| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
| Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
| Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
| Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... |
OMIM:614561 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... |
ORPHA:208441 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea |
OMIM:146110 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors |
OMIM:159900 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Focal dystonia, Violent behavior, Frequent falls, Chorea, Limb dystonia, Upper motor ... |
ORPHA:216873 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Dystonia 16 |
|
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... |
ORPHA:210571 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Death in childhood, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... |
OMIM:620482 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Dystonia 12 |
|
Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Bradykinesia, Dysphagia |
OMIM:128235 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... |
OMIM:260300 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence |
OMIM:604250 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... |
ORPHA:101110 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... |
ORPHA:251282 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Azoospermia, Abnormality of the sense of smell, Primary amenorrhea, Infertility |
OMIM:229070 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... |
OMIM:302500 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Inappropriate laughter, Self-mutilation, Tremor, Aggressive behavior, Waddling... |
OMIM:616269 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... |
ORPHA:98762 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereot... |
OMIM:619470 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Hyperactivity, Ataxia, Dystoni... |
ORPHA:599373 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... |
OMIM:128230 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell |
ORPHA:1135 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... |
OMIM:615924 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Bifid nose, Anosmia, Hyposmia |
OMIM:614838 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hyposmia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Anosmia, Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Primary ame... |
OMIM:147950 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... |
ORPHA:314632 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Frequent fal... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Hyposmia, Primary amenorrhea |
OMIM:612702 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Hyposmia, Primary amenorrhea |
OMIM:610628 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorable response t... |
OMIM:616710 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Fasciculations |
OMIM:615048 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... |
OMIM:618944 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... |
ORPHA:521406 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... |
ORPHA:71517 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Anosmia |
OMIM:619755 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Immunodeficiency 62 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Oppositional defiant disorder, Myoclonus, Dysmetria, Tremor, Impaired tandem gait, Lower limb spa... |
OMIM:619028 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia |
ORPHA:276435 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose |
OMIM:302950 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... |
OMIM:213600 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... |
OMIM:620438 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... |
ORPHA:314978 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia, Hyperton... |
OMIM:617435 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br... |
ORPHA:306669 |
| Immunodeficiency 18 |
|
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ... |
ORPHA:240085 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia, Dysphagia |
OMIM:618093 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Hyposmia, Primary amenorrhea |
OMIM:244200 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Disinhibition, Rigidity, Babinski ... |
OMIM:606159 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... |
OMIM:300423 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Agenesis of corpus callosum, Babinski sign |
OMIM:610245 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Azoospermia, Abnormality of the sense of smell, Hypogonadotropic hypogonadism,... |
OMIM:228300 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... |
OMIM:600116 |
| Huntington Disease |
|
Mental deterioration, Memory impairment, Abnormality of the sense of smell, Abnormal libido, Brad... |
ORPHA:399 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... |
ORPHA:99750 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia |
OMIM:617916 |
| Kleine-Levin Syndrome |
|
Transient global amnesia, Parosmia, Confusion, Decreased libido, Cognitive impairment |
ORPHA:33543 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Azoospermia, Primary amenorrhea, Hyposmia |
OMIM:614897 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsin... |
ORPHA:2590 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto... |
OMIM:619738 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM |
OMIM:617638 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Lateral ventricle dilatation, Cogwheel rigidity,... |
ORPHA:363654 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis |
OMIM:618449 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... |
ORPHA:3095 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Aggressive behav... |
OMIM:606693 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... |
ORPHA:391411 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hypercholesterolemia, Hyperuricemia, Hyperostosis frontalis interna |
ORPHA:77296 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation... |
OMIM:615157 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Primary amenorrhea |
OMIM:614880 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,... |
ORPHA:98764 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-positive helper... |
ORPHA:101096 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Glutathionuria |
|
Action tremor, Tremor, Agenesis of corpus callosum, Gray matter heterotopia, Dysdiadochokinesis |
OMIM:231950 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea |
OMIM:614839 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Ziegler-Huang Syndrome |
|
Hypogonadism, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bradykinesia |
ORPHA:329284 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Aggress... |
ORPHA:3077 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... |
ORPHA:397946 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hyposmia |
