| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| 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 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized... |
OMIM:234500 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency, Progressive neurologic deterioration |
OMIM:611722 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity |
ORPHA:436151 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:617863 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Irritability, Apnea |
OMIM:615228 |
| 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 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... |
ORPHA:2382 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Irritability, Hyperactivity, Generalized-onset seizure, Seizure |
OMIM:616657 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... |
ORPHA:98818 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus |
OMIM:605899 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Depression, Focal T2 hyperintense thalamic lesion, Dementia, Progressi... |
ORPHA:79264 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Depression, Dementia, Thalamic calcification, Cognitive impairment, Memory impairment |
OMIM:615483 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume, Hypsarrhythmia |
OMIM:613668 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... |
OMIM:618048 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:239500 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Irritability, Apneic episodes in infancy |
ORPHA:500545 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
| Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Irritability, Apnea, Respiratory insufficiency |
OMIM:617290 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
| Benign Familial Neonatal-Infantile Seizures |
|
Mental deterioration, Apnea |
ORPHA:140927 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level |
OMIM:618495 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Focal T2 hyperintense thalamic lesion, Respiratory failure, Aspira... |
OMIM:619057 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz... |
ORPHA:382 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Hyperlysinemia, Type I |
|
Seizure, Hyperactivity |
OMIM:238700 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity |
OMIM:613402 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... |
ORPHA:277 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Mental deterioration, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors |
OMIM:301107 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea |
OMIM:610992 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Apnea |
OMIM:618235 |
| Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Irritability, Apnea, Hyperventilation |
OMIM:229700 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
| 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 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Benign Familial Infantile Epilepsy |
|
Psychomotor deterioration, Apnea |
ORPHA:306 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Cognitive impairment |
ORPHA:397725 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea |
OMIM:618414 |
| Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Irritability, Apnea, Respiratory insufficiency |
OMIM:618226 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Irritability, Apnea |
ORPHA:79097 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Thalamic calcification |
OMIM:618317 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea, Cogniti... |
ORPHA:444013 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Confusion |
ORPHA:71277 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
ORPHA:85288 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Progressive neurologic deterioration, Bronchiectasis, Respiratory insufficiency, Irritabil... |
OMIM:618253 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Apnea |
OMIM:616277 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification |
OMIM:618824 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, T2 hypointense thalamus, Dementia |
OMIM:618193 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Abnormality of pattern visual evoked potentials, Dementia, Cognitive imp... |
ORPHA:1947 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:619072 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal thalamic MRI signal intensity, EEG with generalized epilepti... |
ORPHA:363558 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Attention deficit hyperact... |
OMIM:261600 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... |
OMIM:615559 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... |
OMIM:271980 |
| Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia |
ORPHA:83313 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Seizu... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... |
OMIM:620210 |
| Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... |
ORPHA:1929 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:467166 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... |
OMIM:616100 |
| Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Progressive neurologic deterioration, Depression |
ORPHA:254881 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... |
OMIM:226990 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency |
OMIM:618228 |
| Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Bruxism |
OMIM:300434 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... |
OMIM:615516 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Midline brainstem cleft, Hypoplasia of the pons |
OMIM:617542 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Inappropriate laughter, Impaired social interactions, ... |
ORPHA:3095 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Mental deterioration, Apneic episodes in infancy... |
ORPHA:35069 |
| Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
| 48,Xxyy Syndrome |
|
Asthma, Apnea, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Diplopia, Progressive visual field defects, Gonadotr... |
ORPHA:95512 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Panhypophysitis |
|
Reduced circulating prolactin concentration, Diplopia, Progressive visual field defects, Gonadotr... |
ORPHA:95513 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... |
ORPHA:397596 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Cognitive impairment, Impaired social interactions, Depression |
OMIM:615157 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Seizure, Hyperactivity |
