Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Abnormality of the ovary |
ORPHA:1875 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El... |
OMIM:615559 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:618944 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Kyphosis, Gait disturbance, Scoliosis |
OMIM:611225 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Progressive psychomotor deterioration, Motor deteri... |
ORPHA:796 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Cognitive impairment, Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Familial Isolated Dilated Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Abnormality of neutrophils |
ORPHA:154 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia |
ORPHA:79312 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... |
OMIM:616756 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Short neck, Cryptorchidism, Kyphosis, Inability to walk, Scoliosis, Difficulty walking,... |
OMIM:611890 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating ferritin concen... |
ORPHA:540 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Spinocerebellar Ataxia 32 |
|
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch... |
OMIM:301900 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Irritability, Dystonia, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:618237 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Neonatal death, Short neck |
OMIM:618393 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis |
OMIM:300718 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Kyphoscoliosis, Tremor, Abnormal fear-induced behavior, Irritab... |
ORPHA:3077 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second... |
ORPHA:3085 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis |
ORPHA:1548 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:617087 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis |
OMIM:617404 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Agammaglobulinemia, Hypocalcemia, Neutropenia, Thr... |
ORPHA:47 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Hand tremor, Dementia, Infertility, Scoliosis, Head tremor, Mental deterioration, Upper... |
OMIM:614409 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Kyphosis, Dysmetria, Scoliosis, Abnormality of the cervica... |
ORPHA:48431 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia |
OMIM:606054 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Satoyoshi Syndrome |
|
Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural... |
OMIM:608233 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Attention deficit hyperactivity disorder |
OMIM:620007 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Ky... |
OMIM:300280 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, M... |
ORPHA:3226 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitr... |
ORPHA:324410 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Neutropenia |
OMIM:618253 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Attention deficit hyperactivity d... |
ORPHA:352490 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Hypogonadism, Delayed puberty, Emotio... |
OMIM:300354 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Steppage gait, Tip-toe gait, Scoliosis |
OMIM:615290 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperlipidemia, Decre... |
ORPHA:1830 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Gait disturbance, Cognitive impairment, Dystonia |
OMIM:614898 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... |
OMIM:300755 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Progressive neurologic deterioration, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis, De... |
OMIM:615433 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Cognitive impairment, Thrombocytopenia |
ORPHA:858 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Inability to walk, Kyph... |
OMIM:128100 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Increased serum serotonin |
ORPHA:85288 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Hypoalbuminemia, Bone marrow h... |
OMIM:617303 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone ma... |
OMIM:619151 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:604173 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Falls, Difficulty walking,... |
ORPHA:3198 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased... |
OMIM:603553 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis, Depression |
ORPHA:276630 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia... |
OMIM:277380 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Difficulty walking, Gait disturbance, Scoliosis |
ORPHA:505652 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251100 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Masa Syndrome |
|
Kyphosis, Shuffling gait, Hyperlordosis |
OMIM:303350 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Bradykinesia, Scoliosis, Dystonia |
OMIM:617435 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Felty Syndrome |
|
Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T... |
ORPHA:47612 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis |
ORPHA:87876 |
Vici Syndrome |
|
Decreased circulating IgG level, Elevated circulating creatine kinase concentration, Decreased ci... |
OMIM:242840 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Ovoid thoracolumb... |
OMIM:252920 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemol... |
ORPHA:2330 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Tremor... |
OMIM:222300 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... |
ORPHA:397596 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... |
ORPHA:2311 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation |
OMIM:618124 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:616271 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis |
OMIM:618392 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism |
OMIM:618484 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn... |
ORPHA:247768 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism |
ORPHA:2617 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:90051 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2429 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dilate... |
OMIM:615084 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Car... |
OMIM:230000 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Dystonia, Ataxia, Puberty and gonadal disorders, Kyphosis, Unsteady gait, Scoliosi... |
ORPHA:464282 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ventricular septal defect, Ataxia, Hyperlordosis, Tremor, Kyphosis, Splenom... |
ORPHA:354 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Atypical Rett Syndrome |
