| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Death in childhood, Lymphopenia |
OMIM:200900 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus, Death in infancy |
OMIM:612782 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Death in infancy, Decreased circulating antibody level, Lymphopenia, Im... |
OMIM:243150 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Death in childhood, Cryptorchidism |
OMIM:214110 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... |
OMIM:242700 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... |
OMIM:208900 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Death in infancy, Accessory spleen, Death in childhood, Adrenal hypoplasia |
OMIM:613177 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... |
OMIM:102700 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean platelet volum... |
ORPHA:84064 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hashimoto thyroi... |
ORPHA:436252 |
| Eec Syndrome |
|
Hypohidrosis, Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, An... |
ORPHA:1896 |
| Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Oligoclonal T c... |
ORPHA:83471 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypothyroidism, Hyperthyroidism, Hypoplasia of the thymus, Impaired T cell functi... |
ORPHA:567 |
| Treacher-Collins Syndrome |
|
Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
| Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Abnormality of the thymus, Pa... |
OMIM:188400 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Death in infancy |
OMIM:619036 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Hyperhidrosis, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
| Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Weight loss |
ORPHA:99819 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism |
OMIM:264090 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
| Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Testicul... |
ORPHA:744 |