OMIM:617169 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Hyperactivity, Myoclonus |
OMIM:615924 |
| Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea |
OMIM:611523 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... |
OMIM:619467 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration |
OMIM:608800 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Abnormal pattern of respiration |
ORPHA:88619 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
| 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 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... |
ORPHA:485350 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Rett Syndrome |
|
Motor deterioration, Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive mannerisms, Paroxys... |
OMIM:618718 |
| Childhood Absence Epilepsy |
|
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperventilation |
ORPHA:64280 |
| Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... |
OMIM:615934 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Abnormal thalamic MRI signal intensity, Hypsarrhythmia, EEG ... |
ORPHA:485421 |
| Reticular Dysgenesis |
|
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Apnea, Attention deficit hyperactivity disorder, Emotional lability, Paroxy... |
OMIM:619580 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Depression, Dementia, Memory impairment |
OMIM:604121 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level |
OMIM:301045 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Seizure, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
| Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
| Cach Syndrome |
|
Blindness, T2 hypointense thalamus, Hepatosplenomegaly, Abnormal pons morphology, Atrophy/Degener... |
ORPHA:135 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Emotional lability, Apnea |
OMIM:300055 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Irritability, A... |
ORPHA:348 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Depression, Attention deficit hyperactivity disorder, Cognitive impairment, Hyperventilation |
ORPHA:98784 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Myopia, Blindness, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem mo... |
ORPHA:370959 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
| Fatal Familial Insomnia |
|
Dementia, Apnea |
OMIM:600072 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... |
OMIM:619913 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
| Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Subcortical dementia, Abnormal thalamic MRI signal intensity, Frontal lo... |
ORPHA:157846 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Visual field def... |
ORPHA:254930 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Confusion, Abnormal thalamic MRI signal inten... |
ORPHA:83597 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Developmental And Epileptic Encephalopathy 99 |
|
Central apnea |
OMIM:619606 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Neutrophilia, Abnormal substantia nigra morphology, Ab... |
ORPHA:79139 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
| Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Myopia, Hemianopia, Abnormal thalamus morphology, Hypermetropia |
ORPHA:404440 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis |
OMIM:300635 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea |
OMIM:610015 |
| Juvenile Huntington Disease |
|
Hyperactivity, Depression, Irritability, Seizure, Myoclonus |
ORPHA:248111 |
| Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Short attention span, Delayed early-childhood social milestone development, Impaired social inter... |
ORPHA:300570 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
| Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
| Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Apnea, Central hypoventilation |
OMIM:620167 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea |
OMIM:614498 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
| Hypophosphatasia, Infantile |
|
Irritability, Apnea |
OMIM:241500 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment, Depression |
ORPHA:70595 |
| Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Emotional lability, Apnea, Cardiorespiratory arrest, Irritability |
OMIM:608643 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb... |
ORPHA:1942 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Focal-onset s... |
ORPHA:168491 |
| Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
| Myotonia Fluctuans |
|
Stridor, Apnea |
ORPHA:99734 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
| Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
| Tenorio Syndrome |
|
Emotional lability, Recurrent pneumonia, Apnea |
OMIM:616260 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Seizure, Hyperactivity, Infantile spasms, Tonic seizure |
OMIM:619239 |
| Illum Syndrome |
|
Apnea |
OMIM:208155 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Seizure, Hyperactivity, Impulsivity |
OMIM:300143 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
| Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly |
ORPHA:309155 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Abnormal thalamus morphology, Progressive visual loss, Microcytic anemia |
ORPHA:2959 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration |
ORPHA:79644 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Gaucher Disease, Type Ii |
|
Apnea, Progressive neurologic deterioration, Stridor, Cough, Recurrent aspiration pneumonia |
OMIM:230900 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Respiratory insufficiency |
OMIM:608093 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Dysphagia |
ORPHA:500180 |
| Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... |
OMIM:300755 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
| Tay-Sachs Disease |
|
Short attention span, Abnormal thalamic MRI signal intensity, Depression, Aspiration pneumonia, M... |
ORPHA:845 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Respiratory insufficiency |
OMIM:618886 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Abnormality of visual evoked potentials |
ORPHA:79330 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attention deficit hyperactivi... |
OMIM:620242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... |
ORPHA:3392 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Emotional lability, Pituitary hypothyroidism, Decreased respons... |
OMIM:614963 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Optic Atrophy 5 |
|
Abnormality of pattern visual evoked potentials |
