Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
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 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
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 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy |
OMIM:618987 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:300310 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
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 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin... |
OMIM:300400 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia, Decreased circulating antibody level |
ORPHA:2572 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... |
OMIM:613490 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Ataxia, Decreased circulating I... |
OMIM:300861 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea, Bronchiectasis, A... |
OMIM:612387 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... |
OMIM:606777 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Ataxia, Slender build, Bilateral tonic-clonic seizure |
OMIM:617709 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Leukocytosis, Abnormal capillary physiology, Absent ankle pulse... |
ORPHA:90064 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Immunodeficiency 18 |
|
Defective T cell proliferation |
OMIM:615615 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Decreased circulating IgG2 level, Small for gestational age, Spastic paraplegia |
OMIM:300076 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, H... |
ORPHA:71277 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy |
OMIM:609055 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE... |
OMIM:619824 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Dystonia, Cardiac arrest, S... |
ORPHA:77260 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... |
OMIM:610539 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebral palsy, Decreased circulating IgG level, Spasticity |
OMIM:618973 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair, Ataxia, Intention tremor |
OMIM:190200 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Cerebral palsy, Ataxia, Pericardial effusion, Hemiplegia/hemiparesis, Splenomegaly,... |
ORPHA:36412 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... |
OMIM:614860 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Dravet Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Myocardial infarction, Paralysis, Congestive ... |
ORPHA:132 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Alopecia, Hypoventilation, Apnea, Generalized edema, Edema, C... |
ORPHA:79330 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Failure to thrive, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:615592 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased c... |
OMIM:603553 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia... |
OMIM:615924 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... |
ORPHA:96180 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Cardiac arrest, Tremor, Seizure, Failure to thrive |
OMIM:618951 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Progressive gait ataxia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... |
ORPHA:98813 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Respiratory distress |
OMIM:619099 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga... |
OMIM:618090 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Rabies |
|
Cerebral palsy, Sudden cardiac death, Seizure, Paresthesia, Vocal cord paresis |
ORPHA:770 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... |
ORPHA:240103 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Hemiplegia |
OMIM:182410 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Seizure, Failure to thrive |
ORPHA:796 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Respiratory distress, Crackles, Facial edema, Atelectasis, Leukocytosis, F... |
ORPHA:319213 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... |
OMIM:608611 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dy... |
OMIM:618093 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Low-set ears, Rod-cone dystroph... |
ORPHA:79320 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity |
OMIM:278780 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... |
OMIM:616230 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy, Hearing impairment |
OMIM:617717 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz... |
ORPHA:382 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, EEG abnormality, Chorioretinal coloboma, Hearing impairment |
ORPHA:2732 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... |
OMIM:607682 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... |
OMIM:617836 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... |
OMIM:619065 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Epileptic spasm, Seizure |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... |
ORPHA:98810 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... |
ORPHA:45452 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Thrombocytosis, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari synd... |
OMIM:226300 |
Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance, Optic atrophy |
OMIM:311100 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Focal... |
OMIM:617904 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia... |
OMIM:209950 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Sensorineural hearing impairmen... |
OMIM:614296 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Hepatic bridging fibrosis, Splenomegaly, Limb atax... |
OMIM:616719 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko... |
ORPHA:507 |
Dengue Fever |
|
Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... |
OMIM:617665 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgE, Decreas... |
OMIM:619510 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence sei... |
OMIM:617113 |
Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... |
ORPHA:64739 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... |
ORPHA:330050 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:165199 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Rod-cone dystrophy, Anemia |
OMIM:606996 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:618805 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Edema, Action tremor, Gait ataxia, Normochromic anemia, Anasarca, Myoclonus, Ple... |
OMIM:254900 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level |
OMIM:613501 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight lo... |
ORPHA:90362 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Dehydration, Choreoathetosis, Anemia,... |
ORPHA:79312 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Emphysema, Hepatitis, Jaundice |
