| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Epicanthus |
OMIM:616911 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay |
OMIM:619164 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp... |
OMIM:300755 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... |
OMIM:300400 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... |
ORPHA:98818 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, EEG abnormality, Hyperactivity, Motor stereotypy |
OMIM:239500 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Postnatal growth retardation, Splen... |
OMIM:620632 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity |
OMIM:617113 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with... |
ORPHA:2382 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Mental deterioration, Prelingual sensorineural hearing impairment, Abnormality of ... |
ORPHA:52368 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... |
OMIM:603909 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... |
OMIM:620210 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... |
OMIM:308240 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,... |
OMIM:609981 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Morm Syndrome |
|
Aggressive behavior, Retinal atrophy, Hyperactivity |
ORPHA:75858 |
| Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Memory impairment, Inappro... |
OMIM:619827 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... |
ORPHA:206443 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Postnatal growth retardation, L... |
OMIM:620603 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Dementia, Abnormal amplitude of flash visual evoked potentials, EEG with sp... |
ORPHA:168491 |
| Rasmussen Subacute Encephalitis |
|
Continuous spike and waves during slow sleep, Memory impairment, Increased theta frequency activi... |
ORPHA:1929 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609054 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Irritability,... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Bruxism, Motor stereotypy, Hyperactivity, EEG abnormality,... |
OMIM:618718 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Retinal degeneration, Macu... |
OMIM:619260 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform discharges, Low... |
ORPHA:163681 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment, Opti... |
OMIM:238700 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... |
OMIM:615516 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Short attention span, Polyphagia, EEG abnormality, Hyperactivity |
ORPHA:411515 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Hyperactivity, Sensorineural hearing impairment |
OMIM:608747 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... |
OMIM:301013 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Depression, Abnormal motor evoked... |
ORPHA:909 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... |
ORPHA:911 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Decreased testicular size, Intrauterine growth retardation, Cryptorchidi... |
OMIM:617053 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Mental deterioration, Short attention span, Abnormality of peripheral nerve conduc... |
ORPHA:35069 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... |
ORPHA:247585 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability |
OMIM:616881 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Congenital sensorineura... |
ORPHA:73272 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... |
OMIM:617827 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Mental deterioration, ... |
ORPHA:206436 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Aggressive behavior, Hyperactivity, Progressive neurologic deterioration, Den... |
OMIM:252920 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Recurrent ... |
ORPHA:449291 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Pr... |
OMIM:610042 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Neo... |
OMIM:601186 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Mental deterioration, EEG abnormality... |
ORPHA:206448 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Restless legs, Sensorineural hearing impairment, Absent brai... |
ORPHA:101085 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function, Downslanted palpebral fissures |
ORPHA:30 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Disinhibition, Aggressive behavior, Attention deficit hyperactivi... |
ORPHA:43 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Decreased testicular size, Splenomegaly, Tremor, Hepatomegaly, Short st... |
OMIM:201100 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Growth delay, Decreased response to growth hormone stimulation test,... |
ORPHA:699 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... |
ORPHA:288 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Cockayne Syndrome A |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... |
OMIM:216400 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Abnormality of peripheral nerve conduc... |
ORPHA:90321 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Aggressive behavior... |
ORPHA:401973 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
| Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Ivory epiphyses of th... |
OMIM:133540 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of... |
OMIM:614643 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Mental deterioration, Short attention span, Emotional lability, Hyperactivity, Dys... |
OMIM:610217 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Optic atrophy, Otosclerosis, Conductive hearing impairment, Mental dete... |
ORPHA:580 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Dysphagia, Low vol... |
ORPHA:171929 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
EEG abnormality |
OMIM:619228 |
| Atelis Syndrome 2 |
|
Low-set ears, Attention deficit hyperactivity disorder, Protruding ear, Remnants of the hyaloid v... |
OMIM:620185 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Depression, Obsessive-c... |
OMIM:234200 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... |
OMIM:181000 |
| Full Nf2-Related Schwannomatosis |
|
Memory impairment, Bilateral vestibular schwannoma, Vestibular schwannoma, Sensorineural hearing ... |
ORPHA:637 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Oculo-Palato-Cerebral Syndrome |
|
Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme... |
ORPHA:649 |
| Pierson Syndrome |
|
Retinal hemorrhage, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system |
OMIM:609049 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Severe postnatal growth retardation, Abnormality of T cell physiology, Parath... |
ORPHA:2237 |
| Neuroocular Syndrome 1 |
|
Low-set ears, Cupped ear, Anterior creases of earlobe, Attention deficit hyperactivity disorder, ... |
OMIM:619539 |
| Acromelic Frontonasal Dysostosis |
|
Low-set ears, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Microphthalmia, Syndromic 2 |
|
Cupped ear, Asymmetry of the ears, Sensorineural hearing impairment, Retinal detachment, Remnants... |
OMIM:300166 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system |
OMIM:157170 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Thick eyebrow, Tremor, Downslanted palpebral fissures |
OMIM:619229 |