OMIM:610708 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
| Fragile X Syndrome |
|
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Confusion, Dyspnea, A... |
ORPHA:79138 |
| Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Nar... |
ORPHA:646 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Mental deterioration, Apnea, Cognitive impairment |
ORPHA:395 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Progressive neurologic deterioration, Emotional lability, Aspiration |
ORPHA:2131 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea |
OMIM:261680 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Seizure, A... |
ORPHA:449291 |
| Joubert Syndrome With Renal Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
| Hsd10 Disease |
|
Short attention span, Abnormal social behavior |
ORPHA:391417 |
| Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cognitive impairment, Apnea, Respiratory insufficiency |
OMIM:617527 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Progressive neurologic deterioration |
OMIM:608013 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment |
ORPHA:314404 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal thalamic MRI signal intensity, Abnormal pattern of respiration, Pro... |
ORPHA:506 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Irritability, Apnea, Hyperventilation |
OMIM:617799 |
| Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Camptodactyly, Le... |
OMIM:300280 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Molar tooth sign on MRI, Acces... |
OMIM:619306 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
| Holocarboxylase Synthetase Deficiency |
|
Irritability, Tachypnea, Hyperventilation |
OMIM:253270 |
| Joubert Syndrome With Ocular Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:608836 |
| Rhombencephalosynapsis |
|
Abnormality of vision, Fusion of the left and right thalami |
ORPHA:59315 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level |
ORPHA:3162 |
| Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy |
ORPHA:3078 |
| Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia |
ORPHA:319251 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, B lymphocytopenia |
OMIM:619851 |
| Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... |
ORPHA:297 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
| Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Confusion |
ORPHA:261476 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Apnea |
OMIM:614969 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Tachypnea, Dilated third ventricle, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea |
OMIM:214110 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa... |
OMIM:235200 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
| Infantile Krabbe Disease |
|
Respiratory distress, Psychomotor deterioration, Progressive neurologic deterioration, Mental det... |
ORPHA:206436 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:319218 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Hypothalamic hamartoma |
ORPHA:2754 |
| Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
| Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Dementia, Attention deficit hyperactivity disorder, Aspiration pneumonia, A... |
ORPHA:52368 |
| Aceruloplasminemia |
|
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:48818 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia |
OMIM:253250 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Respiratory insufficiency |
ORPHA:2971 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Leukope... |
ORPHA:2298 |
| Hydranencephaly |
|
Blindness, Thalamic edema, Abnormality of vision, Dysgenesis of the thalamus, Atrophic pituitary ... |
ORPHA:2177 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... |
ORPHA:381 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Abnormal brainstem morphology, Photophobia, Hypochromic anemia, Abnor... |
ORPHA:2720 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Pulmonary arterial hypertension, Respiratory failure, Central apnea |
OMIM:616482 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic seizure... |
OMIM:300912 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia |
OMIM:170100 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... |
OMIM:612301 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Mental deterioration, Irritability, Attention deficit hyperactivity disorder, Abnormality of visu... |
ORPHA:206443 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
| Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Depression, Irritability, A... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Depression, Irritability, A... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Depression, Irritability, A... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Depression, Irritability, A... |
ORPHA:220386 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Demen... |
ORPHA:309271 |
| Joubert Syndrome With Hepatic Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology |
ORPHA:280195 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Respiratory insufficiency |
ORPHA:521426 |
| Glass Syndrome |
|
Apnea |
OMIM:612313 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Cognitive impairment |
ORPHA:141 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Igg4-Related Pachymeningitis |
|
Complement deficiency, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Abnormality of visual evoked potenti... |
ORPHA:309263 |
| Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Cough |
ORPHA:579 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia, Visual impairment |
OMIM:615966 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric... |
OMIM:239850 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short attention span, Apnea |
ORPHA:17 |
| Brucellosis |
|
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... |
ORPHA:1304 |
| Genitopatellar Syndrome |
|
Apnea |
ORPHA:85201 |
| Schwartz-Jampel Syndrome |
|
Apnea, Respiratory insufficiency, Irritability, Attention deficit hyperactivity disorder, Pulmona... |
ORPHA:800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea |
OMIM:618426 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... |
ORPHA:77259 |
| 48,Xxxy Syndrome |
|
Pulmonary embolism, Asthma, Irritability, Attention deficit hyperactivity disorder, Abnormal soci... |
ORPHA:96263 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea |
ORPHA:20 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea |
ORPHA:466722 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Undetectable visual evoked potentials, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Hypertroph... |
OMIM:616897 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
| Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Ectopic posterior pituitary, Apnea |
ORPHA:98889 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Asthma |
OMIM:614457 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Cough |
ORPHA:464321 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency |
OMIM:601559 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Cholera |
|
Irritability, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| Encephalitis Lethargica |
|
Mental deterioration, Hyperventilation |
ORPHA:83600 |
| Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
| Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ... |
ORPHA:228123 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Wolfram Syndrome |
|
Central apnea, Dementia, Respiratory insufficiency |
ORPHA:3463 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
| Macrocephaly/Autism Syndrome |
|
Splenomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
| Marshall-Smith Syndrome |
|
Apnea, Stridor, Aspiration pneumonia, Pulmonary arterial hypertension, Recurrent aspiration pneum... |
OMIM:602535 |
| Thymoma |
|
Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Abnormal lymphocyte ph... |
ORPHA:99867 |
| Joubert Syndrome 21 |
|
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea |
OMIM:615636 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level |
ORPHA:169105 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormality of pattern visual evoked potentials, Mental deterioration, Memo... |
ORPHA:2822 |
| Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Memory impairment, Dementia, Subcortical dementia |
OMIM:125310 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Respiratory insufficiency |
ORPHA:702 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Craniopharyngioma |
|
Bitemporal hemianopia, Abnormal visual field test, Enlarged pituitary gland, Neoplasm of the ante... |
ORPHA:54595 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... |
OMIM:233600 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Hypopnea, Respiratory arrest, Respiratory failure, Apnea |
OMIM:617248 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... |
ORPHA:79078 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Mental deterioration |
ORPHA:96 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
| Shprintzen-Goldberg Syndrome |
|
Apnea |
ORPHA:2462 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Pulmonary arterial hypertension, Apnea, Chronic rhinitis |
ORPHA:667 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level |
OMIM:226300 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
| Stargardt Disease |
|
Abnormality of visual evoked potentials |
ORPHA:827 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal defect, Camptodactyly of finger,... |
OMIM:602782 |
| Cystic Echinococcosis |
|
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
| Ogden Syndrome |
|
Apnea, Irritability, Pulmonary arterial hypertension, Restrictive ventilatory defect, Aspiration |
OMIM:300855 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Mania, Delirium, Hyperventilation |
ORPHA:90068 |
| Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
| Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
ORPHA:98754 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level |
OMIM:613385 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
ORPHA:177904 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... |
ORPHA:125 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
ORPHA:177901 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... |
OMIM:210900 |
| Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Apnea |
OMIM:300373 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Impaired social interactions |
OMIM:256600 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Seizure |
OMIM:620047 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Tarp Syndrome |
|
Apnea |
ORPHA:2886 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... |
OMIM:617303 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Increased circulating IgG lev... |
ORPHA:99827 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Amoebiasis Due To Free-Living Amoebae |
|
Blindness, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainste... |
ORPHA:68 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly |
ORPHA:349 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials, Mental deterioration |
ORPHA:228360 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Pancreatic And Cerebellar Agenesis |
|
Apnea |
OMIM:609069 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
| Slc35A2-Cdg |
|
Abnormal midbrain morphology, Cerebral visual impairment, EEG with focal epileptiform discharges,... |
ORPHA:356961 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly |
ORPHA:168577 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... |
OMIM:114290 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... |
ORPHA:1572 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials |
ORPHA:1933 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Argininemia |
|
Irritability, Hyperactivity, Seizure, Anorexia |
OMIM:207800 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Laryngotracheomalacia |
OMIM:616875 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... |
OMIM:618278 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Apnea |
ORPHA:1052 |
| Bohring-Opitz Syndrome |
|
Apnea |
ORPHA:97297 |
| Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Impaired pain sensation, Narcolepsy, Depression, Self-injurious behavior, Se... |
ORPHA:293987 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... |
ORPHA:183675 |
| Acute Liver Failure |
|
Confusion, Abnormal respiratory system physiology, Depression, Euphoria, Hypocapnia, Emotional la... |
ORPHA:90062 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1215 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt... |
OMIM:619381 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Duplication Of The Pituitary Gland |
|
Congenital stationary night blindness, Abnormal pituitary gland morphology, Abnormal midbrain mor... |
ORPHA:314621 |
| Unilateral Polymicrogyria |
|
Apnea, Epistaxis |
ORPHA:268943 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Myoc... |
ORPHA:447997 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials |
OMIM:617523 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the anterior pituitary, Aspiratio... |
