| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Mental Retardation, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent otitis media, In... |
OMIM:618944 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
| Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... |
OMIM:618534 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
| Huntington Disease |
|
Dystonia, Memory impairment, Aggressive behavior, Apathy, Oral-pharyngeal dysphagia, Degeneration... |
ORPHA:399 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Microcephaly, Decreased circulating IgG level |
OMIM:235550 |
| Mental Retardation, Autosomal Recessive 60 |
|
Microcephaly, Delayed myelination |
OMIM:617432 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hypoplasia of the corpus callosum, Abnormal myelination |
ORPHA:401840 |
| Leptin Receptor Deficiency |
|
Aggressive behavior, Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism... |
OMIM:614963 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis, Increased circulating IgE level |
OMIM:147050 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... |
OMIM:300400 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:608106 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy, Optic atrophy, Abnormal periventricular white matter morphology |
OMIM:616370 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Optic atrophy, Dysplastic corpus callosum |
OMIM:613162 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Dystonia 30 |
|
Hypothalamic hamartoma, Bipolar affective disorder, Dystonia, Aggressive behavior, Loss of abilit... |
OMIM:619291 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Secondary microcephaly, Cerebral atrophy, Delayed myelination |
OMIM:618331 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Microcephaly, Delayed myelination, Simplified gyral pattern |
OMIM:617800 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... |
OMIM:610163 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Optic atrophy, Delayed myelination, Abnormal periventricular white matter morphology |
OMIM:616881 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... |
OMIM:619220 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum |
ORPHA:401830 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:605258 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum |
ORPHA:401820 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Hypoplastic hippocampus, Cerebral atrophy, Abnormal myelination, Agenesis of corpus callosum, Par... |
ORPHA:85179 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... |
OMIM:603909 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Partial agenesis o... |
OMIM:604213 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Tor... |
OMIM:613724 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
| Periventricular Nodular Heterotopia 8 |
|
Microcephaly, Delayed myelination |
OMIM:618185 |
| Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Microcephaly, Decreased circ... |
OMIM:618973 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity |
OMIM:615707 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... |
OMIM:613493 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... |
ORPHA:500166 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology |
OMIM:613101 |
| Developmental And Epileptic Encephalopathy 28 |
|
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, M... |
OMIM:616211 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Immunodeficiency, Common Variable, 7 |
|
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... |
OMIM:614699 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... |
OMIM:300291 |
| Immunodeficiency, Common Variable, 14 |
|
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... |
OMIM:617765 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Immunodeficiency 81 |
|
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... |
OMIM:619374 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... |
OMIM:618987 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... |
ORPHA:250972 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... |
OMIM:618204 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... |
OMIM:610031 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Cryptorchidism, Interhypothalamic Adhesion, Self-injurious behavior, Infantile spasms, Impulsivit... |
OMIM:618929 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... |
OMIM:618982 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... |
OMIM:308700 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination, Abnormal cerebral white matter morphology, Optic atrophy, Type II lissencep... |
ORPHA:352682 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Increased circulating IgE l... |
OMIM:615767 |
| Immunodeficiency 27A |
|
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... |
OMIM:209950 |
| Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:144120 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotro... |
OMIM:614837 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly, Autoimmunity |
OMIM:618495 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Pachygyria, Delayed myelination, Pigmentary retinopathy, Microcephaly |
OMIM:617613 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
| Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Cerebral atrophy, Secondary microcephaly, Optic atrophy, Microcephaly |
OMIM:615338 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Griscelli Syndrome, Type 2 |
|
Progressive neurologic deterioration, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hyper... |
OMIM:607624 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Agenesis of corpus callosum |
ORPHA:85334 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Small pituitary gland, Anosmia, Primary amenorrhea, Hyposmia, Hypogonadotropic hy... |
OMIM:612702 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Transcobalamin Deficiency |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... |
ORPHA:859 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Candidiasis, Familial, 2 |
|
Increased circulating IgE level |
OMIM:212050 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... |
ORPHA:8 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... |
OMIM:308230 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia |
OMIM:269840 |
| Schnitzler Syndrome |
|
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly |
ORPHA:37748 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... |
ORPHA:52901 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... |
OMIM:308750 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Kallmann Syndrome |
|
Cryptorchidism, Tremor, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erec... |
ORPHA:478 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Developmental And Epileptic Encephalopathy 58 |
|
Secondary microcephaly, Optic atrophy, Delayed myelination |
OMIM:617830 |
| Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
| Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Abnormal myelination, Polymicrogyria, Microcephaly, Optic atro... |
OMIM:617255 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:171703 |
| Developmental And Epileptic Encephalopathy 54 |
|
Microcephaly, Delayed myelination |
OMIM:617391 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus c... |
OMIM:613811 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Craniopharyngioma |
|
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism,... |
ORPHA:54595 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition, Dementia, Hypoplasia of the corpus callosum, Gait disturb... |
OMIM:618193 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Delayed myelination, Aggressive behavior, Poor eye contact, Hypoplasia of the corpus call... |
OMIM:300983 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function, Recurr... |
ORPHA:277 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Dementia, Frontal cortical atrophy... |
ORPHA:2822 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Seizure, Hypogonadotropic hypogonadism, Decreased te... |
OMIM:610628 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Rasmussen Subacute Encephalitis |
|
Generalized convulsive status epilepticus, Emotional lability, Anti-dsDNA antibody positivity, Bi... |
ORPHA:1929 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Decreased serum complement C3, Decreased serum complement C... |
OMIM:615559 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... |
OMIM:619177 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficien... |
OMIM:618841 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Mucolipidosis Iv |
|
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... |
OMIM:252650 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Anosmia, Primary amenorrhea, Hyposmia, Decreased testicular size, Mi... |
OMIM:614897 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Skin-picking, Delayed myelination, Aggressive behavior, Self-injurious behavior, ... |
OMIM:618512 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Secondary microcephaly, Delayed myelination |
OMIM:618339 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hyposmia, External genital hypoplasia |
OMIM:615996 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Cerebral cortical atrophy, Hyperactivity, Bipolar affective disorder, Delayed mye... |
ORPHA:485350 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... |
OMIM:614470 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Microcephaly, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Choanal atresia, Primary amenorrhea, Hypogonadotropic hypogonadism, Micr... |
OMIM:147950 |
| Young-Onset Parkinson Disease |
|
Impaired social interactions, Tremor, Dystonia, Dementia, Depression, Apathy, Female sexual dysfu... |
ORPHA:2828 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Gorlin Syndrome |
|
Cryptorchidism, Wide nasal bridge, Cerebral calcification, Hypogonadotropic hypogonadism, Abnorma... |
ORPHA:377 |
| Insulin Autoimmune Syndrome |
|
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... |
ORPHA:411593 |
| Mental Retardation, Autosomal Recessive 40 |
|
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Delayed myelination |
OMIM:615599 |
| Aicardi-Goutieres Syndrome 3 |
|
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... |
OMIM:610329 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gona... |
OMIM:614841 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis |
OMIM:616030 |
| Meningioma |
|
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Ataxia... |
