
ORPHA:353277 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia |
OMIM:127550 |
Neurocardiofaciodigital Syndrome |
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Double inlet left ventricle, Atrial septal defect, Syndactyly, Polydactyly, Tetralogy of Fallot, ... |
OMIM:619869 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Nephropathy, Hemolytic ane... |
ORPHA:906 |
Cardiac-Urogenital Syndrome |
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Micropenis, Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Enlarged kidney, Ambiguou... |
OMIM:618280 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Hyper-Igd Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... |
OMIM:260920 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphocytes, Decre... |
OMIM:600903 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Hypoplasia of the uterus, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Gonad... |
OMIM:618419 |
Choanal Atresia |
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Polydactyly |
ORPHA:137914 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly |
ORPHA:163681 |
Faciocardiomelic Syndrome |
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Hypoplastic pelvis, Common atrium, Polydactyly, Slender long bone |
OMIM:612731 |
3Mc Syndrome 3 |
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Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
Okamoto Syndrome |
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Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Polydactyly... |
ORPHA:2729 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Acromesomelic Dysplasia 3 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Overlapping toe, Atrial septal defect, Curved fingers, Slender finger, Postaxial polydactyly, Sma... |
ORPHA:480880 |
Coffin-Siris Syndrome 9 |
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Hypoplasia of the uterus |
OMIM:615866 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
Lacrimoauriculodentodigital Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... |
OMIM:149730 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Streak ovary, Micropenis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Hydronephrosis |
OMIM:236680 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Culler-Jones Syndrome |
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Postaxial polydactyly |
OMIM:615849 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Hypospadias, Bifid uterus, Multicystic kidney dysplasia, Rectoperineal fistula, Re... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Anemia |
OMIM:130050 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Abnormal digit morphology, Polydactyly, Holoprosencephaly |
ORPHA:95494 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Leukopenia, Hematuria, Epididym... |
ORPHA:99827 |
Microphthalmia, Syndromic 6 |
|
Flexion contracture of thumb, Clinodactyly of the 5th finger, Abnormality of the hand, Brachydact... |
OMIM:607932 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Clitoral hypertrophy, Ectopic kidney, Hydronephrosis,... |
OMIM:135900 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism |
OMIM:194190 |
Yellow Fever |
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Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Renal insufficiency, Acute kidney injury, Thr... |
ORPHA:99829 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Norrie Disease |
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Cryptorchidism, Attention deficit hyperactivity disorder, Uterine rupture |
ORPHA:649 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary |
ORPHA:572333 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Renovascular hyp... |
ORPHA:286 |
Peters-Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Ureteral duplication, Clitoral h... |
OMIM:261540 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Multicystic kidney dysplasia, Ureteral duplication, Clitor... |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Labial hypoplasia, Hypospadias, Renal cyst, Aplasia of the upper vagina, Hypoplastic labia majora... |
OMIM:601803 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Broad hallux, Postaxial hand polydactyly, Patent ductus arteriosus, Po... |
ORPHA:434179 |