ORPHA:60 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Lower limb spasticity |
OMIM:619639 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Synophrys, Unsteady gait, Seizure, Spa... |
OMIM:620317 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia |
OMIM:608636 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... |
OMIM:616409 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Riddle Syndrome |
|
Decreased circulating IgG level, Ataxia |
OMIM:611943 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Dextrocardia, Sensorineural hearing impairment, Abnormal cardiac septum morpho... |
ORPHA:2315 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... |
OMIM:242700 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... |
OMIM:301020 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Difficulty walking, Distal sensory impairment |
OMIM:613710 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Sensorineural hearing impairment, Elevated circulating p... |
OMIM:266510 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia, EEG with generalized polyspikes |
OMIM:614706 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... |
ORPHA:14 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
X-Linked Immunoneurologic Disorder |
|
Hypertonia, Hemiplegia/hemiparesis, Decreased circulating IgG2 level |
ORPHA:2571 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro... |
OMIM:613839 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Hearing impairment |
OMIM:165300 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Spasticity |
OMIM:607624 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema, Hypertrichosis |
OMIM:271225 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... |
OMIM:617082 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... |
OMIM:615528 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... |
ORPHA:284324 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Anemia |
ORPHA:436 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... |
OMIM:619028 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, ... |
ORPHA:49827 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... |
ORPHA:216873 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc... |
OMIM:617052 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, ... |
OMIM:256731 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Cirrhosis, Portal hypertension |
OMIM:210050 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced... |
ORPHA:331206 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... |
ORPHA:71517 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia, Aggressive behavior, Hypsarrhythmia |
OMIM:608093 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated c... |
OMIM:300580 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Ataxia, Decreased circulating total IgM, Failure to thrive, Decr... |
OMIM:275350 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Abnormality of the liver, Status epile... |
OMIM:614307 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable respo... |
ORPHA:240085 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficienc... |
ORPHA:97214 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... |
ORPHA:2382 |
Immunodeficiency 46 |
|
Failure to thrive, Decreased circulating antibody level |
OMIM:616740 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Inability to walk, Optic atrophy, Enlarged kidney, ... |
OMIM:617303 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Dyspnea, Facial edema, P... |
ORPHA:567546 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hyp... |
ORPHA:2070 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Nipah Virus Disease |
|
Respiratory distress, Tremor, Recurrent pharyngitis, Myoclonus, Hypotension, Cough |
ORPHA:99825 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus |
OMIM:617171 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, EEG with generalized epileptiform discharges, Gait ataxia, Inappropriate laughter,... |
OMIM:619323 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Paraplegia |
ORPHA:158014 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dystonia, ... |
OMIM:610978 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail... |
OMIM:615758 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Pericarditis, Pericardial effusion, Optic atrophy, Chorioretinal ... |
OMIM:619487 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Hyperglycemia, Polydipsia, Rod-cone dystrophy, Polyphagi... |
OMIM:615986 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Seizure, Hypertoni... |
ORPHA:33445 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive |
OMIM:609056 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defe... |
OMIM:249270 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy |
ORPHA:71 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Seizure, Frontal upsweep of hair, Spasticity |
OMIM:300983 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements... |
ORPHA:98805 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... |
ORPHA:634 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Hemiplegia, Increased circulating IgG level, Increased circulating IgE level, Decreased circulati... |
OMIM:243700 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... |
OMIM:615895 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Increa... |
ORPHA:261250 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Leth... |
ORPHA:289916 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore... |
ORPHA:27 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Cerebra... |
ORPHA:244242 |
Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci... |
OMIM:618534 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II ... |
OMIM:520000 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... |
OMIM:619389 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Ly... |
OMIM:617575 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degenerati... |
OMIM:204200 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
ORPHA:158048 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... |
ORPHA:254886 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Difficulty walking, Distal sensory impairment |
OMIM:605285 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Spast... |
OMIM:619301 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... |
OMIM:608104 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... |
ORPHA:99947 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia |
OMIM:221400 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... |
OMIM:620282 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Syncope, Gait disturbance |
OMIM:603472 |
East Syndrome |
|
Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impa... |
ORPHA:199343 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Polymicrogyria |
