| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
| 46,Xy Sex Reversal 9 |
|
Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis, Sex reversal |
OMIM:616067 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| 46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| 46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
| 46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size, Intrauterine growth retardation, Short stature |
ORPHA:436144 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... |
OMIM:619220 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| 46,Xy Sex Reversal 6 |
|
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... |
OMIM:613762 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal |
OMIM:613743 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... |
OMIM:618987 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
| Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... |
OMIM:601859 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Death in childhood, Lymphopenia |
OMIM:200900 |
| Spastic Paraparesis And Deafness |
|
Short stature, Hypogonadism |
OMIM:312910 |
| Serkal Syndrome |
|
Sex reversal, Hypospadias, Growth delay, Abnormality of the adrenal glands, Abnormal penis morpho... |
ORPHA:139466 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypogonadism |
ORPHA:1383 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Micropenis |
ORPHA:85274 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... |
OMIM:607271 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Depres... |
OMIM:619491 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Inappropriate behavior, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction... |
ORPHA:401901 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... |
OMIM:308240 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... |
OMIM:613501 |
| Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism |
OMIM:615988 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Antalgic gait, Leukocytosis, Waddling gait |
ORPHA:168621 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:614023 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis, Intrauterine growth retardation |
OMIM:611812 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Increased circulating IgM level, Histio... |
OMIM:209950 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Hypogonadism, Decreased testicular size, Premature ovarian insufficiency, Cryptorc... |
ORPHA:261483 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Dyston... |
OMIM:128235 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
| Spastic Paraparesis-Deafness Syndrome |
|
Short stature, Hypogonadism |
ORPHA:2815 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... |
ORPHA:216873 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
| Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Panic attack, Agoraphobia |
OMIM:159900 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dea... |
OMIM:615592 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Schnitzler Syndrome |
|
Leukocytosis, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... |
OMIM:301082 |
| Dysosteosclerosis |
|
Optic atrophy, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebral... |
OMIM:224300 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Malabsorption, Micrognathia, Macroglossia, ... |
OMIM:242860 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circu... |
OMIM:612736 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Optic atrophy, Delayed eruption of teeth, Inc... |
ORPHA:1782 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Death in infancy, Decreased circulating antibody lev... |
OMIM:617514 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... |
OMIM:154230 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Thin bony cortex, Sea-blue histiocytosis, Optic atrophy, Hypoplastic ve... |
OMIM:230600 |
| Icf Syndrome |
|
Anemia, Decreased circulating antibody level, Malabsorption, Micrognathia, Communicating hydrocep... |
ORPHA:2268 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... |
OMIM:613494 |
| Image Syndrome |
|
Hypogonadism, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Adrenal hypoplasia |
ORPHA:85173 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, High palate, Lower limb musc... |
ORPHA:171442 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Falls, Parkinsonism, Rigidity, Apathy, Short stepped shuffling ga... |
ORPHA:306692 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Inability to walk, Emotional lability, Inappropriate laughter, Tremor, Self-... |
OMIM:616269 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Kyphosis, Hypodontia, Hypoplastic vertebral bodies, Scol... |
ORPHA:2916 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:615767 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Micrognathia, Tetraphocomelia, Epiphyseal stipplin... |
OMIM:215140 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:146110 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Mandibular prognathia, Optic atrophy, Delayed eruption of teeth, Short metac... |
OMIM:101800 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Increased circulating... |
ORPHA:277 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Decreased T cell activation, Hemolytic anemia, Decreased circulating IgE, Impaired ... |
OMIM:308230 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... |
OMIM:213600 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
| Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... |
OMIM:617258 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Myopathy, Centronuclear, 5 |
|
Retrognathia, Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Micrognat... |
OMIM:615959 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... |
OMIM:619705 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... |
OMIM:619510 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety |
OMIM:141500 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, High palate, Centrally nucleated skeletal muscle fibers, Gene... |
OMIM:255200 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
| Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Hyperlordosis, Hip contracture, Centrally nucleated skeletal muscle fibers, General... |
ORPHA:169186 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Ir... |
OMIM:612126 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... |
ORPHA:71517 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depressi... |
OMIM:604326 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism |
OMIM:615987 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618261 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Short stature, Hypospadias, Delayed puberty, Hypogonadotropic hypogonadism |
ORPHA:141333 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, High palate, Centrally nucleated skeletal muscle ... |
OMIM:255320 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Decreased circulating antibody level, Leukocytosis, Death in adolescence, Death... |
OMIM:618042 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Patent ductus arteriosus, Bifid uvula, Hydrocephalus, Protruding tongue, Alveolar r... |
OMIM:612938 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of a... |
ORPHA:521406 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Richieri Costa-Da Silva Syndrome |
|
Generalized bone demineralization, Diastasis recti, Decreased muscle mass, Vertebral wedging, Lim... |
ORPHA:3101 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... |
ORPHA:331206 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia, Spastic paraplegia |
OMIM:610181 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Decreased circulating IgG level |
OMIM:152800 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Mandibular prognathia, Narrow palate, Low anterior hairline, Abnormal isohemagglutinin le... |
ORPHA:99843 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Tremor,... |
ORPHA:240085 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Hyperlordosis, Centrally ... |
OMIM:617760 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe... |
ORPHA:163976 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... |
OMIM:618048 |
| Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Optic atrophy, Gingival overgrowth, Protrudi... |
ORPHA:561 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Depression, Anxiety,... |
OMIM:618093 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... |
OMIM:618394 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Nemaline bodies, Cleft palate, Arthrogryposis multip... |
OMIM:256030 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Huntington Disease-Like 2 |
|
Chorea, Inertia, Rigidity, Apathy, Action tremor, Depression, Anxiety, Irritability, Dystonia, Br... |
OMIM:606438 |
| Gm1-Gangliosidosis, Type I |
|
Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Hypertrichosis, Short neck, Scoliosis, ... |
OMIM:230500 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:619652 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... |
ORPHA:2442 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth,... |
ORPHA:2412 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper li... |
OMIM:160150 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Ataxia,... |
OMIM:615362 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Short stature, Decreased testicular size, Increased circulating gonadotropin level,... |
OMIM:300869 |
| King-Denborough Syndrome |
|
High palate, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Deep philtrum, Tho... |
OMIM:619542 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Microdontia, Synophrys, Atlantoaxial dislocation, Optic nerve hypoplasia, Th... |
OMIM:602535 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, High palate, Centrally nucle... |
OMIM:602771 |
| Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... |
OMIM:212840 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, High palate, Centrally nucleated skeletal muscle ... |
ORPHA:486815 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Shoulder girdle muscle atrophy, Scapular winging, Upper limb muscle weakn... |
ORPHA:437572 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... |
ORPHA:79345 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Spinal rigid... |
OMIM:608423 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Irritability, Dystonia |
OMIM:261630 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Decreased circulating total IgM, Monocytopenia, Decreased prop... |
OMIM:619802 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Wide anterior fontanel, Hydrocephalus, Abnormal cortical bone morpholog... |
OMIM:614886 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Short stature, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, High palate, Centrally nucleated skeletal muscle fibers, Calf muscle... |
OMIM:255160 |
| 3Mc Syndrome 2 |
|
Partial abdominal muscle agenesis, Diastasis recti, Cleft upper lip, Limited elbow movement, High... |
OMIM:265050 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
| Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Severe short stature,... |
OMIM:275400 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Micrognathia, Short distal phalanx of finger, Cleft palate, Glossoptosis |
OMIM:311895 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Wrist drop, Centrally nucleated sk... |
OMIM:616852 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Raine Syndrome |
|
Increased bone mineral density, Micrognathia, Microdontia, Short neck, Cleft palate, Gingival ove... |
OMIM:259775 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, High palate, Spinal rigidity... |
ORPHA:171439 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Sl... |
ORPHA:255 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Hypogonadism, Cryptorchidism |
OMIM:615982 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased... |
OMIM:300310 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Hypogonadism |
OMIM:615270 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati... |
ORPHA:2410 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Growth delay, Hypogonadism |