|
Tremor, Kyphosis, Inability to walk, Gait ataxia, Pill-rolling tremor, Gait disturbance, Scoliosi... |
ORPHA:3095 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... |
OMIM:305400 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Ck Syndrome |
|
Kyphosis, Irritability, Scoliosis, Hyperlordosis |
OMIM:300831 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... |
OMIM:256550 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... |
OMIM:158350 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619797 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... |
ORPHA:64755 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hypertrophic cardiomyopathy, Scoliosis, Hepatomegaly |
OMIM:618234 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Cognitive impairment, Atrial sept... |
ORPHA:3378 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Acquired Purpura Fulminans |
|
Thrombocytopenia, Prolonged prothrombin time, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Hypoalbumi... |
ORPHA:64743 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... |
OMIM:615108 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... |
ORPHA:465508 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... |
ORPHA:2232 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Mental deterioration, Hypertr... |
OMIM:619051 |
Ruvalcaba Syndrome |
|
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism |
OMIM:180870 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... |
OMIM:615109 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal cardiac septum morpho... |
ORPHA:2075 |
Mogs-Cdg |
|
Atrial septal defect, Thoracic scoliosis, Hepatomegaly, External genital hypoplasia, Cardiomegaly... |
ORPHA:79330 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Confusion, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hype... |
OMIM:212140 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Limb dystonia |
ORPHA:319199 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... |
ORPHA:2522 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Scoliosis, T... |
ORPHA:3320 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Prolonged bleeding time, Abnormal eosinophil morphology, Microcytic anemia, Thr... |
ORPHA:906 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Hyperammonemia, Neutropenia |
OMIM:615471 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Atrial septal defect, Lethargy, ... |
ORPHA:398069 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Dystonia |
OMIM:619255 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... |
OMIM:239850 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Kyphosis, Exaggerated startle response, Scoliosis |
OMIM:609541 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Opisthotonus, Depression, ... |
OMIM:184850 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, ... |
ORPHA:812 |
Schaaf-Yang Syndrome |
|
Kyphosis, Cryptorchidism, Inability to walk, Hypogonadism, Scoliosis, Micropenis |
OMIM:615547 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... |
OMIM:230500 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-toe gait, S... |
OMIM:607155 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Depression, Bradykinesia, Tr... |
ORPHA:97349 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... |
ORPHA:94065 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... |
OMIM:268800 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Cardiomegaly, Short... |
OMIM:617022 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosis, Difficulty walking, ... |
ORPHA:90322 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopathy, Impotence, Dementia, Trunca... |
OMIM:105210 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Marinesco-Sjogren Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:248800 |
Flynn-Aird Syndrome |
|
Ataxia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Dementia, Type... |
ORPHA:2047 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism |
ORPHA:3409 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism |
OMIM:615381 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Short neck, Abno... |
ORPHA:7 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis |
ORPHA:75840 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Hypoplastic labia majora, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus |
OMIM:601076 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Type II diabetes mellitus, Scoliosis |
ORPHA:61 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Mental deterioration, De... |
OMIM:219080 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... |
ORPHA:85451 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Attent... |
ORPHA:404440 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, Gait d... |
OMIM:619259 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive impairment, Pulmonic stenosis |
ORPHA:3098 |
Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Precocious puberty, Inability to walk, Tremor... |
ORPHA:845 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Atrioventricula... |
OMIM:619123 |
Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Prolonged prothrombin time, Dec... |
ORPHA:99901 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl... |
OMIM:616897 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrh... |
OMIM:157640 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordos... |
OMIM:253000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:600649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty walking |
OMIM:606612 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Hyperuricemia, Neutropenia |
OMIM:232220 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry... |
ORPHA:3097 |
Diastrophic Dysplasia |
|
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Cogn... |
ORPHA:583 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Kyphosis, Dystonia, Gait ataxia |
ORPHA:500180 |
Srd5A3-Cdg |
|
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor... |
ORPHA:324737 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Kyphos... |
OMIM:609029 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... |
OMIM:300967 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... |
ORPHA:77259 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly |
OMIM:614702 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Scoliosi... |
ORPHA:3191 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Kyphosis |
OMIM:619040 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Scoliosis, Leukemi... |
OMIM:619951 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch... |
OMIM:608643 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... |
ORPHA:98855 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:2916 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Kyphosis, Cryptorchidism,... |