ORPHA:438213 |
| Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials |
ORPHA:352731 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation |
OMIM:618775 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Abnormal social behavior, Small pituitary gland, Attention defic... |
ORPHA:93932 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Umbilic... |
OMIM:618143 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Apnea, Decreased response to growth hormone stimulation test, Asth... |
OMIM:619503 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Attention deficit hyperactivity disorder, Hyperventilation |
OMIM:618050 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Panhypopituitarism |
OMIM:610828 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Slc39A8-Cdg |
|
Sudden episodic apnea |
ORPHA:468699 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... |
ORPHA:284 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Decreased circulating IgA level |
OMIM:613327 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
| African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Narcolepsy, Impaired proprioception, ... |
ORPHA:3385 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Laryngotracheomalacia |
ORPHA:480898 |
| Poems Syndrome |
|
Thrombocytosis, Polycythemia, Increased circulating antibody level |
ORPHA:2905 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... |
ORPHA:505248 |
| Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormal social behavior, Irritability, Abnor... |
ORPHA:1675 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:508093 |
| Q Fever |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Increased circulating antibody level, Cryogl... |
ORPHA:781 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:77261 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
| White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Irritability, Overfriendliness |
OMIM:616364 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Anemia, Increased circulating antibody level |
ORPHA:85443 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
| Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials |
OMIM:601152 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Decreased circulating antibody level, Complement deficiency, Leukopenia, Normo... |
ORPHA:289390 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancre... |
OMIM:130650 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
| Neurotrophic Keratopathy |
|
Blurred vision, Allodynia, Slow decrease in visual acuity |
ORPHA:137596 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Attention deficit hyperactivity disorder |
OMIM:618929 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation, Dementia, Abnormality of visual evoked potentials |
OMIM:203700 |
| Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Depression |
ORPHA:285 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227990 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Depression, Respiratory failure, Attention deficit hyper... |
ORPHA:805 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Loss of truncal subcutaneous adipose tissue, Cardiomegaly |
ORPHA:2463 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227982 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia |
OMIM:230000 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Pitt-Hopkins Syndrome |
|
Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of humo... |
ORPHA:470 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Allodynia |
ORPHA:51890 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Dyspnea, Epistaxis |
ORPHA:79430 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Flexion contracture, Umbilical hernia,... |
ORPHA:581 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm... |
OMIM:615846 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Camptodactyly, Umbilical hernia, Hyper... |
OMIM:252500 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
| Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Emotional lability, Dementia |
ORPHA:512 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Atrial sept... |
OMIM:136140 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomy... |
ORPHA:51 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials |
ORPHA:79431 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Micro Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:2510 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Cardiomyopathy, Myocarditis, Epididymal cyst |
ORPHA:892 |
| Friedreich Ataxia |
|
Abnormality of visual evoked potentials |
OMIM:229300 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... |
ORPHA:48435 |
| Cerebrotendinous Xanthomatosis |
|
Short attention span, Progressive psychomotor deterioration, Depression, Cognitive impairment, At... |
ORPHA:909 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... |
ORPHA:99826 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials |
OMIM:231550 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Inappropriate laughter, Atten... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Inappropriate laughter, Atten... |
ORPHA:363958 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Crypto... |
ORPHA:116 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Epididymal cyst, Atrial sep... |
ORPHA:2044 |
| Gaucher Disease |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:355 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Flexion contracture, Left ventricular hypertrophy, Hypertrophic cardi... |
ORPHA:365 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... |
ORPHA:171 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Inguinal hernia, Hypospadias, Left atrial enlargement, Ventricular septal defect, C... |
OMIM:619991 |
| Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Hypogonadotropic hypogona... |
ORPHA:904 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Cockayne Syndrome A |
|
Abnormality of visual evoked potentials, Dementia |
OMIM:216400 |
| Benign Schwannoma |
|
Allodynia, Abnormality of peripheral nervous system electrophysiology |
ORPHA:252164 |
| Norrie Disease |
|
Irritability, Abnormality of the diencephalon, Attention deficit hyperactivity disorder |
ORPHA:649 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| Pallister-Killian Syndrome |
|
Apneic episodes in infancy, Hyperventilation |
OMIM:601803 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |
| Cockayne Syndrome B |
|
Abnormality of visual evoked potentials |
OMIM:133540 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
