Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Small ... |
ORPHA:70589 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy |
OMIM:618987 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:607271 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... |
OMIM:614561 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:613493 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... |
OMIM:618944 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level |
OMIM:615592 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:300400 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Decreased circulating antibody level, Spastic ataxia |
ORPHA:2572 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Arrhyt... |
ORPHA:1041 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... |
OMIM:612387 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Albinism |
OMIM:258300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300861 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
ORPHA:859 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... |
ORPHA:50251 |
Immunodeficiency 18 |
|
Defective T cell proliferation |
OMIM:615615 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616187 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive |
OMIM:613501 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:619824 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Ataxia, Loss of ambulation, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure, P... |
OMIM:606777 |
Immunoneurologic Disorder, X-Linked |
|
Spastic paraplegia, Decreased circulating IgG2 level, Neonatal death, Small for gestational age |
OMIM:300076 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Ataxia, Bilateral tonic-clonic seizure |
OMIM:617709 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Hemolytic anemia, Paralysis, Paresthesia |
OMIM:612740 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... |
OMIM:267700 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... |
ORPHA:71277 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hype... |
OMIM:610539 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Spasticity, Abnormal pattern of respirat... |
ORPHA:77260 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentr... |
OMIM:615558 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... |
OMIM:618969 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... |
OMIM:614018 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Ataxia, Hepatomegaly, Hemiplegia/hemiparesis, Splenomegaly, Cerebral palsy, C... |
ORPHA:36412 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Peripheral axonal neuropathy, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebral palsy, Decreased circulating IgG level, Spasticity |
OMIM:618973 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia, Premature graying of hair |
OMIM:190200 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... |
OMIM:618587 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Arrhythmia, Head tremor, Gait disturbance, Writer's cramp... |
OMIM:614860 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Hirsutism, Pulmonary edema, Hepatomegaly, Fair hair, Alopecia, Left ... |
ORPHA:79330 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... |
OMIM:104290 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:619924 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Ataxia, Rod-cone dystrophy, Dysmetria, Abetalipoproteinemia, El... |
ORPHA:96180 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Myocardial infarction, Paralysis, Respiratory... |
ORPHA:132 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure |
OMIM:141500 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... |
ORPHA:53583 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizu... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Ataxia, Tremor, Seizure, Cardiac arrest |
OMIM:618951 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619281 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Progressive gait ataxia |
ORPHA:209004 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... |
OMIM:603553 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... |
OMIM:618924 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Tremor, Ataxia |
OMIM:619099 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Obesity |
OMIM:300310 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Tremor, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... |
ORPHA:100988 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... |
ORPHA:240103 |
Sneddon Syndrome |
|
Hemiplegia, Tremor, Decreased circulating total IgM |
OMIM:182410 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... |
OMIM:208920 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy, Ataxia, Increased level of D-threitol in plasma, Elevated circulating ribitol conc... |
OMIM:608611 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Distal sensory impairment, Frequent falls, Tremor, Gait ataxi... |
OMIM:616719 |
Alg6-Cdg |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoal... |
ORPHA:79320 |
Sandhoff Disease |
|
Failure to thrive, Ataxia, Hepatomegaly, Splenomegaly, Seizure, Congestive heart failure |
ORPHA:796 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity |
OMIM:278780 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... |
OMIM:616139 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... |
OMIM:616230 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... |
OMIM:608105 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... |
ORPHA:247585 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, ... |
OMIM:616981 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... |
OMIM:204300 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Seizure, ... |
OMIM:614947 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
ORPHA:94124 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Budd-Chiari syndrome, Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, E... |
OMIM:226300 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... |
OMIM:616959 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:251190 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Failure to thrive in infancy, Bilateral tonic... |
OMIM:619065 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... |
ORPHA:382 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Difficulty walking, Hearing impai... |
OMIM:617087 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... |
ORPHA:86839 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Cardiomyopathy, Dystonia |
OMIM:619647 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly, Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:139406 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy, Abnormal oral glucose tolerance |
OMIM:311100 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma |
ORPHA:2732 |
Ovarian Hyperstimulation Syndrome |
|
Hirsutism, Pulmonary edema, Enlarged polycystic ovaries, Hypovolemia, Peripheral edema, Pleural e... |
ORPHA:64739 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy, Dysdiadochokinesis, Spastic ataxia |
OMIM:108650 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Rabies |
|
Cerebral palsy, Sudden cardiac death, Vocal cord paresis, Seizure, Paresthesia |
ORPHA:770 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... |
ORPHA:36387 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... |
OMIM:618093 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:619774 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Tricuspid re... |
ORPHA:2414 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Facial edema, Lymphopenia, Leukocytosis, Resting tremor, Nonproductive coug... |
ORPHA:319213 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... |
ORPHA:98810 |
Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Leukopenia, Thrombocytopenia, Lethargy |
ORPHA:99828 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Cardiomyopathy, Dystonia |
OMIM:619651 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619510 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Seizure, Reticulocytosis, Dystonia |
OMIM:612126 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... |
ORPHA:2590 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:618805 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy, Hyperglycinemia, Spastic ataxia, Gait disturbance |
OMIM:616859 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Ataxia, Decreased circulating IgG level, Decr... |
OMIM:275350 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Difficulty walking, Dilated cardiomyopathy, D... |
ORPHA:324588 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:165199 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... |
ORPHA:90362 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... |
ORPHA:725 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Bilateral tonic-clon... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... |
OMIM:619317 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Progressive hearing impairment, Impa... |
OMIM:614296 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Atonic seizure, Extrapyramidal muscular rigidity, Dysmetria, Le... |
ORPHA:93952 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... |
OMIM:613855 |
Senior-Loken Syndrome 4 |
|
Anemia, Rod-cone dystrophy, Polydipsia |
OMIM:606996 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Emphysema |
ORPHA:60 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Reduced delayed hypersensitivity, Increased circulating IgM level, Red... |
OMIM:617241 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
ORPHA:139426 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... |
OMIM:618394 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure |
OMIM:619191 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... |
OMIM:209950 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Clonic seizure, Tonic seizure, Stereotypical hand wringing, ... |
OMIM:618917 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence... |
ORPHA:79137 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, C... |
ORPHA:79312 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... |
OMIM:619911 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... |
OMIM:619028 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... |
OMIM:617665 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619964 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytop... |
ORPHA:507 |
Riddle Syndrome |
|
Ataxia, Decreased circulating IgG level |
OMIM:611943 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Paralysis, Distal sensory impairment |
OMIM:613710 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Optic disc pallor, Elevated circulating creatine kinase con... |
OMIM:268040 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... |
OMIM:616409 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... |
OMIM:612561 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
OMIM:612016 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocard... |
ORPHA:2315 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular ar... |
OMIM:610476 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:613721 |
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 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait ataxia, Bilateral t... |
OMIM:617810 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Abetalipoproteinemia |
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Ataxia, Hepatomegaly, Steatorrhea, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fundus,... |
ORPHA:14 |
Cerebral Cavernous Malformations 3 |
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Paralysis, Cerebral hemorrhage, Seizure |
OMIM:603285 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating antibody level |
OMIM:614069 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
X-Linked Non Progressive Cerebellar Ataxia |
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Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... |
ORPHA:64753 |
Macrophage Activation Syndrome |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abn... |
OMIM:242700 |
Lymphoproliferative Syndrome 3 |
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Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Aspiration pneumonia, Limb fasciculations, Distal sensory impairment, Cough, Respiratory failure ... |
ORPHA:90117 |
Yoon-Bellen Neurodevelopmental Syndrome |
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Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Infantile spasms, Generalized m... |
OMIM:619701 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Ataxia, EEG abnormality, Retinal dystrophy |
OMIM:614706 |
Dystonia 27 |
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Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Spinal muscular atrophy, type I, with congenital bone fractures |
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Respiratory distress, Generalized edema, Hypertrichosis |
OMIM:271225 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Hypoketotic hy... |
ORPHA:26793 |
Dystonia 28, Childhood-Onset |
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Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Spasticity |
OMIM:607624 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Optic atrophy, Inability to walk |
OMIM:618572 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Hypertonia, Failure to thrive, Cardiomyopathy, Hepatic steatosis, Dystonia |
ORPHA:26792 |
Spastic Paraplegia 57, Autosomal Recessive |
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Optic atrophy, Loss of ambulation |
OMIM:615658 |
Hypophosphatasia |
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Anemia, Respiratory insufficiency, Failure to thrive in infancy, Emphysema |
ORPHA:436 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Optic Atrophy 3, Autosomal Dominant |
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Optic atrophy, Optic disc pallor, Hearing impairment, Tremor |
OMIM:165300 |
Peroxisome Biogenesis Disorder 3B |
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Sensorineural hearing impairment, Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Retinal dystroph... |
OMIM:266510 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk |
OMIM:619639 |
Reticular Dysgenesis |
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Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Eisenmenger Syndrome |
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Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Heart murmur, P... |
ORPHA:97214 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
X-Linked Immunoneurologic Disorder |
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Hypertonia, Decreased circulating IgG2 level, Hemiplegia/hemiparesis |
ORPHA:2571 |
Hyperphenylalaninemia, Bh4-Deficient, C |
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Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261630 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
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Cirrhosis, Portal hypertension, Emphysema |
OMIM:210050 |
Mucopolysaccharidosis-Plus Syndrome |
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Inability to walk, Hepatomegaly, Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy,... |
OMIM:617303 |
Hyperimmunoglobulin G1(A1) Syndrome |
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Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Nephrotic Syndrome, Type 14 |
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Sensorineural hearing impairment, Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoal... |
OMIM:617575 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Spinocerebellar Ataxia 18 |
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Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Spinocerebellar Ataxia 19 |
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Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Congenital Tracheomalacia |
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Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Cardiomegaly, Tracheomala... |
ORPHA:95430 |
Alpha-Methylacyl-Coa Racemase Deficiency |
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Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Seizure, Focal-ons... |
OMIM:614307 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... |
ORPHA:331206 |
Leber Congenital Amaurosis 13 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Hemoglobin E Disease |
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Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Spastic Ataxia 4, Autosomal Recessive |
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Optic atrophy, Spastic ataxia |
OMIM:613672 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Respiratory distress, Decreased body weight, Polyhydramnios, Dilated cardiomyopathy, Respiratory ... |
OMIM:300580 |
Spinocerebellar Ataxia, X-Linked 1 |
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Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Analbuminemia |
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Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Respiratory tract infec... |
ORPHA:567546 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Eosinophilic Gastroenteritis |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... |
ORPHA:2070 |
Leukodystrophy, Hypomyelinating, 11 |
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Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity |
OMIM:616494 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walkin... |
ORPHA:477673 |
Nipah Virus Disease |
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Respiratory distress, Myoclonus, Hypotension, Cough, Tremor, Recurrent pharyngitis |
ORPHA:99825 |
Nephrotic Syndrome, Type 1 |
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Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Alpers-Huttenlocher Syndrome |
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Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Bil... |
ORPHA:726 |
Tremor, Hereditary Essential, 1 |
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Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
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Hypertonia, Bilateral tonic-clonic seizure |
OMIM:269720 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Optic Atrophy 5 |
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Optic atrophy |
OMIM:610708 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... |
ORPHA:240085 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... |
OMIM:615513 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Interstitial Pneumonitis, Desquamative, Familial |
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Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Behr Syndrome |
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Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
Oxoglutarate Dehydrogenase Deficiency |
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Dysmetria, Rigidity, Falls, Gait ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia |
OMIM:203740 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Ventricular septal def... |
ORPHA:261250 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619752 |
RosaĂŻ-Dorfman Disease |
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Paraplegia, Dysgammaglobulinemia |
ORPHA:158014 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Sensorineural hearing impairment, Ataxia, Sideroblastic anemia, Atrial septal defect, Retinal deg... |
OMIM:249270 |
Spastic Paraparesis And Deafness |
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Tremor, Spastic paraparesis |
OMIM:312910 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
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Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... |
ORPHA:100057 |
Developmental And Epileptic Encephalopathy 104 |
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Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Neuroectodermal Melanolysosomal Disease |
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Hypertonia, Ataxia, Hypopigmentation of hair, Rigidity, Tremor, Spasticity, Seizure, Premature gr... |
ORPHA:33445 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
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Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Bare Lymphocyte Syndrome, Type I |
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Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis |
OMIM:604571 |
Netherton Syndrome |
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Sparse scalp hair, Asthma, Sparse eyebrow, Sparse eyelashes, Dehydration, Trichorrhexis nodosa, F... |
ORPHA:634 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hereditary Neuropathy With Liability To Pressure Palsies |
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Paresthesia, Vocal cord paralysis |
ORPHA:640 |
Immunodeficiency 46 |
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Failure to thrive, Decreased circulating antibody level |
OMIM:616740 |
Whim Syndrome 1 |
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Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
Common Variable Immunodeficiency |
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Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Fai... |
ORPHA:1572 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Hemiplegia, Decreased circulating total IgM, Increased circulating IgE level, Increased circulati... |
OMIM:243700 |
Parkinson Disease 19A, Juvenile-Onset |
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Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Involuntary movements, Tongue fasciculations |
ORPHA:238329 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:616100 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Polyp... |
OMIM:615986 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
OMIM:618534 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
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Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Choreoathetosis, Invo... |
OMIM:606703 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Increased body weight, Hypotension, Hemolytic anemia, Decre... |
ORPHA:244242 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia |
OMIM:601457 |
Castleman Disease |
|
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... |
ORPHA:160 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... |
ORPHA:264675 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetos... |
ORPHA:27 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular hypertrophy, Pericardit... |
OMIM:619487 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Hepatomegaly, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemi... |
OMIM:608104 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Decreased DLCO, Emphysema, Hypertension, Pulmonary fibrosis |
OMIM:618913 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase c... |
OMIM:615895 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Diaphragmatic paralysis, Rest... |
OMIM:614399 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Blepharospasm, Laryngeal dystonia, Eunuchoid habitus, Dysdiado... |
ORPHA:98805 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Optic atrophy, Gait ataxia |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Motor stereotypy |
OMIM:616341 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Optic neuritis, Bradykinesia, Action tremor, Facial palsy, Elevated circulating creatine ... |
ORPHA:254886 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Megaloblastic anemia, Atrial septal defect, Retinal dystrophy, ... |
ORPHA:49827 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia |
OMIM:221400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopen... |
ORPHA:289916 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Chylomicron Retention Disease |
|
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... |
OMIM:520000 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Familial Hemophagocytic Lymphohistiocytosis |
|