ORPHA:254346 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck |
ORPHA:3082 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Tip-toe gait, Gai... |
ORPHA:98863 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... |
OMIM:300942 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... |
ORPHA:98853 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Short neck, Tremor, Kyphosis, Hypogonadism, Scoliosis, Dec... |
ORPHA:85293 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Cryptorchidism, Inability to walk, Gait disturbance, Scoliosis |
OMIM:618143 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Rectovaginal fistula, Dystonia, Lymphopenia, Intent... |
OMIM:619708 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Choreoathetosis, Dystonia, Loss of ambulation, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... |
OMIM:271520 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Elevated circula... |
ORPHA:79282 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... |
ORPHA:50918 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Rett Syndrome |
|
Dystonia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Motor deterioration |
OMIM:312750 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Micropenis |
OMIM:248700 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism... |
OMIM:209900 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Splenomegaly, Hepatos... |
OMIM:608013 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Autosomal Recessive Ataxia, Beauce Type |
|
Short attention span, Ataxia, Kyphosis, Dysmetria, Gait disturbance, Arm dystonia, Scoliosis |
ORPHA:88644 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Lethargy, Cardiomegaly |
ORPHA:42 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level |
ORPHA:35706 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis |
ORPHA:536516 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response, Scoliosis |
ORPHA:320406 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis |
OMIM:618138 |
Leigh Syndrome |
|
Hyperalaninemia, Anemia, Neutropenia |
ORPHA:506 |
Noonan Syndrome 14 |
|
Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... |
OMIM:619745 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, S... |
OMIM:617988 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Dystonia |
ORPHA:702 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse |
ORPHA:137834 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... |
OMIM:603903 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... |
ORPHA:699 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Kyphosis, Platyspondyly, Cognitive impairment |
ORPHA:93274 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia |
ORPHA:3344 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck |
OMIM:613320 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Trisomy 20P |
|
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... |
ORPHA:261318 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:2789 |
Alstrom Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:203800 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Mental deterioration, Kyphosis, Generalized dystonia, Scoliosis |
ORPHA:79107 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Crisponi Syndrome |
|
Cognitive impairment, Kyphosis, Scoliosis |
ORPHA:1545 |
Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypothyroidism |
ORPHA:349 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unstea... |
OMIM:618443 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... |
OMIM:301040 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a... |
OMIM:617049 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Kyphosis, Splenomegaly, Unsteady ... |
OMIM:615512 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Decreased circ... |
ORPHA:293978 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Atax... |
OMIM:212065 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Kyphosis, Hypoplastic labia minora, Clitoral hypoplasia, Sco... |
ORPHA:2510 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Cardiomegaly, Inability to walk, Hyperlordosis, Tip-toe gait, Right ventricular ... |
ORPHA:268 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment... |
ORPHA:96169 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... |
ORPHA:314588 |
Harrod Syndrome |
|
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism |
ORPHA:2115 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... |
ORPHA:261250 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:181405 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Cryptorchidism, Hypogonadism, Gait disturbance, Scoliosis, Attention deficit hyperactiv... |
ORPHA:500055 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... |
ORPHA:392 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Trichothiodystrophy |
|
Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Cognitive impairment, Kyphosis, Scoliosis |
ORPHA:1883 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Oeis Complex |
|
Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Sac... |
OMIM:258040 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Enlarged kidney |
OMIM:618272 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Paroxysmal dystonia |
OMIM:619909 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Tremor, Kyphosis, Scoliosis, Attention deficit hyperactivity disorder,... |
OMIM:617061 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... |
OMIM:253220 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... |
ORPHA:1724 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... |
ORPHA:958 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper... |
OMIM:616449 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Micropenis, Scoliosis, Cryptorchidism |
ORPHA:364028 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Typical Nemaline Myopathy |
|
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis |
ORPHA:171436 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Opisthotonus, Choreoathetosis, Dystonia, Testicular atrophy |
OMIM:300322 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Tremor, Depre... |
ORPHA:58 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... |
ORPHA:1517 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Trans... |
OMIM:253800 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Dystonia, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Chronic ... |
ORPHA:51 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Beck-Fahrner Syndrome |
|
Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... |
OMIM:619718 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis |
ORPHA:88628 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... |
