Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... |
OMIM:614372 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... |
OMIM:616022 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria,... |
ORPHA:251282 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, ... |
OMIM:613501 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia |
ORPHA:98934 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Progressive extrapyramidal movement... |
ORPHA:382 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Abnormality of ext... |
OMIM:260300 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Jerky head mo... |
ORPHA:157941 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... |
OMIM:605407 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Otitis media, Recurrent opportunistic infections, Tremor, Pneumonia, Recurrent viral infe... |
OMIM:613179 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ext... |
ORPHA:157946 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Parkinsonism, Rigidity, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity |
OMIM:617393 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... |
OMIM:613860 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Spasticity, Hemophagocytosis |
OMIM:607624 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Recurrent bacte... |
OMIM:607594 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia |
OMIM:619150 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... |
OMIM:605258 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Follicular hyperplasia, Recurrent sin... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti... |
OMIM:616719 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Episodic Ataxia Type 4 |
|
Frequent falls, Incoordination, Ataxia, Abnormal head movements |
ORPHA:79136 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia, Recurrent infections |
ORPHA:210128 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia |
OMIM:245348 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... |
OMIM:613500 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... |
OMIM:615978 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... |
ORPHA:276 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Failure to thrive, Dystonia |
OMIM:619651 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Involuntary movements, Spasticity, Dystonia |
OMIM:617820 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Hypoplasia of the thy... |
OMIM:603554 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity, Small for gestational age |
OMIM:278780 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... |
OMIM:209920 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... |
OMIM:261640 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent sinusitis, Decreased proportion of class-switched memor... |
OMIM:613493 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Writer's cramp, Myoclonus |
OMIM:159900 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Hemiplegia, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atop... |
OMIM:243700 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophil... |
ORPHA:33355 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent bronchitis, Chronic sinusitis, Recur... |
OMIM:612692 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Inability to walk, Dystonia, Chorea |
OMIM:618760 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Epididymitis, Lymphadenopathy, Recurrent upper and lower respirat... |
OMIM:608106 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy |
OMIM:619470 |
Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Decreased body weight, Limb ataxia... |
OMIM:617695 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia |
OMIM:612126 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Lymphadenopathy |
ORPHA:70482 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Felty Syndrome |
|
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphaden... |
ORPHA:47612 |
Huntington Disease |
|
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... |
ORPHA:399 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight los... |
ORPHA:42642 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait |
OMIM:182920 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity |
OMIM:616494 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Perry Syndrome |
|
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations, Rec... |
OMIM:159950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233710 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Clumsiness, Neutropenia |
OMIM:610738 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Recurrent vira... |
ORPHA:169079 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Recurrent aspiration pn... |
ORPHA:2590 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... |
ORPHA:247815 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplasti... |
OMIM:615122 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Tongue fasciculations |
ORPHA:276435 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Sepsis, Absence of lymph node germinal center, Splenomegaly, Cirrhosis, Sclerosing ... |
OMIM:308230 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... |
OMIM:612067 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... |
ORPHA:169090 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... |
ORPHA:183675 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis... |
OMIM:612840 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Pgm3-Cdg |
|
Ataxia, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marr... |
ORPHA:443811 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233690 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity, Recurrent respiratory infections |
ORPHA:33445 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Decreased body weight, Myoclonus, Hyperkinetic movements, St... |
ORPHA:561854 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... |
OMIM:616740 |
Hypocomplementemic Urticarial Vasculitis |
|
Ataxia, Hepatomegaly, Hemiplegia/hemiparesis, Skin rash, Splenomegaly, Cerebral palsy, Recurrent ... |
ORPHA:36412 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Meningitis, Weight loss... |
ORPHA:545 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Gait ataxia, Small for gestational age |
OMIM:609425 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent fungal infections, Chronic oral candidiasis, Enlarged tons... |
OMIM:606367 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity |
ORPHA:500545 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... |
