| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Thrombocytopen... |
OMIM:617053 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Impaired lymphocyte transformation wi... |
OMIM:243150 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Hemochromatosis, Type 3 |
|
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... |
OMIM:604250 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism |
OMIM:214110 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, L... |
OMIM:208900 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Pearson Syndrome |
|
Hypothyroidism, Anemia, Decreased response to growth hormone stimulation test, Abnormality of the... |
ORPHA:699 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
| Syndromic Diarrhea |
|
Hypothyroidism, Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of the live... |
ORPHA:84064 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Cryptorchidism |
OMIM:601186 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins... |
OMIM:269200 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Thymoma, Non-caseating epithelioid ... |
ORPHA:227982 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227990 |
| Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... |
ORPHA:54251 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Hypothyroidism, Decreased circulating aldosterone level, Chronic a... |
OMIM:240300 |
| Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... |
ORPHA:83471 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:614204 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Accessory spleen, Adrenal hypoplasia |
OMIM:613177 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypo... |
OMIM:600901 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypo... |
OMIM:227650 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Bone marrow hypocellul... |
OMIM:227645 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
| Treacher-Collins Syndrome |
|
Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus, Cryptorchidism |
OMIM:619123 |
| Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... |
OMIM:617099 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c... |
ORPHA:829 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
| Right Atrial Isomerism |
|
Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Hypoparathyroidism, Ab... |
ORPHA:567 |
| Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hepatic steatosis, Abnormalit... |
OMIM:188400 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Bone marrow hypocellul... |
OMIM:227646 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:36238 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
| Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess |
OMIM:612852 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat... |
ORPHA:3243 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism |
OMIM:264090 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
| Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... |
ORPHA:564 |
| Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
OMIM:249100 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Malformation of the hepatic ductal plate, Bile duct proliferation, Accessory spleen, Cr... |
OMIM:249000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Polysplenia, Hepatomegaly, Abdominal situs inversus |
OMIM:306955 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Cryptorchidism |
ORPHA:221120 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus |
OMIM:270100 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
| Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Testicul... |
ORPHA:744 |
| Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Hydrocele testis, Cryptorchidism |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Asplenia, Hydrocele testis, Cryptorchidism |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Hydrocele testis, Cryptorchidism |
ORPHA:261552 |