OMIM:130720 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... |
OMIM:253010 |
Hurler Syndrome |
|
Hepatomegaly, Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid proces... |
OMIM:607014 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Refsum Disease, Classic |
|
Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:266500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect |
OMIM:617602 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, P... |
ORPHA:79255 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Atrial septal defect, Broad-based gait, Exaggerated startle response, Bicuspid aortic valve, Vent... |
ORPHA:438213 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:201475 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Dystonia |
OMIM:314580 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, A... |
ORPHA:79259 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platysp... |
OMIM:616482 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormali... |
ORPHA:1328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Attention ... |
OMIM:619005 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Follicular thyroid carcinoma, Enlarged ... |
ORPHA:201 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Stickler Syndrome, Type I |
|
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... |
OMIM:108300 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Attention def... |
OMIM:614083 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Cryptorc... |
OMIM:616894 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Kyphosis, Hypogonadism, Gait disturbance, Scoliosis, Attention deficit hype... |
ORPHA:261349 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Anemia, Abnormality of circulating enzyme level |
ORPHA:93598 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Abnormal ... |
ORPHA:581 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Oligomenorrhea, Biconcave vertebra... |
OMIM:219090 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Difficulty walking, Cognitive impairme... |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia,... |
ORPHA:464311 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Kyphoscoliosis, Acanthocytosis, Cardiome... |
ORPHA:14 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect |
OMIM:603387 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... |
OMIM:610443 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... |
ORPHA:2616 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response, Irritability, Short attention span |
OMIM:617864 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Single ventricle, Aplasia of the uterus, Short neck |
OMIM:619879 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... |
OMIM:252500 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal death |
OMIM:620351 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Inability to walk, Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... |
ORPHA:273 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Complete atrioventricular canal defect, Gait ataxia, Scoliosis, Attention defic... |
ORPHA:476126 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Unsteady gait, Inability to walk, Abnormal... |
ORPHA:3063 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, Inability to walk, Male urethral meatus stenosi... |
ORPHA:464738 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly |
OMIM:607015 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... |
ORPHA:3042 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Prominent coccy... |
OMIM:300966 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... |
OMIM:265000 |
Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Short neck, Cardi... |
OMIM:300855 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Torticollis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome... |
OMIM:309900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepato... |
OMIM:274000 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... |
OMIM:245600 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat... |
OMIM:614527 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao... |
ORPHA:192 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... |
ORPHA:79329 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... |
ORPHA:251014 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis |
OMIM:617190 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:1507 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairm... |
OMIM:300257 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:763 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis, Cryptorchidism, ... |
ORPHA:464306 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Gait imbalance, Scoliosis, Truncal ataxia |
OMIM:211530 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... |
ORPHA:800 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Small scrotum, Scoliosis, Cryptorchidism |
ORPHA:2215 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Athetosis, Irritability, Scoliosis, Dystonia |
OMIM:613454 |
Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Inability to walk, Hepatosplenomegaly, ... |
ORPHA:576 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Lethargy |
ORPHA:137675 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Exaggerated startle response, Cognitive impairment, Congenital hypothyroidism |
OMIM:617527 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... |
ORPHA:2879 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Pericardial effusion, Kypho... |
ORPHA:536532 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t... |
ORPHA:2461 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hyperlordosis, Inability to walk, Scoliosis, Difficulty walking, Left... |
ORPHA:365 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... |
ORPHA:363958 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral ... |
ORPHA:904 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney |
OMIM:608836 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian... |
ORPHA:881 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc... |
OMIM:194190 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Cockayne Syndrome A |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Thy... |
OMIM:216400 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... |
ORPHA:140 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Hypospadias, Abnormal heart valve morphology, Ataxia, Kyphosis, Cryptorchidism, Ab... |
ORPHA:280 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... |
OMIM:130650 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Kyphosis, Dysmetria, Dysdiadochokinesis, Difficulty walking, Cognitive impa... |
ORPHA:171629 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Micr... |