ORPHA:171703 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, EEG abnormality, Retinal deg... |
OMIM:256730 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Ataxia, Tremor, Pericardial effusion, Macrotia, Dysmetria, Cardiomyop... |
OMIM:212065 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia |
OMIM:617862 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Lymphadenopathy, N... |
ORPHA:142 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Lambert Syndrome |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:1296 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, S... |
ORPHA:540 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Seizure, Brad... |
OMIM:261640 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o... |
OMIM:618917 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, EEG abnormality, Retinopathy |
OMIM:610951 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis |
OMIM:300857 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... |
ORPHA:521406 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Difficulty walking |
ORPHA:320360 |
Immunodeficiency 52 |
|
Failure to thrive, Decreased circulating antibody level |
OMIM:617514 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Highl... |
OMIM:617976 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Nail dystro... |
OMIM:620365 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... |
OMIM:308230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, Hem... |
ORPHA:140989 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... |
OMIM:614487 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Hepatomegaly,... |
ORPHA:811 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Bicuspid aortic valve, Increased circulating fa... |
OMIM:618156 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Decreased circulating antibody level |
ORPHA:85317 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia |
ORPHA:139485 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, EEG abnormality, Hypoch... |
OMIM:610883 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... |
ORPHA:178320 |
Infantile Cerebellar-Retinal Degeneration |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... |
OMIM:614559 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm... |
OMIM:619302 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Generalized edema, Long eyelashes, Hypoventilation |
OMIM:606056 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Atrial septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, H... |
ORPHA:1667 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho... |
OMIM:616267 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized myo... |
OMIM:231000 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... |
ORPHA:79263 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... |
ORPHA:363400 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia |
ORPHA:1171 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... |
OMIM:610185 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Failure to thrive, Increased circulating IgE level, Lack of T ce... |
ORPHA:277 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumoth... |
ORPHA:36238 |
Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Generalized tonic seizure |
OMIM:611603 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... |
OMIM:614831 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait ... |
ORPHA:542310 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... |
ORPHA:86909 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Rigidity, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Oligohydramnios |
OMIM:249210 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Decreased circulating antibody level |
ORPHA:33355 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... |
OMIM:617493 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic ... |
ORPHA:401768 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619157 |
Usher Syndrome, Type Iiib |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, ... |
OMIM:614504 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... |
OMIM:181000 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ... |
ORPHA:292 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait |
OMIM:619052 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Obesity |
OMIM:615993 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Pneumonia, Edema, Respiratory tract infection, Myocarditis... |
ORPHA:544482 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a... |
OMIM:615859 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Optic atrophy, Dysphagia, Dystonia |
OMIM:271930 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Hypertension, Pulmonary hypoplasia, Left ventric... |
OMIM:616733 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Hypoventilation, Failure to thrive, Ataxia, Paralysis, Microvesicular hepatic steat... |
OMIM:203700 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Edema, Angioedema, Intracranial hemorrh... |
ORPHA:449285 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Recurrent acute respirato... |
OMIM:620011 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level |
OMIM:617006 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Failure to thrive, Progressive spasticity, Decreased circulating IgA level |
DECIPHER:45 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Vocal cord paralysis, Hand paresthesia |
OMIM:162500 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Thick hair, Subretinal pigment epithelium hemorrhage, Spasticity, Coarse hair,... |
ORPHA:357074 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Atypical Rett Syndrome |
|
Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s... |
ORPHA:3095 |
Cln5 Disease |
|
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Inability to walk, Fo... |
ORPHA:228360 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t... |
ORPHA:91130 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Failure to thrive, Ataxia, Telangiectasia of the skin, Tremor, Prematur... |
ORPHA:100 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Low-set ears, Hypoproteinemia |
OMIM:235255 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Ataxia, Head titubation, Interstitial emphysema, Bronchiectasis, Dysmetria, Pulmonar... |
OMIM:619708 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Kohlschutter-Tonz Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity |
OMIM:226750 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, H... |
OMIM:618329 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter |
OMIM:618347 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... |
ORPHA:35078 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Abnormal pinna morphology, Sensorineural hearing impairment, Mu... |