ORPHA:2495 |
| Angiostrongyliasis |
|
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... |
ORPHA:74 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... |
OMIM:618969 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy |
ORPHA:431329 |
| Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Cerebral atrophy, Thrombocytopenia, Basal ganglia calcifica... |
OMIM:615846 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Anosmia, Microcephaly, Hypogonadism, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenitis, Decreased p... |
ORPHA:331206 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Kufor-Rakeb Syndrome |
|
Tremor, Dystonia, Aggressive behavior, Dementia, Akinesia, Dysphagia, Gait disturbance, Anosmia, ... |
OMIM:606693 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Microcephaly, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
| Developmental And Epileptic Encephalopathy 14 |
|
Delayed myelination, Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy |
OMIM:614959 |
| Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellucidum, Anosmia... |
ORPHA:3157 |
| Riddle Syndrome |
|
Microcephaly, Decreased circulating IgG level |
OMIM:611943 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia |
OMIM:612692 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Chronic sinusitis |
OMIM:613502 |
| Boutonneuse Fever |
|
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... |
OMIM:300853 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Immune Deficiency Disease |
|
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis |
OMIM:242850 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... |
OMIM:240500 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:614838 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Chronic ... |
ORPHA:217390 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count |
ORPHA:100024 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Seizure, Hypogonadotropic hypogonadism, Micropenis |
OMIM:244200 |
| Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... |
OMIM:242860 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
| Functioning Gonadotropic Adenoma |
|
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... |
ORPHA:91348 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... |
OMIM:618394 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Hydrolethalus |
|
Cryptorchidism, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormality of the sense ... |
ORPHA:2189 |
| Foxg1 Syndrome |
|
Inability to walk, Impaired social interactions, Dystonia, Delayed myelination, Inappropriate cry... |
ORPHA:561854 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Ataxia, Ab... |
ORPHA:68 |
| New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Abnormal s... |
ORPHA:363558 |
| Chilblain Lupus |
|
Systemic lupus erythematosus, Increased circulating antibody level, Chronic myelomonocytic leukem... |
ORPHA:90280 |
| Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive |
|
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema |
OMIM:618523 |
| Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... |
OMIM:178610 |
| Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
| Familial Male-Limited Precocious Puberty |
|
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Attention deficit... |
ORPHA:3000 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Delayed myelination, Hypoplasia of the corpus callosum, Cere... |
ORPHA:397951 |
| Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dementia, Depression, Akinesia, Apathy, Dysphagia, Resting tremor, Lewy bodies, Bradyki... |
ORPHA:411602 |
| X-Linked Lymphoproliferative Disease |
|
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... |
ORPHA:2442 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of... |
ORPHA:1135 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Anosmia, Primary amenorrhea |
OMIM:614858 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... |
OMIM:617099 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cryptorchidism, Peripheral hypomyelination, Anosmia, Demyelinating peripheral neuropathy, Ataxia,... |
OMIM:609136 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia |
OMIM:612370 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcephaly, Agenesis of cor... |
OMIM:614833 |
| Septooptic Dysplasia |
|
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... |
OMIM:182230 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... |
ORPHA:276 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased serum interferon-gamma level, Decreased circulating antibody level, Abnormality of seru... |
ORPHA:540 |
| Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Optic atrophy, Agenesis of corpus callosum,... |
ORPHA:1528 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Encephalitis, Colitis |
OMIM:616098 |
| Leber Congenital Amaurosis 10 |
|
Seizure, Hyposmia |
OMIM:611755 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Emotional lability, Resting tremor, Iron ac... |
ORPHA:157846 |
| Dopa-Responsive Dystonia |
|
Dystonia, Agoraphobia, Emotional lability, Panic attack, Generalized dystonia, Delayed myelinatio... |
ORPHA:255 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity |
OMIM:616050 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, L... |