OMIM:615996 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
| Young-Onset Parkinson Disease |
|
Male sexual dysfunction, Female sexual dysfunction, Frontal lobe dementia, Short attention span, ... |
ORPHA:2828 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... |
OMIM:612736 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... |
ORPHA:79263 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Azoospermia, Anosmia, Primary amenorrhea |
OMIM:614837 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Tremor, Fatiguable weakness of proximal limb muscles, Dys... |
ORPHA:90117 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Tremor, Ataxia |
OMIM:618637 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... |
OMIM:240500 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Polymicrogyria, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rig... |
OMIM:618877 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... |
OMIM:617145 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Primary amenorrhea |
OMIM:616030 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Dysp... |
OMIM:261640 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Anosmia, Primary amenorrhea |
OMIM:614841 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
| Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Dysphagia, Choreoathe... |
ORPHA:391417 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:619281 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hypera... |
OMIM:618718 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
| Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... |
OMIM:616795 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Death in early adulthood, Dysmetria, Tremor, Loss of ambulation, Bab... |
OMIM:607694 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... |
ORPHA:240071 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
| Behr Syndrome |
|
Frequent falls, Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unste... |
OMIM:210000 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Anosmia, Hyposmia |
OMIM:243000 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... |
OMIM:619911 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Bruxism, Death in childhood, Self-mutilation, Tremor, Ataxia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:619422 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Dysphagia |
OMIM:159950 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Frequent falls, Difficulty walking, Incoordination, Dysmetria, Tremor,... |
OMIM:302800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia |
OMIM:618587 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Cognitive impairment, Abnormal sperm head morphology, Reduced sperm motility, Dement... |
ORPHA:320391 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Anosmia, Cognitive impairment, Hyposmia |
OMIM:615994 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxism, Tremor, Dystoni... |
OMIM:300055 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Frequent falls, Chorea, Gait ataxia, Action ... |
OMIM:607483 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation |
OMIM:619405 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia |
OMIM:618387 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Wide nasal bridge, Anosmia |
OMIM:210745 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... |
OMIM:617013 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... |
OMIM:183090 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Dysphagia, Choreoa... |
OMIM:233910 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... |
OMIM:615530 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bra... |
OMIM:300894 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus, Abnormality of the sense of smell, Agenesis of corpus callosum |
ORPHA:2189 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Gait ataxia, Obsessive-compulsive trait, Dysmetria, Disinhibitio... |
OMIM:300623 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Torticollis, Hyper... |
OMIM:128100 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morphology, Short nose |
ORPHA:1295 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Immunodeficiency 52 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... |
OMIM:617514 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Anosmia, Azoospermia, Hypogonadotropic hypogonadism, Testicular atrophy, Hyposmia |
OMIM:308700 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent sinusitis, Reduced sperm motility |
OMIM:619436 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:618394 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... |
OMIM:618534 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Primary Progressive Freezing Gait |
|
Shuffling gait, Frequent falls, Difficulty walking, Postural tremor, Gait imbalance, Restless leg... |
ORPHA:75567 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, T... |
ORPHA:206443 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia |
ORPHA:528 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia |
OMIM:617810 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... |
OMIM:147250 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| 4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... |
ORPHA:544254 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Dysphagia, Impulsi... |
ORPHA:683 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Perry Syndrome |
|
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Disinhibition, Rigidity, ... |
OMIM:168605 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Aggressive behavior, Parkinson... |
OMIM:137440 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus, Male infertility |
OMIM:244400 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Att... |
ORPHA:52368 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
| Pgm3-Cdg |
|
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... |
ORPHA:443811 |
| Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Neutropenia |
OMIM:250940 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Kallmann Syndrome |
|
Anosmia, Decreased fertility, Hypogonadotropic hypogonadism, Dyspareunia, Primary amenorrhea, Ere... |
ORPHA:478 |
| Peroxisome Biogenesis Disorder 5B |
|
Death in childhood, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Johnson Neuroectodermal Syndrome |
|
Hypogonadism, Choanal atresia, Anosmia, Bulbous nose |
ORPHA:2316 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Congenital Enterovirus Infection |
|
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:292 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... |
ORPHA:36387 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... |
ORPHA:157846 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... |
ORPHA:442835 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Anosmia |
OMIM:308750 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hyperchol... |
ORPHA:2457 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Recurrent sinusitis, Male infertility, Chronic rhinitis |