ORPHA:79324 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Impaired vibratory sensation, Babinski sign, Progressive cerebellar ataxia,... |
ORPHA:2596 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... |
ORPHA:411590 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Congestive heart f... |
ORPHA:3077 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Dystonia, Failure t... |
OMIM:615512 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased circulating antibody level |
OMIM:619846 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... |
OMIM:620040 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurrent cerebral hemorrhage, Hyp... |
ORPHA:36382 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio... |
OMIM:115197 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... |
ORPHA:101071 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thrombocytopenia, Inability to walk, Optic atrophy, Enlarged... |
ORPHA:505248 |
Nephrotic Syndrome, Type 8 |
|
Edema, Generalized edema |
OMIM:615244 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... |
ORPHA:98820 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance |
ORPHA:3151 |
Fetal Akinesia Deformation Sequence 3 |
|
Generalized edema |
OMIM:618389 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Abnormal pyramidal sign, Atheto... |
ORPHA:834 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Spasticity, Spastic paraplegia, Spastic tetraplegia |
OMIM:617977 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Increased circulating antibody level, Fasciculations |
ORPHA:99965 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Seizure, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Apparent Mineralocorticoid Excess |
|
Hypertensive retinopathy, Hypokalemia, Abnormality of circulating cortisol level, Left ventricula... |
ORPHA:320 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Macrotia, Gait apraxia, Optic atroph... |
OMIM:617302 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Low a... |
OMIM:619616 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... |
OMIM:301310 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Cystinosis |
|
Hypokalemia, Gait disturbance, Type I diabetes mellitus, Hypophosphatemia, Retinopathy, Polydipsi... |
ORPHA:213 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obes... |
ORPHA:464282 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic... |
ORPHA:93958 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Failure to thrive, Small for gestational age, Slender build, Portal hypertension, T... |
OMIM:613658 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Failure to thrive, Decreased ci... |
OMIM:618108 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Ataxia, Failure to thrive, Panhypogammaglobulinemia, Progressive spasticity |
ORPHA:251009 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Perry Syndrome |
|
Central hypoventilation, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor f... |
ORPHA:178509 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... |
OMIM:598500 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... |
OMIM:617519 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-set ... |
ORPHA:1655 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthr... |
ORPHA:313772 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor s... |
OMIM:618235 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Telangiectasia, Failure to thrive |
OMIM:608799 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Seizure, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Chorea, Hypertonia, Dystonia |
ORPHA:79097 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... |
ORPHA:352582 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... |
OMIM:272750 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... |
ORPHA:208447 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At... |
OMIM:615673 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear... |
OMIM:222300 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Dextrocardia, ... |
OMIM:615994 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... |
ORPHA:561854 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Central Diabetes Insipidus |
|
Hyponatremia, Lethargy, Polydipsia, Anorexia |
ORPHA:178029 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Optic atrophy, Dysphagia, Pigmentary retinopathy, Bilateral sensorineural hearing i... |
OMIM:264470 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady gait, Babinski sign, F... |
ORPHA:98761 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... |
ORPHA:363654 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff... |
OMIM:614299 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Dysphagia, Choreoathetos... |
ORPHA:391428 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Elevate... |
ORPHA:423479 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Low anterior hairline, Dysmetria, Gait ataxia... |
OMIM:615031 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Tremor, Seizure, Gait disturbance, Arrhythmia |
ORPHA:29822 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ... |
OMIM:617435 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... |
ORPHA:70588 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... |
OMIM:311070 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Dystonia, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Recurre... |
OMIM:616271 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... |
ORPHA:70594 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small for gestational age, Decreased circulating total IgM, Fail... |
OMIM:607143 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Sensorineural hearing impairment, Optic atrophy |
OMIM:618768 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia, Retinal dystrophy, Anemia |
OMIM:266900 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Tongue fasciculations, Generali... |
OMIM:159950 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hyperki... |
OMIM:271980 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive |
OMIM:619693 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... |
OMIM:616795 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... |
ORPHA:420492 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia, Hearing impairment |
OMIM:236792 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Dysphagia |
OMIM:617086 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:102 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Dy... |
ORPHA:133 |
Combined Saposin Deficiency |
|
Splenomegaly, Optic atrophy, Hepatomegaly |
OMIM:611721 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Ataxia, Anorexia, Splenomegaly, Myocarditis, Insulin re... |
ORPHA:3452 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Tremor, Dyspnea, Hypertension, Interstitial pneumonitis, Respi... |