OMIM:619475 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati... |
OMIM:162300 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocele t... |
OMIM:619522 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... |
ORPHA:744 |
Poland Syndrome |
|
Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae... |
ORPHA:2911 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... |
OMIM:208400 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Scoliosis |
ORPHA:457284 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... |
ORPHA:1855 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... |
OMIM:602535 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column |
ORPHA:77301 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abno... |
ORPHA:1606 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Hypothyroidism, Scoliosis |
ORPHA:2479 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly |
ORPHA:2463 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Difficulty walking, Cardiomegaly |
OMIM:232300 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Kyphosis, Unsteady gait, Scoliosis |
OMIM:618493 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Cdags Syndrome |
|
Kyphosis, Hypospadias, Rectovaginal fistula |
OMIM:603116 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Kyphosis, Unsteady gait, Cardio... |
ORPHA:90324 |
Cockayne Syndrome |
|
Hepatomegaly, Diabetes mellitus, Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Inability to wal... |
ORPHA:191 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal... |
OMIM:135900 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Waddling gait, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal... |
OMIM:143095 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5t... |
ORPHA:955 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis |
ORPHA:401973 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Atrial septal defect, Pancreatic hy... |
OMIM:619991 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Weaver Syndrome |
|
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism |
OMIM:277590 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Neurofibromatosis Type 1 |
|
Ataxia, Precocious puberty, Kyphosis, Cryptorchidism, Abnormality of the endocrine system, Chroni... |
ORPHA:636 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis, Mitral valve prolapse |
OMIM:177850 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Ky... |
ORPHA:818 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Stillbirth, Transposition of... |
OMIM:256520 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... |
OMIM:249420 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc... |
ORPHA:97297 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis |
OMIM:133540 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis |
ORPHA:1969 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Hypothyroidi... |
ORPHA:116 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Attention deficit hyperactivity disorder, Tip-toe gait, Scoliosis |
OMIM:618050 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto... |
ORPHA:2658 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Hypospadias |
OMIM:609944 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism |
OMIM:300960 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Scoliosis, Cardiomegaly |
ORPHA:91387 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... |
ORPHA:99827 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Irritability, Uterine rupture, Scoliosis, Delayed puberty, Ere... |
ORPHA:649 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619194 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Mitral valve prolapse |
OMIM:616914 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Elevated ci... |
OMIM:256040 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Kyphosis, Cryptorchidism, Depression, Anemia, Azoospermia, Platyspondyly, Ab... |
ORPHA:534 |
17Q11 Microdeletion Syndrome |
|
Short attention span, Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormal heart morpholo... |
ORPHA:97685 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... |
OMIM:276820 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Micropenis |
ORPHA:457359 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin... |
OMIM:130050 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Ramon Syndrome |
|
Kyphosis, Enlarged labia minora, Scoliosis |
OMIM:266270 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fract... |
ORPHA:666 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt... |
OMIM:107480 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Peters Plus Syndrome |
|
Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypo... |
ORPHA:709 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Loeys-Dietz Syndrome |
|
Scoliosis, Uterine rupture |
ORPHA:60030 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Phimosis, Tremor, Kyphosis, Cryp... |
ORPHA:821 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... |
OMIM:617140 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short nec... |
OMIM:261540 |
Pallister-Killian Syndrome |
|
Sacral dimple, Small scrotum, Hypospadias, Ventricular septal defect, Kyphoscoliosis, Short neck,... |
OMIM:601803 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Hypospadias |
ORPHA:85199 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Dementia, Mental de... |
ORPHA:2273 |
Classic Homocystinuria |
|
Kyphosis, Scoliosis, Hepatomegaly |
ORPHA:394 |
Marfan Syndrome |
|
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Attention deficit hyperac... |
ORPHA:558 |
Wrinkly Skin Syndrome |
|
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation |
OMIM:278250 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Ventricular septal defect |
ORPHA:1393 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, C... |
ORPHA:286 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchidism, Kyphosis, Cr... |
OMIM:259050 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:619482 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism |
OMIM:309000 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, S... |
OMIM:182250 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response |
OMIM:618367 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Stickler Syndrome |
|
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... |
ORPHA:828 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypereosin... |
OMIM:619472 |
Yunis-Varon Syndrome |
|
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ... |
OMIM:216340 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
Branchiooculofacial Syndrome |
|
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Ectopic t... |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |