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 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Depre... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:606843 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Ataxia, Dysphagia, Tremor |
OMIM:615945 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... |
OMIM:614561 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
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, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:146110 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Torticollis, Limb dystonia, Unsteady gait, Postural tremor... |
ORPHA:210571 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Spinocerebellar Ataxia 40 |
|
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... |
OMIM:616053 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Sandhoff Disease, Adult Form |
|
Spasticity, Focal dystonia, Dysphagia, Gait ataxia, Tremor, Fasciculations, Dystonia |
ORPHA:309169 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Babinski sign, Ataxia, Tremor |
OMIM:611105 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619707 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... |
ORPHA:216873 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
Geniospasm 1 |
|
Anxiety, Chin myoclonus |
OMIM:190100 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Personality disorder, Anxiety, Panic attack, Myoclonus, Depression, Spinal myoclonus |
ORPHA:36899 |
Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor |
OMIM:141500 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:613502 |
Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Bilateral tonic-clonic seizure, Mental deterioration, Myoclonus, Depression |
OMIM:619191 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Unsteady gait, Dysphagia, Bradykinesia, Tremor, Dystonia |
OMIM:128235 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... |
ORPHA:168782 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... |
ORPHA:98762 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Gait disturbance, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Unsteady gait, Chorea, Tremor, Hemiballismus |
ORPHA:494526 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Death in childhood, Agitation, Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Tremor, Myoclonus, Dyst... |
OMIM:615924 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia, Bifid nose |
OMIM:614838 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Dysph... |
ORPHA:251282 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Testicular atrophy, Primary amenorrhea, Decreased fema... |
ORPHA:52901 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Corticobasal Syndrome |
|
Limb myoclonus, Limb dystonia, Parkinsonism, Gait disturbance, Oromotor apraxia, Speech apraxia, ... |
ORPHA:454887 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hyposmia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Primary amenorrhea, Choanal atresia, Hyposmia, Anosmia, Agenesis of corpus callosum, Hypogonadotr... |
OMIM:147950 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia |
OMIM:613500 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating total IgM, Decreased circulating IgG level... |
OMIM:618944 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:612702 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus... |
ORPHA:363710 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... |
ORPHA:314632 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:610628 |
Dystonia 11, Myoclonic |
|
Torticollis, Alcoholism, Writer's cramp, Tremor, Myoclonus |
OMIM:159900 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... |
OMIM:617284 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 lev... |
OMIM:300310 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dysarthria, ... |
ORPHA:314978 |
Huntington Disease-Like 2 |
|
Subcortical dementia, Apathy, Anxiety, Dementia, Irritability, Inertia, Memory impairment, Depres... |
OMIM:606438 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Anxiety, Febrile seizure (wi... |
ORPHA:101039 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, ... |
OMIM:150550 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Dysphagia, Tremor, Fasciculations, Upper motor neuron dysfun... |
ORPHA:276435 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Loss of ambulation, Scissor gait, Tremor, Bradykinesia, O... |
ORPHA:521406 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... |
OMIM:300400 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
Immunodeficiency 62 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Short nose, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Gait disturbance, Retrocollis, Postural tre... |
OMIM:612067 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... |
ORPHA:306692 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dysphagia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impaired tandem gait, Tremor, Myoclonus, Dysmetria, Lower limb spasticity, Impulsivity |
OMIM:619028 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Rigidity, Chorea, Dysdiadochokinesis, Br... |
OMIM:213600 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:612692 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Frequent falls, Limb dystonia, Hand tremor, Difficulty w... |
ORPHA:53351 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
Rapid-Onset Dystonia-Parkinsonism |
|
Parkinsonism, Torticollis, Limb dystonia, Dysphagia, Gait ataxia, Bradykinesia, Resting tremor, C... |
ORPHA:71517 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis |
OMIM:618449 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria |
OMIM:617917 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Decreased circulating antibody level, Agammaglobul... |
OMIM:615206 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:244200 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level |
OMIM:619773 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... |
ORPHA:240094 |
Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Akinesia |
OMIM:614203 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Disinhibition, Rigidity, Chorea, Dysphagia, Brad... |
OMIM:606159 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Difficulty walking, Lateral ventricle dilatation, Tremor, Bradykinesia... |
ORPHA:306669 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Agenesis of corpus callosum, Dysmetria |
OMIM:610245 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Simplified gyral pattern, Tremor, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Hypogonadism |
OMIM:615996 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Difficulty walking, Blepharospasm, Generalized dystonia, Tremor, Tors... |
ORPHA:99657 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Secondary amenorrhea, Azoospermia, Abnormality of the sense of smell, Abnormal sp... |
OMIM:228300 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dystonia, Ataxia, Loss of ambulation, Dysphagia, Tremor, Lower limb spasticity, Dysmetria |
OMIM:617916 |
Huntington Disease |
|
Abnormal libido, Memory impairment, Mental deterioration, Abnormality of the sense of smell, Brad... |
ORPHA:399 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Gait disturbance, Rigidity, Tremor, Gait ataxia, Dysmetria |
OMIM:618090 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradyki... |
ORPHA:240085 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618433 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypogonadism, Primary amenorrhea, Hyposmia, Azoospermia, Anosmia |
OMIM:614897 |
Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Lateral ventricle dilatation, Bradykin... |
ORPHA:363654 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... |
ORPHA:391411 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria |
OMIM:607458 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Primary amenorrhea |
OMIM:614880 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Glutathionuria |
|
Dysdiadochokinesis, Tremor, Gray matter heterotopia, Action tremor, Agenesis of corpus callosum |
OMIM:231950 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... |
ORPHA:101096 |
Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis, Splenomegaly, N... |
OMIM:308240 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Hyperactivity, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Unsteady gait, Agitation, Ankle clonus, Dysphagia, Bradykine... |
OMIM:617435 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Inability to walk, Limb fasciculations, Dysphagia, ... |
ORPHA:90117 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Attention deficit hyperactivity disorder, Ataxia, Tremor |
OMIM:616421 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... |
ORPHA:2590 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Rigidity, Dysphagia, Tremor, Lethargy, Choreoathetosis, ... |
OMIM:233910 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoporosis, Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... |
ORPHA:397946 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Difficulty walking, Myoclonus |
OMIM:613608 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Hydrocephalus |
ORPHA:377 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Parkinsonism with favorable resp... |
OMIM:606693 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Ataxia, Tremor |
OMIM:618637 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Unsteady gait, Ataxia, Clumsiness, Chorea, Dysphagia, Tremor, Myocl... |
ORPHA:79263 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia, Azoospermia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614837 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Polymicrogyria, Parkinsonism, Inability to walk, Head titubation, Rigidity, Tremor, B... |
OMIM:618877 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Rigidity, Dysphagia, Tremor, Myoclonus, Choreoathetosis, Spastic parapa... |
ORPHA:391417 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
OMIM:600363 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... |
OMIM:617145 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
Specific Granule Deficiency 2 |
|
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... |
OMIM:619220 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, S... |
ORPHA:99750 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia, Hypoplasia of the ovary, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614841 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619705 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Dysphagia, Bradykinesia, Tremor, Hypertonia, Cho... |
OMIM:261640 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Primary amenorrhea |
OMIM:616030 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Ataxia-Oculomotor Apraxia 4 |
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Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Immunodeficiency 15B |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615592 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Unsteady gait, Ataxia, Spastic ataxia, Dysphagia, Tremor, Spastic gait, ... |
OMIM:616795 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
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Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
Dopa-Responsive Dystonia |
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Parkinsonism, Inability to walk, Leg dystonia, Poor coordination, Gait disturbance, Difficulty wa... |
ORPHA:255 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
Pelger-Huet Anomaly |
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Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Classic Progressive Supranuclear Palsy Syndrome |
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Abnormal pyramidal sign, Parkinsonism, Falls, Blepharospasm, Axial dystonia, Parkinsonism with fa... |
ORPHA:240071 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Action tremor, Hypertoni... |
OMIM:619738 |
Epilepsy, Progressive Myoclonic, 6 |
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Difficulty walking, Ataxia, Loss of ambulation, Tremor, Myoclonus |
OMIM:614018 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Cognitive impairment, Dementia, Frontal lobe dementia, Hyposmia, Male ... |
ORPHA:2828 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Spasticity, Death in early adulthood, Ataxia, Postural tremor, Loss of ambulation, Dysphagia, Tre... |
OMIM:607694 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Cognitive impairment, Dementia, Infert... |
ORPHA:320391 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Dysphagia, Ga... |
OMIM:615157 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria |
OMIM:213200 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Anosmia, Hyposmia |
OMIM:243000 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired T cell function, Parti... |
OMIM:240500 |
Progressive Supranuclear Palsy |
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Unsteady gait, Falls, Blepharospasm, Rigidity, Dysphagia, Bradykinesia, Abnormal synaptic transmi... |
ORPHA:683 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor, Freezing of ga... |
OMIM:619911 |
Behr Syndrome |
|
Frequent falls, Progressive spasticity, Gait disturbance, Unsteady gait, Ataxia, Dysphagia, Tremo... |
OMIM:210000 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:615387 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... |
OMIM:301078 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Difficulty walking, Dysphagia, Tremor, Myoclonus, Tongue fasciculations |
OMIM:159950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Dysphagia, Tremor, Torsion dystonia |
OMIM:224500 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Gait disturbance, Hand tremor, Difficulty walking, Paraparesis, Tip-toe gait, Dys... |
OMIM:302800 |
Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Anosmia, Hyposmia, Hypogonadism |
OMIM:615994 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiadochokinesis, Tremor, Incoordinati... |
OMIM:618049 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... |
OMIM:238600 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal atax... |
OMIM:610185 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Pancytopenia, Hemophagocytosis, Splenomegaly |
ORPHA:79477 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... |
OMIM:607483 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Atypical Rett Syndrome |
|
Spasticity, Limb myoclonus, Inability to walk, Gait disturbance, Agitation, Apraxia, Loss of ambu... |
ORPHA:3095 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormality of the sense of smell, Agenesis of corpu... |
ORPHA:2189 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:614069 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Chronic rhinitis, Male infertility, Recurrent bronchitis, Recurrent sinusitis |
OMIM:617091 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Steppage gait, Tremor, Gait ataxia, Dysmetria |
OMIM:618387 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:101075 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Inability to walk, Gait disturbance, Clumsiness, Ankle c... |
OMIM:617013 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... |
OMIM:183090 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Metrorrhagia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:520 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Apraxia, Shuffling gait, Tremor, Bradyki... |
OMIM:300055 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Gait disturbance, Short stepped shuffling gait, Rigidity, Shuffling gait, Dysphagia... |
OMIM:615530 |
Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Tr... |
ORPHA:98764 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Lymphopenia, Cutaneous abscess, Neutropenia |
OMIM:619752 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Dysphagia, T... |
OMIM:128100 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Short nose, Hypogonadotropic hypogonadism, Abnormal nostril morphology |
ORPHA:1295 |
Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... |
OMIM:304790 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia |
ORPHA:139485 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Tremor, Incoordina... |
OMIM:608768 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Anosmia, Abnormal nasopharynx mor... |
OMIM:147250 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Male infertility, Anosmia, Recurr... |
OMIM:244400 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... |
OMIM:612736 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysm... |
OMIM:614831 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Neutropenia, Anemia |
OMIM:619835 |
Immunodeficiency 60 And Autoimmunity |
|