ORPHA:330021 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia |
OMIM:618637 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle... |
OMIM:613561 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619802 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Va... |
ORPHA:228346 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, Pe... |
ORPHA:31204 |
Tetanus |
|
Respiratory distress, Tachycardia, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertension, Hyper... |
ORPHA:3299 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
Tangier Disease |
|
Peripheral axonal neuropathy, Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, ... |
ORPHA:31150 |
Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Failure to thrive, Decreased circulating antibody level |
ORPHA:397596 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Failure to thrive, Polymicrogyria, Respiratory distress |
OMIM:616974 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Decreased circulating IgA level |
OMIM:215250 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Glutathionuria |
|
Tremor, Asthma, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Increased circulating antibody level |
OMIM:615285 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level |
ORPHA:169079 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor |
OMIM:620221 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... |
OMIM:618170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating... |
OMIM:615838 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Nephronophthisis 11 |
|
Anemia, Polydipsia, Retinal degeneration |
OMIM:613550 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Diaphragmat... |
ORPHA:99868 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decre... |
OMIM:619632 |
Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Abnor... |
ORPHA:3463 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level |
OMIM:613101 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia |
ORPHA:100025 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hearin... |
ORPHA:858 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Optic atrophy, Coloboma |
OMIM:274270 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... |
ORPHA:206443 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Abnormal intrahepatic bile duct morph... |
ORPHA:363618 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Dysmetr... |
OMIM:617710 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Dysphagia, Bradykinesia, Athetosis, Leber optic atrophy, Dystonia |
OMIM:500001 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... |
ORPHA:563 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Developmental And Epileptic Encephalopathy 47 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... |
OMIM:617166 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Seiz... |
ORPHA:442835 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Seizure, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Ataxia, Tremor, Intracranial hemorrhage, Hypertonia, Anasarc... |
ORPHA:86309 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibod... |
ORPHA:221139 |
Prune1-Related Neurological Syndrome |
|
Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, EEG abnorma... |
ORPHA:544469 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H... |
OMIM:251880 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Merrf |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:551 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve... |
ORPHA:1187 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocy... |
ORPHA:3392 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Inability ... |
OMIM:618012 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Failure to thrive |
OMIM:619556 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating cholestero... |
OMIM:270800 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Failure to thrive, Abnormal circulating IgM level, Increased cir... |
OMIM:618048 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal hyperten... |
ORPHA:367 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific antibody res... |
OMIM:614700 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Incoordina... |
ORPHA:209905 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari... |
OMIM:619422 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Hypomagnesemia, Sensorineural hearing impairment, Hypokalemia, Hyperaldoste... |
OMIM:612780 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Congestive he... |
OMIM:212140 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... |
OMIM:619574 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce... |
OMIM:614877 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Ataxia, Tremor, Optic atrophy, Pigmentary reti... |
ORPHA:90321 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
Lethal Congenital Contracture Syndrome 7 |
|
Polyhydramnios, Paralysis |
OMIM:616286 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Tremor |
OMIM:616269 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:601338 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Sensory ataxia, Distal sensory impairment, Gait ataxia, Steppage gait, Difficul... |
OMIM:614895 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Raynau... |
ORPHA:227510 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:98933 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Abnormal pleura morphology, Nodular regenerative hyperplasia of liver, Dyspn... |
ORPHA:210136 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Failure to thrive, Breast hypoplasia |
OMIM:613804 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Athetosis, Progressive cerebellar ataxia, Sparse hair, Emphys... |
ORPHA:2962 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Dystonia, Hyperalaninemia |
OMIM:245349 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Oligohydramnios, Supravalvular aortic stenosis |
OMIM:219100 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Optic atrophy, Adult onset sensorineural hearing impairment, Dysphagia, Sensory axonal ne... |
ORPHA:329314 |
Mpi-Cdg |
|
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ... |
OMIM:102700 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Leukopeni... |
ORPHA:797 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Loss of ambulation,... |
OMIM:607694 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure |
ORPHA:3124 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Left ventricular hypertrophy, Prelingual sensorineural hearing impairment |
OMIM:618632 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron h... |
ORPHA:848 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Constrictive pericarditis, Anemia |
ORPHA:67 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... |