OMIM:218670 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Cach Syndrome |
|
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Apathy, Limb ataxi... |
ORPHA:135 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:600329 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Lymphopenia, ... |
OMIM:615816 |
| Duplication Of The Pituitary Gland |
|
Self-mutilation, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Microcepha... |
ORPHA:314621 |
| Zika Virus Disease |
|
Thrombocytopenia, Microcephaly, Increased circulating IgM level, Congenital intracerebral calcifi... |
ORPHA:448237 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... |
ORPHA:449400 |
| Johnson Neuroectodermal Syndrome |
|
Choanal stenosis, Micropenis, Anosmia, Hypogonadotropic hypogonadism, Decreased testicular size, ... |
OMIM:147770 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
| Dermoid Cysts, Familial Frontonasal |
|
Deviated nasal septum, Nasal congestion, Dysphagia, Anosmia, Wide nasal bridge, Seizure, Nocturna... |
OMIM:600679 |
| Congenital Hypothyroidism |
|
Goiter, Depression, Hypothyroidism, Anosmia, Abnormality of reproductive system physiology, Abnor... |
ORPHA:442 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Erythroderma, Increased circulating IgE level, Blepharitis |
OMIM:614328 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Central adre... |
OMIM:615577 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... |
OMIM:601495 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Cryptorchidism, Delayed myelination, Short nose, Underdeveloped nasal alae, Hypoplasia of the cor... |
OMIM:615803 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Hyposmia |
OMIM:615267 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Limb ataxia, Bradykinesia, Seizure, Basal ganglia calcification, Generali... |
OMIM:618824 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Cerebral calcificat... |
OMIM:617303 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... |
ORPHA:755 |
| Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta |
|
Microcephaly, Abnormal cerebral white matter morphology, Delayed myelination |
OMIM:615905 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... |
ORPHA:397725 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Leukoencephalopathy With Ataxia |
|
Abnormal chorioretinal morphology, Leukoencephalopathy, Optic neuropathy |
OMIM:615651 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Psoriasiform de... |
OMIM:616100 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Depr... |
ORPHA:79264 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... |
OMIM:617481 |
| 8P11.2 Deletion Syndrome |
|
Cryptorchidism, Azoospermia, Anosmia, Seizure, Hypoplasia of penis, Hypogonadotropic hypogonadism... |
ORPHA:251066 |
| Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Anosmia, Depressed nasal bridge |
OMIM:113480 |
| Japanese Encephalitis |
|
Abnormality of thalamus morphology, Increased circulating IgM level, Focal T2 hyperintense thalam... |
ORPHA:79139 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Pneumonia, Hepatiti... |
ORPHA:169160 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Delayed myelination, Aggressive behavior, Seizure, Depressed nasal bridge, Hyperactivity, Microce... |
OMIM:615286 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgG level, Hypereosinophilia, Spl... |
OMIM:617388 |
| Lead Poisoning |
|
Abnormality of the menstrual cycle, Infertility, Impaired social interactions, Reduced sperm moti... |
ORPHA:330015 |
| Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... |
OMIM:614878 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... |
ORPHA:3261 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the uterus |
OMIM:614842 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
| Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Seizure, Testicular atrophy, Microcephaly, Hypogonadism |
OMIM:618165 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... |
ORPHA:91351 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea |
OMIM:614839 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Restin... |
ORPHA:3077 |
| Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia, Microcephaly, Hypogonadism |
ORPHA:2316 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... |
OMIM:618433 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... |
ORPHA:399805 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Hypoplasia of the corpus callosum, Microcephaly, Delayed myelination |
OMIM:300887 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination, Optic atrophy |
OMIM:618324 |
| Developmental And Epileptic Encephalopathy 17 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed myelination |
OMIM:615473 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... |
OMIM:618646 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulat... |
OMIM:602668 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgM level, Anti-liver cytosolic antigen type 1 antibody positivity, Antimit... |
ORPHA:562639 |
| 8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Underdeveloped nasal alae, Hypoplasia ... |
ORPHA:284160 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... |
ORPHA:443811 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Anosmia, Midnasal s... |
OMIM:147250 |
| Parkinson Disease 8, Autosomal Dominant |
|
Dementia, Lewy bodies, Resting tremor, Bradykinesia, Hyposmia, Substantia nigra gliosis |
OMIM:607060 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Subcorneal Pustular Dermatosis |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Hypothyroidism,... |
ORPHA:48377 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Delayed social development, Dystonia, Type II lissencephaly, Emotional lability, Torticollis, Spa... |
ORPHA:300570 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... |
OMIM:618213 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile rheumatoid arthritis, Decrea... |
ORPHA:275 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmunity, Abnormality... |
ORPHA:572 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... |
OMIM:618986 |
| Tick-Borne Encephalitis |
|
Increased circulating IgM level, Fatigable weakness of respiratory muscles, Leukocytosis, Abnorma... |
ORPHA:297 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, Rh... |
OMIM:615934 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Delayed myelination, Dilation of lateral ventricles, Partial agenesis of the co... |
OMIM:617296 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Pachygyria, Decreased circulating antibody level, Decreased circulating IgA level, Simplified gyr... |
OMIM:617062 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... |
OMIM:102700 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... |
ORPHA:35078 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... |
OMIM:616576 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Inability to walk, T2 hypointense thalamus, Gait ataxia, Dementia, Dysphagia, Cerebral atrophy, A... |
ORPHA:1947 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short nose, Bifid scrotum, Anosmia, Abnormality of the nares, Hypoplasia of penis, Hypogonadotrop... |
ORPHA:1295 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... |
ORPHA:69126 |
| Developmental And Epileptic Encephalopathy 3 |
|
Cerebral atrophy, Progressive microcephaly, Delayed myelination |
OMIM:609304 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Recurrent upper respira... |
ORPHA:99330 |
| Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Short n... |
ORPHA:289266 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Seizure, Exaggerated s... |
ORPHA:309246 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Panhypophysitis |
|
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... |
ORPHA:95513 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anosmia, External genital hypoplasia, Hyposmia, Hypoplasia of penis, Single naris... |
ORPHA:2250 |
| Adrenal Hypoplasia, Congenital |
|
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... |
OMIM:300200 |
| Holoprosencephaly |
|
Cryptorchidism, Panhypopituitarism, Depressed nasal tip, Dystonia, Aplasia/Hypoplasia of the corp... |
ORPHA:2162 |
| Tempi Syndrome |
|
Polycythemia, Increased circulating IgG level, Increased hematocrit |
ORPHA:284227 |
| Pulmonary Fibrosis, Idiopathic |
|
Increased circulating antibody level |
OMIM:178500 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology, Cryptorchidism, Febrile seizure (within the age range of 3 mo... |
ORPHA:404440 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ... |
ORPHA:759 |
| Tay-Sachs Disease |
|
Inability to walk, Tremor, Dystonia, Hypointensity of cerebral white matter on MRI, Depression, D... |
ORPHA:845 |
| 49,Xxxxy Syndrome |
|
Cryptorchidism, Tremor, Infertility, Azoospermia, Shyness, Overfriendliness, Depressed nasal ridg... |
ORPHA:96264 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Increased circulating IgE level, Erythroderma |
OMIM:256500 |
| Hypogonadotropic Hypogonadism 23 Without Anosmia |
|
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... |
OMIM:228300 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... |
ORPHA:2137 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Difficulty walking, Cerebral atrophy, Ataxia, Abnormal corpus callosum morphology, Abnorm... |
ORPHA:442835 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... |
OMIM:600802 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity |
ORPHA:90003 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the corpus callosum, Focal-onset seizure, Cerebral cortical atrophy, Myoclonic seiz... |
OMIM:619072 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Increased circulating IgM level, Thrombocytopenia, Cerebral calcification, Leukopenia, Anemia, De... |
ORPHA:505248 |
| Transcobalamin Ii Deficiency |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:275350 |
| C3 Glomerulopathy |
|
Autoimmunity, Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, C3 n... |
ORPHA:329918 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... |
ORPHA:168558 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Delayed myelination, Hypoplasia of the corpus callosum, Secondary microcephaly, Abnormal autonomi... |
OMIM:616683 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Microcephaly, CNS hypomyelination, Cerebral atrophy, Delayed myelination |
OMIM:615095 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Anencephaly, Retinal dysplasia, Optic nerve dysplasia, Cortical dysplasia,... |
OMIM:615287 |
| Leishmaniasis |
|
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... |
ORPHA:507 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Decreased propor... |
OMIM:613011 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Microcephaly, Abnormality of the sense of smell |
ORPHA:3201 |
| Developmental And Epileptic Encephalopathy 44 |
|
Dystonia, Delayed myelination, Poor eye contact, Hypoplasia of the corpus callosum, Cerebral atro... |
OMIM:617132 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Chronic o... |
OMIM:606367 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Adenohypophysitis |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... |
ORPHA:95512 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Delayed myelination, Abnormal cerebral white matter morphology, Cerebral cortical atrophy, Microc... |
OMIM:617668 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... |
OMIM:600903 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Choanal stenosis, Abnor... |
ORPHA:95699 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Delayed puberty, Anosmia |
OMIM:274190 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Corpus callosum atrophy, Neutropenia, Leukoencephalopathy, Secondary microcephaly, Decreased circ... |
OMIM:608809 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgM level, Antinuclear antibody positivity, Increased circula... |
ORPHA:186 |
| Superficial Siderosis |
|
Dysdiadochokinesis, Dementia, Progressive gait ataxia, Limb ataxia, Anosmia, Ataxia, Abnormal cor... |
ORPHA:247245 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Short nose, Micropenis, Anterior hypopituitarism, Depressed nasal bridge |
OMIM:241800 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Autoimmunity, Impotence, Hypopituitarism, Pituitary hypothyroidism, Seizure, Adre... |
ORPHA:91354 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Dementia, Abnormality of interleukin secretion, Fatigable weakness of skele... |
ORPHA:101096 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Netherton Syndrome |
|
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, E... |
ORPHA:634 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Delayed myelination, Cerebral white matter atrophy, Akinetic mutism, Pachygyria, Abnormal caudate... |
ORPHA:2148 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Hypothyroidism, Agoraphobia, Emotional lability, Exaggerated startle response... |
ORPHA:3198 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resista... |
ORPHA:2959 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Hypoplasia of the corpus callosum, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Ab... |
ORPHA:67045 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnorma... |
ORPHA:543470 |
| Ichthyosis And Male Hypogonadism |
|
Male hypogonadism, Anosmia, Seizure, Hypogonadotropic hypogonadism, Gonadotropin deficiency |
OMIM:308200 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... |
OMIM:614700 |
| Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... |
ORPHA:399808 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis |
OMIM:304790 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... |
ORPHA:432 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Progressive cerebellar ataxia, Testicular atrophy, Cognitive impairment, Male infert... |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cognitive impairment |
OMIM:613909 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Wolfram Syndrome 1 |
|
Tremor, Hypothyroidism, Dysphagia, Cerebral atrophy, Ataxia, Seizure, Testicular atrophy, Diabete... |
OMIM:222300 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
| Encephalitis Lethargica |
|
Autoimmunity, Increased circulating antibody level, Mental deterioration, Bilateral basal ganglia... |
ORPHA:83600 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia |
OMIM:614879 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Delayed CNS myelination, Difficulty walking, Hypoplasia of the corpus callosum, H... |
OMIM:618653 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... |
OMIM:616900 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Aceruloplasminemia |
|
Tremor, Dystonia, Gait ataxia, Akinesia, Apathy, Limb ataxia, Blepharospasm, Abnormal thalamic MR... |
ORPHA:48818 |
| Acute Disseminated Encephalomyelitis |
|
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Aggressive beh... |
ORPHA:83597 |
| Intellectual Disability-Strabismus Syndrome |
|
Narrow nasal ridge, Cryptorchidism, Delayed myelination, Aggressive behavior, Short nose, Decreas... |
ORPHA:363528 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Total anosmia, Delayed puberty, Hypogonadotropic hypogonadism, Decrease... |
ORPHA:2326 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Hypoplasia of the corpus cal... |
OMIM:614576 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total IgM, Decreased... |
OMIM:612301 |
| Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
| Tularemia |
|
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Anemia, ... |
ORPHA:3392 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Delayed myelination, Dilation of lateral ventricles |
ORPHA:85290 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia |
OMIM:617885 |
| Campomelic Dysplasia |
|
Ambiguous genitalia, Abnormality of the sense of smell, Male pseudohermaphroditism, Depressed nas... |
ORPHA:140 |
| Lichtenstein Syndrome |
|
Decreased circulating IgA level |
OMIM:246550 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Hyposmia, Anosmia, Decreased number of peripheral myelinated nerve fibers |
OMIM:608720 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly |
OMIM:201100 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... |
OMIM:242840 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Inappropriate crying, Cerebral white matter atrophy, Focal emotional seizure... |
ORPHA:79351 |
| Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology, Leukodystrophy, Basal ganglia gliosis, Diffuse white matter a... |
ORPHA:70474 |
| Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM, Microcephaly, Leukemia, Decreas... |
OMIM:210900 |
| Hermansky-Pudlak Syndrome 2 |
|
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity |
OMIM:608233 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... |
ORPHA:251510 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal cerebral white... |
ORPHA:254930 |
| Aspergillosis |
|
Increased circulating IgE level, Bronchiectasis, Pneumonia, Hepatitis, Keratitis, Encephalitis, S... |
ORPHA:1163 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48104 |
| Coccidioidomycosis |
|
Increased circulating IgM level, Granuloma, Increased circulating IgG level, Pancreatitis, Cognit... |
ORPHA:228123 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Microcephaly, Abnormal myelination |
OMIM:617333 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus |
OMIM:619057 |
| Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Thick nasal alae, Wide nasal bridge, Dysplastic corpus callos... |
ORPHA:557003 |
| Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Increased circulating IgE level, Autoimmunity, Increased circulating antibody level,... |
ORPHA:449432 |
| Pediatric-Onset Graves Disease |
|
Tremor, Anti-thyroid peroxidase antibody positivity, Increased circulating T4 level, Puberty and ... |
ORPHA:525731 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... |
OMIM:613179 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Inappropriate laughter, Delayed myelination, Hypoplasia of the corpus callosum, Dysphagia... |
ORPHA:98794 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Abnormality of the sense of smell, Uterus didelphys |
ORPHA:958 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... |
ORPHA:2570 |
| Vici Syndrome |
|
Cerebral cortical atrophy, Decreased circulating IgG level, Decreased circulating IgG2 level, Age... |
ORPHA:1493 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Atonic seizure, Hyperactivity, Micropenis, Precocious puberty, Depressed nasal bridge, ... |
ORPHA:1934 |
| Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Memory impairment,... |
ORPHA:33226 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Hypoplasia of the corpus callosum, Onion bulb format... |
ORPHA:320375 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Delayed myelination, Short nose, Hypoplasia of the corpus callosum, Dysphagia, Seizure, Cerebral ... |
OMIM:617527 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Underdeveloped nasal alae, Ataxia, Wide nasal bridge, Seizure, Exaggerated startle resp... |
ORPHA:438216 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Dysplastic corpus callosum, Polymicrogyria, Pachygyria |
ORPHA:2328 |
| Hereditary Methemoglobinemia |
|
Delayed myelination, Temporal cortical atrophy, Frontal cortical atrophy, Cerebral hypomyelinatio... |
ORPHA:621 |
| Refsum Disease, Classic |
|
Anosmia, Ataxia |
OMIM:266500 |
| Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Dysphagia, Abnormality of the sense of smell, Breast aplasia |
ORPHA:570 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... |
OMIM:617542 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Tremor, Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Axonal degeneration, Delayed CNS myelination, Optic neuropathy, Microcephaly, Optic atrophy, Reti... |
OMIM:616811 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Impaired social interactions, Shyness, Aggressive behavior, Depression, Autoimmunity, Hypothyroid... |
ORPHA:449291 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Convex nasal ridge, Delayed myelination, Hypoplasia of the corpus callosum, Seizu... |
OMIM:241410 |
| Kennedy Disease |
|
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... |
ORPHA:481 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... |
ORPHA:90791 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Cerebral white matter atrophy, Generalized myoclonic seizure,... |
ORPHA:435638 |
| Stiff-Person Syndrome |
|
Depression, Autoimmunity, Agoraphobia, Myoclonic spasms, Opisthotonus, Exaggerated startle respon... |
OMIM:184850 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Oligospermia, Clitoral hypoplasia, Waddling gait, Microcephaly, Diabetes melli... |
OMIM:614813 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... |
OMIM:301000 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Increased circulating IgE level, Chronic otitis media, Eczema, Osteomyelitis |
ORPHA:2314 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... |
OMIM:242700 |
| Even-Plus Syndrome |
|