OMIM:617091 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... |
OMIM:312080 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility |
OMIM:615500 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:47 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Neutropenia, Thrombocyto... |
OMIM:227650 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Death in infancy, Dystonia, Dysphagia, Choreoathetosis |
OMIM:617664 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine... |
OMIM:168600 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Seizure |
ORPHA:309246 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia |
OMIM:612126 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:98773 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... |
ORPHA:137898 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619510 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... |
ORPHA:96 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Limb dystonia, Myoclonus, Tremor,... |
ORPHA:363400 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia |
OMIM:275350 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169160 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Abnormality of the sense of smell |
OMIM:616113 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:301081 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... |
OMIM:600901 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Tremor, Rigidity |
OMIM:616361 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic rhinitis, Immotile sperm, Reduced sperm motility |
OMIM:612650 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... |
OMIM:168601 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... |
OMIM:615673 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia |
OMIM:302060 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Tremor, Fasciculations |
OMIM:313200 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... |
OMIM:612783 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia |
OMIM:242900 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility |
OMIM:612649 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ... |
ORPHA:765 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... |
OMIM:614381 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... |
OMIM:617710 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... |
OMIM:614700 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
| Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
| Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:540 |
| Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Immotile sperm, Recurrent sinusitis, Male infertility |
OMIM:614874 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... |
OMIM:614298 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism, Resting tremor, Rigidity |
OMIM:614251 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Recurrent sinusitis, Reduced sperm motility, Infertility, Rhinitis |
OMIM:615444 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:613990 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... |
OMIM:241600 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:79240 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... |
ORPHA:199351 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... |
OMIM:227645 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Blepharospasm, Spasticity, Akinesia, Obsessive-compulsive trait, Tremor, Rigidity, D... |
OMIM:234200 |
| Lead Poisoning |
|
Memory impairment, Decreased male libido, Abnormality of the menstrual cycle, Decreased female li... |
ORPHA:330015 |
| Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
| Meningioma |
|
Transient global amnesia, Memory impairment, Abnormality of the sense of smell, Hypogonadotropic ... |
ORPHA:2495 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:613807 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han... |
ORPHA:98794 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia |
OMIM:619574 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Hypercholesterolemia, Calc... |
OMIM:248370 |
| Holoprosencephaly |
|
Choanal atresia, Depressed nasal ridge, Anosmia, Spinal dysraphism, Aplasia/Hypoplasia involving ... |
ORPHA:2162 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Gorlin Syndrome |
|
Wide nasal bridge, Hypogonadotropic hypogonadism, Hydrocephalus, Abnormality of the sense of smell |
ORPHA:377 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:264580 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
| 8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose |
ORPHA:284160 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis,... |
ORPHA:244 |
| 8P11.2 Deletion Syndrome |
|
Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Hypogonadotropic hypogonadism |
ORPHA:251066 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:615758 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abnormality of th... |
ORPHA:906 |
| Superficial Siderosis |
|
Anosmia, Partial anosmia, Memory impairment, Dysgyria, Cognitive impairment, Dementia |
ORPHA:247245 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating IgA level |
OMIM:618282 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy |
OMIM:176500 |
| Refsum Disease |
|
Anosmia |
ORPHA:773 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... |
ORPHA:470 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:90051 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Agenesis of corpus callosum |
ORPHA:3157 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Reduced sperm motility |
OMIM:615434 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Nasal polyposis, Immotile sperm |
OMIM:613808 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Immunodeficiency 9 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612782 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Hyposmia, Hypogonadism, Absent nares, Single naris |
ORPHA:2250 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia |
ORPHA:2326 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Immotile sperm, Chronic rhinitis |
OMIM:242670 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Reduced sperm motility |
OMIM:608647 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level |
OMIM:618048 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Mhc Class Ii Deficiency 1 |
|
Neutropenia |
OMIM:209920 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... |
ORPHA:99027 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... |
ORPHA:90674 |
| Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Abnormality of the sense of smell |
ORPHA:570 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... |
OMIM:557000 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Rigidit... |
ORPHA:48818 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
ORPHA:37042 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level |
OMIM:616005 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia |
OMIM:607944 |
| Tay-Sachs Disease |
|
Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, Frequent falls, Fasc... |
ORPHA:845 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... |
OMIM:176270 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... |
OMIM:227646 |
| Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia |
ORPHA:228119 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Aplasia of the nose |
OMIM:603457 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At... |
OMIM:612716 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia |
OMIM:300755 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia |
OMIM:619718 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Increased circulating IgM level |
OMIM:242860 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Depressed nasal bridge, Hypogonadism, Prominent nasal bridge, Short atten... |
ORPHA:110 |
| Hereditary Late-Onset Parkinson Disease |
|
Dementia, Mental deterioration, Hyposmia |
ORPHA:411602 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemi... |
ORPHA:79259 |
| Leopard Syndrome 1 |
|
Depressed nasal ridge, Delayed menarche, Hypoplasia of the ovary, Spina bifida occulta, Hyposmia |
OMIM:151100 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Increased circulating IgG level, Eosinophilia, Decreased circula... |
OMIM:243700 |
| Vici Syndrome |
|
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... |
OMIM:242840 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Oral-pharyngeal dysphagia, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, A... |
ORPHA:2131 |
| Waardenburg Syndrome, Type 4C |
|
Hypogonadism, Anosmia |
OMIM:613266 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... |
OMIM:601104 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgA level |
OMIM:617388 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Neutropenia, Leukemia, Infertility |
ORPHA:2909 |
| Whim Syndrome |
|
Abnormal neutrophil morphology, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Revesz Syndrome |
|
Macrocytic anemia, Aplastic anemia, Neutropenia |
OMIM:268130 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil... |
OMIM:613179 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Hypogonadism, Anemia, Neutropenia, Leukemia, Premature ovarian insufficiency |
ORPHA:221008 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... |
OMIM:102700 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia |
ORPHA:54251 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... |
OMIM:606367 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Trichothiodystrophy |
|
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia |
ORPHA:33364 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Neutropenia |
ORPHA:79430 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... |
ORPHA:221139 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, At... |
OMIM:615356 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
| Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia |
OMIM:617099 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia |
OMIM:232220 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Niemann-Pick Disease Type C |
|
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Chorea... |
ORPHA:646 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Charge Syndrome |
|
Depressed nasal bridge, Choanal atresia, Anosmia, Hypogonadotropic hypogonadism, Attention defici... |
ORPHA:138 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Tip-toe gait, Decerebrate rigidity, Incoordination, Tremor, Gait disturbance,... |
ORPHA:512 |
| Pearson Syndrome |
|
Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s... |
ORPHA:699 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Anemia, Aplastic anemia, Neutropenia |
ORPHA:221016 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... |
ORPHA:331235 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia |
OMIM:609136 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolem... |
ORPHA:534 |
| Amoebiasis Due To Free-Living Amoebae |
|
Confusion, Hyposmia |
ORPHA:68 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Rickets, Osteomalacia, Elevated circulating creatine k... |
OMIM:309000 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Neonatal death, Death in infancy, Clonus, Hypertonia, Dystonia, Dysphagia, Patent ductus ... |
OMIM:617248 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia |
OMIM:618653 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple... |
ORPHA:228426 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
| Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level |
OMIM:613385 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... |
OMIM:620565 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:615934 |
| Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
| Wilson Disease |
|
Dementia, Hyposmia |
OMIM:277900 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul... |
ORPHA:183675 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... |
ORPHA:90363 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... |
OMIM:208900 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia |
OMIM:232240 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level |
OMIM:613327 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:125 |
| Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level |
OMIM:212750 |
| Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Familial Mediterranean Fever |
|
Orchitis, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:249100 |
| Charge Syndrome |
|
Holoprosencephaly, Hypogonadotropic hypogonadism, Choanal atresia, Anosmia |
OMIM:214800 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
| Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Anosmia |
ORPHA:2363 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... |
OMIM:619534 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449395 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... |
ORPHA:353281 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:620376 |
| Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
| Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... |
ORPHA:297 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas... |
ORPHA:2298 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
OMIM:619381 |
| Coccidioidomycosis |
|
Increased circulating IgG level, Eosinophilia, Increased circulating IgM level |
ORPHA:228123 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... |
ORPHA:353277 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
| 15Q13.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Seizure |
ORPHA:199318 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia |
OMIM:619991 |
| Renal Cysts And Diabetes Syndrome |
|
Reduced sperm motility |
OMIM:137920 |
| Carney Complex |
|
Abnormal sperm motility, Paranasal sinus neoplasm, Neoplasm of the pharynx, Oligozoospermia, Decr... |
ORPHA:1359 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM |
ORPHA:83617 |
| Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:1304 |
| Viss Syndrome |
|
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level... |
OMIM:619472 |
| Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