ORPHA:169160 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Tremor, Chorea, Abnormal pyramidal sign, Dehydration, Choreoathetosi... |
ORPHA:2131 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hepatomegaly, Abnormal EKG, Intercosta... |
ORPHA:1329 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... |
OMIM:302800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Athetosis, Hypokalemia, Hyperaldosteronism, D... |
ORPHA:369929 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis |
ORPHA:329284 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Ataxia, Spastic paraplegia, Dilated cardiomyopathy, Tetrapleg... |
ORPHA:254913 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Ataxia, Tachypnea, Weight loss, Thrombocytopenia |
ORPHA:79242 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Intracranial hemorrhage... |
OMIM:614483 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... |
OMIM:607483 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tachycardia, Generalized-onset seizure, Tremor, Hypoesthesia, Obesi... |
OMIM:619737 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Riddle Syndrome |
|
Ataxia, Weight loss, Clumsiness, Decreased circulating total IgM, Poor hand-eye coordination, Dec... |
ORPHA:420741 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal pleura morphology, Edema, Tremor, Splenomegaly, Lymphadenopathy,... |
ORPHA:3162 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... |
ORPHA:457205 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, ... |
OMIM:618241 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Muscular ventricular septal defect, Dilated cardiomyopath... |
ORPHA:66634 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction, Bilateral sensorineural hearing impairment, Progres... |
OMIM:124950 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment |
ORPHA:1186 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Vocal cord paralysis |
OMIM:607641 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Dystonia, Hypera... |
OMIM:614702 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Weight loss, Periodic paralysis |
OMIM:613239 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... |
OMIM:123700 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of e... |
ORPHA:289494 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... |
ORPHA:1942 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Hearing impairment, Attenuation of retinal blood vessels |
OMIM:610965 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Dyspha... |
ORPHA:89842 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations, Oligohydr... |
ORPHA:1143 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... |
OMIM:619881 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Torticollis |
OMIM:614816 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:300972 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency |
OMIM:260450 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Seizure, Hypertension, Myoclonus |
ORPHA:97229 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Oligohyd... |
ORPHA:261304 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... |
OMIM:613177 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p... |
ORPHA:199354 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperprot... |
ORPHA:509 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios, Hypertonia, Lissencephaly, Generalized hyp... |
ORPHA:50810 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Edema, Cardiomegaly, Large for gestational age, Polyhydramnios, Low anterio... |
ORPHA:363705 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... |
OMIM:300755 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Sensorineural hearing... |
OMIM:258450 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Bradykinesia, Abno... |
ORPHA:399 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... |
ORPHA:544254 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a... |
OMIM:610293 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Ataxia, Paraplegia, Cerebral ischemia, Failure to thrive |
ORPHA:927 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Myocardial infarction, Tremor, Overweight, Seizure, Hyperkinetic ... |
ORPHA:457240 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... |
ORPHA:225147 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... |
ORPHA:254864 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
Porphyria, Acute Intermittent |
|
Tachycardia, Paralysis, Seizure, Hypertension, Respiratory paralysis, Paresthesia, Hepatocellular... |
OMIM:176000 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia,... |
OMIM:614739 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Intention tremor |
ORPHA:466794 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, Dysphagia, Neutropenia, Loss of ambulation, Craniofa... |
OMIM:618253 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr... |
ORPHA:251274 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia |
ORPHA:37612 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... |
OMIM:600802 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor... |
OMIM:312170 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Bilateral tonic-clonic seizure, Sparse e... |
OMIM:617988 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... |
ORPHA:230800 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Hearing impairment |
OMIM:617954 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level |
OMIM:616576 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Nodular... |
ORPHA:333 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Tricusp... |
OMIM:619534 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level |
OMIM:300635 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiom... |
ORPHA:1177 |
Perry Syndrome |
|
Hypoventilation, Parkinsonism, Central hypoventilation, Tremor, Rigidity, Respiratory insufficien... |
OMIM:168605 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Systolic heart murmur, Generalized edema |
OMIM:617478 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Weight loss, Palpitations, Periodic paralysis |
OMIM:188580 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Ort... |
ORPHA:75249 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Optic atrophy |
OMIM:620312 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Dystonia, Hepatomegaly, Anisocytosis,... |
OMIM:618278 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Hemipar... |
OMIM:540000 |
Ring Chromosome 21 Syndrome |
|
Spasticity, Decreased circulating antibody level |
ORPHA:1445 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Ataxia, Tremor, Slurred speech, Choreoathetos... |
OMIM:208900 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Impaired T cell function, Tremor, Spastic diplegia, Tetraparesis, Decreased lymphocyte pr... |