OMIM:618917 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Inability to walk, Opisthotonus, Retr... |
ORPHA:300605 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Abnormality... |
ORPHA:47 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Dystonia |
OMIM:617557 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral p... |
ORPHA:70594 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Classic Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphade... |
ORPHA:391 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Aspiration pneumonia, Frequent falls, Gait disturb... |
ORPHA:216866 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent upper and lower respiratory tract infections, Recurrent fungal i... |
ORPHA:331206 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B ce... |
OMIM:619693 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Galactose Epimerase Deficiency |
|
Weight loss, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, Recurrent bacterial infections, Recurrent upper resp... |
OMIM:616005 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... |
OMIM:193670 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:619279 |
Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Obesity, Speech apraxia, Failure to thrive in infancy |
OMIM:613670 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent bacterial infections, B lymph... |
OMIM:618048 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Tremor, Failure to thrive, Recurrent skin infections |
OMIM:617744 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradykinesia, Polycythemia, Cirr... |
OMIM:613280 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia |
OMIM:239500 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking |
ORPHA:101077 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Immune Deficiency Disease |
|
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Thrombocytopen... |
OMIM:617475 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
Perry Syndrome |
|
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... |
OMIM:168605 |
Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... |
ORPHA:778 |
Oromandibular Dystonia |
|
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkinetic movements, Limb dy... |
ORPHA:93958 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Tremor, Meningitis, Infectious encephalit... |
ORPHA:83317 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Spastic paraparesis, Resting tremor, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... |
ORPHA:93952 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia |
ORPHA:329284 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia |
OMIM:254900 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Ataxia, Hypertonia, Athetosis |
OMIM:617106 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Tremor, Inability to walk, Limb fasciculations |
ORPHA:90117 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia, Lethargy |
OMIM:233910 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Abnormality of the liver |
OMIM:614307 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis |
ORPHA:98848 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Immunodeficiency 23 |
|
Failure to thrive, Ataxia, Cortical myoclonus, Lymphopenia, Eczema, Membranoproliferative glomeru... |
OMIM:615816 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Wilson Disease |
|
Failure to thrive, Clumsiness, Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Arthritis, Thromboc... |
ORPHA:905 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements |
OMIM:300624 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Ataxia, Small for gestational age, Stereotypical hand wringing, Gait disturbanc... |
OMIM:614104 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Failure to thrive, Inability to walk, Progressive spasticity, Gait ataxia, Recu... |
DECIPHER:45 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, Inability to walk, Spasticity |
OMIM:618718 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Hepatomegaly, Ataxia, Hemophagocytosis, Splen... |
OMIM:214500 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Kufor-Rakeb Syndrome |
|
Torticollis, Paraparesis, Ataxia, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:606693 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Hepatosplenomegaly, D... |
OMIM:301081 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis |
ORPHA:391417 |
Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Gait ataxia, Cachexia |
OMIM:612075 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinu... |
OMIM:601495 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity |
OMIM:300983 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Typhoid |
|
Hypertonia, Ataxia, Hepatomegaly, Skin rash, Splenomegaly, Tremor, Infectious encephalitis, Lethargy |
ORPHA:99745 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Keratoconjunctivitis, Perioral eczema, Weight loss, Thrombocytopenia, Lethargy |
ORPHA:79242 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... |
OMIM:147060 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Lymphopenia, Gait disturbance, Tremor, Spasticity, Aplasia/Hypoplasia ... |
ORPHA:100 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Thrombocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomeg... |
OMIM:614700 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Spinocerebellar Ataxia 42 |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia |
OMIM:616795 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Recurrent aspiration pneumonia, Difficulty walking, Paraplegia, Vocal cord pa... |
ORPHA:98897 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent bacterial infections, Autoimmune thrombocytopenia, Glomerulonephritis, Re... |
OMIM:613496 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, Lower limb spast... |
ORPHA:3077 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor |
OMIM:616668 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Hepatomegaly, Recurrent pneumonia, Splenomegaly |
OMIM:615637 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Spasticity, Motor stereotypy, Dystonia, Chorea |
ORPHA:88616 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Chédiak-Higashi Syndrome |
|
Ataxia, Inability to walk, Hemophagocytosis, Tremor, Increased proportion of CD25+ mast cells, Pa... |
ORPHA:167 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Tremor, Ataxia, Gait disturbance |
ORPHA:99014 |
Jeavons Syndrome |
|
Abnormal head movements, Limb myoclonus |
ORPHA:139431 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... |
OMIM:302800 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Rhabdoid Tumor |
|
Hemiplegia, Neoplasm of the liver, Cerebral palsy, Thrombocytopenia, Weight loss, Anemia, Lymphad... |
ORPHA:69077 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Cachexia, Failure to thrive in infancy, Gait disturbance, Choreoathetosis, Spasticity, Dy... |
ORPHA:702 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absenc... |
OMIM:618986 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Hepatomegaly, Lymphopenia, Sk... |
OMIM:102700 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Small for gestational age, Eczema, Cerebral palsy, Spasticity, Repe... |
ORPHA:352490 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... |
OMIM:610984 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Intention tremor, Abnormal pyrami... |
OMIM:312080 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Recurrent streptococcus pneumoniae infe... |
ORPHA:225147 |
Christianson Syndrome |
|
Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia |
ORPHA:85278 |
Bullous Pemphigoid |
|
Eczema, Weight loss, Recurrent infections, Psoriasiform dermatitis |
ORPHA:703 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Poor coordination |
OMIM:619717 |
Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
Sandifer Syndrome |
|
Torticollis, Anemia, Abnormal head movements, Esophagitis |
ORPHA:71272 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Pill-r... |
OMIM:612953 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
Kaposi Sarcoma |
|
Skin rash, Abnormality of the spleen, Generalized lymphadenopathy, Recurrent herpes, Weight loss,... |
ORPHA:33276 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Poor fine motor coordination, Limb ataxia, Otitis media, Lymphadenitis, S... |
ORPHA:51636 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia, Skin rash |
ORPHA:29822 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria |
OMIM:610185 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:306400 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Chorea, Anterior uveitis, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... |
OMIM:612783 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Idiopathic Bronchiectasis |
|
Cachexia, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Recurrent Hae... |
ORPHA:60033 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hepatomegaly, Cirrhosis, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait a... |
ORPHA:363400 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... |
OMIM:616586 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity, Overwe... |
ORPHA:457240 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Axial dystonia, ... |
ORPHA:240071 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Hepatomegaly, Sp... |
ORPHA:77297 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone... |
OMIM:607665 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Pseudomyxoma Peritonei |
|
Weight loss, Lymphadenopathy, Inflammation of the large intestine, Abnormality of the peritoneum |
ORPHA:26790 |
Ddost-Cdg |
|
Failure to thrive, Oromotor apraxia, Tremor, Recurrent ear infections, Hepatic steatosis |
ORPHA:300536 |
Spinocerebellar Ataxia 2 |
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Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... |
OMIM:183090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... |
OMIM:308240 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
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Failure to thrive, Ataxia, Inability to walk, Hypertonia, Tremor |
OMIM:619556 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
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Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... |
ORPHA:420492 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Cachexia, Hypertonia, Recurrent respiratory infections |
ORPHA:1389 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Motor stereotypy, Slender build, Recurrent hand flapping, Skin rash, Cerebral palsy, Myoclonus, C... |
OMIM:617600 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf... |
OMIM:619752 |
Parkinson-Dementia Syndrome |
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Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Thymic Carcinoma |
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Weight loss, Mediastinal lymphadenopathy, Neoplasm of the thymus, Diaphragmatic paralysis |
ORPHA:99868 |
Behavioral Variant Of Frontotemporal Dementia |
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Motor stereotypy, Gait disturbance, Fasciculations, Upper motor neuron dysfunction, Abnormality o... |
ORPHA:275864 |
Riboflavin Transporter Deficiency |
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Cachexia, Tremor, Ataxia, Myoclonus |
ORPHA:97229 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Snijders Blok-Campeau Syndrome |
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Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait |
OMIM:618205 |
Ogden Syndrome |
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Torticollis, Hypertonia, Shuffling gait, Abnormal head movements, Lethargy |
ORPHA:276432 |
Neuronal Intranuclear Inclusion Disease |
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Gait disturbance, Tremor, Ataxia, Rigidity |
OMIM:603472 |
Peroxisome Biogenesis Disorder 5B |
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Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia |
ORPHA:1170 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Leukocytosis, Severe infection, Frequent falls, Tremor, Difficulty walking, Choreoathetosis, Gait... |
ORPHA:206594 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
Congenital Disorder Of Glycosylation, Type Iif |
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Ataxia, Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Hereditary Central Diabetes Insipidus |
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Weight loss, Lethargy |
ORPHA:30925 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
Mulibrey Nanism |
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Cachexia, Hepatomegaly |
ORPHA:2576 |
Leishmaniasis |
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Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight ... |
ORPHA:507 |
Insulin Autoimmune Syndrome |
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Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Multiple System Atrophy |
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Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:102 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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