ORPHA:2528 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Flexion contracture, Optic atrophy, Synophrys, Long... |
OMIM:617303 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Wide mouth, Long eyelashes, Diastema, Everted lower lip vermilion, Protruding tongu... |
OMIM:212066 |
| Down Syndrome |
|
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Acute megakaryocyti... |
ORPHA:870 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Optic atrophy, Bifid uvula, Abnormal oral frenulum morphology, Smoot... |
OMIM:200990 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand t... |
ORPHA:98764 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Thrombocytopenia, Irritability, Dystonia,... |
OMIM:615010 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Wide mouth, Thick lower lip vermilion, Broad a... |
OMIM:252940 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... |
OMIM:615559 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
| Caudal Regression Syndrome |
|
Decreased muscle mass, Arrhinencephaly, Missing ribs, Anal atresia, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Elevated circulating creatin... |
ORPHA:276435 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... |
OMIM:301081 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Increased bone mineral density, Micrognathia, Short finger, Hy... |
ORPHA:628 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Hyperlysinuria, Spastic diplegia, Citrullinuria, Abnormality of circ... |
ORPHA:3124 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, High palate, Wide anterior fontanel, High, narrow palate, Micrognathia,... |
OMIM:214100 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hy... |
ORPHA:1643 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Moynahan Syndrome |
|
Short stature, Hypogonadism |
ORPHA:2574 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Myopathy, spheroid body |
|
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration |
OMIM:182920 |
| Endocrine-Cerebroosteodysplasia |
|
Ambiguous genitalia, Sex reversal, Microphallus, Hypospadias, Cryptorchidism, Small scrotum, Adre... |
OMIM:612651 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, E... |
OMIM:614753 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Short mi... |
OMIM:156510 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate |
ORPHA:718 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Hyperextensibility at w... |
ORPHA:75840 |
| Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Short ribs, Hypoplastic vertebral b... |
ORPHA:2347 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Prominence of the premaxilla, Everted lower lip vermilion, Open mouth |
OMIM:137550 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, High palate, Centrally nucleated skeletal muscle fibers, Death in infancy, Joint hy... |
OMIM:300219 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Splenomegaly, Flexion contracture, Hyperlordosis,... |
OMIM:613327 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... |
OMIM:615924 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
| Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level, Miscarriage |
ORPHA:448237 |
| Cohen Syndrome |
|
Leukopenia, Short metatarsal, Macrodontia of permanent maxillary central incisor, Optic atrophy, ... |
OMIM:216550 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abnormal aggressive,... |
ORPHA:3077 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Micrognathia, Oral synechia, Joint hyperflexibility, Scoliosis, Malar fl... |
ORPHA:1388 |
| Diastrophic Dysplasia |
|
Hip contracture, Cervical kyphosis, Short finger, Kyphoscoliosis, Hypoplastic cervical vertebrae,... |
OMIM:222600 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Long philtrum, Wide mouth, Death in infancy, Micrognathia, Protruding tongue, Short ... |
OMIM:618580 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Ectopic ossification in ligament tissue, Short 1st metacarpal, Widely spaced teeth, Sma... |
OMIM:135100 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
| Lessel-Kubisch Syndrome |
|
Short stature, Hypogonadism |
OMIM:618681 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, High anterior hairline, Cleft upper lip, Abnormality of the cervical spi... |
ORPHA:915 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, High palate, Diaphragmat... |
OMIM:614399 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr... |
OMIM:610628 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Spinal rigidity, Sco... |
OMIM:617066 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
| Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Short ribs, Short foot, Rhi... |
OMIM:228520 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Depression, Dystonia, Bradykinesia |
ORPHA:306669 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Decreased circulating antibody level, Micrognathia, Synophrys, Joint hypermobility, ... |
OMIM:617062 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Splenomegaly, Death in infancy, Micrognathia, Hypertrichosis, Narrow mouth, Skeleta... |
OMIM:608779 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
| Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Fair hair, Macroglossia, Hypoplasia of th... |
OMIM:105830 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ... |
OMIM:615816 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Reduced alpha/beta synthesis ratio, Kyphosis, Thick lower lip vermilion, M... |
OMIM:301040 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... |
OMIM:614018 |
| Crandall Syndrome |
|
Hypoplasia of penis, Hypogonadism, Abnormal testis morphology |
ORPHA:202 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mel... |
ORPHA:2234 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasti... |
OMIM:136760 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Babinski sign,... |
ORPHA:251282 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... |
ORPHA:2635 |
| X-Linked Centronuclear Myopathy |
|
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... |
ORPHA:596 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Bardet-Biedl Syndrome 16 |
|
|