OMIM:613179 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Dysmetria, Dysphagia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:98755 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... |
ORPHA:99931 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hype... |
OMIM:619272 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated cir... |
ORPHA:772 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... |
OMIM:613280 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil anti... |
ORPHA:525731 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... |
ORPHA:464453 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia |
ORPHA:673 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia |
OMIM:209920 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Dyspnea, Anemia, Pre... |
OMIM:614742 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy, He... |
ORPHA:324737 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Atelectasis... |
OMIM:620233 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertension, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Anemia |
ORPHA:1192 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... |
ORPHA:90349 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... |
OMIM:311510 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Optic atrophy, Hypoalbuminemia, Low-set ears, Dystonia, Macrotia |
OMIM:251300 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Tinnitus |
ORPHA:403 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased circulating antibody level, Gait ataxia, Abnormality of humora... |
ORPHA:572 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure,... |
ORPHA:480864 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... |
OMIM:300957 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... |
OMIM:616505 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Sensorineural hearin... |
ORPHA:95513 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Truncal ataxia, Pigmentary retinopathy, Left ventr... |
OMIM:252011 |
Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Small for gestational age, Decr... |
OMIM:210900 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Mcleod Syndrome |
|
Hepatomegaly, Generalized-onset seizure, Atrial fibrillation, Acanthocytosis, Splenomegaly, Chore... |
OMIM:300842 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Tremor, Increased body weight, Seizure, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis |
OMIM:300894 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria, Hearing i... |
OMIM:605259 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Small for gestational age, Emphysema, Simplified gyral pattern,... |
OMIM:616835 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Anasarca |
OMIM:123550 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Failure to thrive |
OMIM:618495 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven... |
OMIM:160900 |
Rasmussen Subacute Encephalitis |
|
Hemiparesis, Decreased circulating total IgA, Involuntary movements, Hemidystonia |
ORPHA:1929 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Optic atrophy, Ataxia, Dystonia |
OMIM:619310 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... |
OMIM:251900 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype... |
ORPHA:401866 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Nonproducti... |
ORPHA:2902 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric... |
OMIM:618775 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Diabetes mellitus, Ataxia, Morning glory anomaly, Sensorineural hearing impair... |
ORPHA:98673 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:99826 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clon... |
ORPHA:206436 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Increased ... |
OMIM:222470 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy, Hypsarrhythmia |
OMIM:618776 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pericarditis, Pneumonia, Pericardial effusion, Thrombocytopen... |
ORPHA:781 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Neutrophilia, Weakness due to upper motor neuron dys... |
ORPHA:79139 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... |
ORPHA:309155 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Diabetes mellitus, Hearing impairment, Inability to wa... |
ORPHA:95 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tremor, Tachypnea, Cough, Hyp... |
ORPHA:90068 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... |
ORPHA:3260 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Leukopenia, Cardiomyopath... |
OMIM:251000 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Hypertonia, Spas... |
ORPHA:544503 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... |
ORPHA:216866 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia, Hearing impairment |
ORPHA:53 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Hyp... |
OMIM:220110 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Methanol Poisoning |
|
Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use... |
ORPHA:31825 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Maternal diabetes, Sensorineural hearing impairmen... |
ORPHA:3157 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, De... |
OMIM:617093 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Ataxia, Dilated cardiomyopathy, Optic atrophy, Normochromic microcy... |
OMIM:610198 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissenceph... |
ORPHA:89844 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seiz... |
OMIM:105210 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Elevated circu... |
ORPHA:247691 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Retinal dystrophy, Optic atrophy, Chorioretinal coloboma, Polydipsia, Anemia |
OMIM:243910 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level |
OMIM:242860 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Oligomeganephronia |
|
Secundum atrial septal defect, Optic disc coloboma, Elevated circulating creatinine concentration... |
ORPHA:2260 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp... |
ORPHA:276 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
Immunodeficiency 56 |
|
Failure to thrive, Panhypogammaglobulinemia |
OMIM:615207 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Hypert... |
OMIM:619854 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Panhypogammaglobulinemia, Decreased circulating antibody l... |
OMIM:601495 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... |
ORPHA:765 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait... |
ORPHA:1947 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy |
ORPHA:86812 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... |
OMIM:271245 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Opisthotonus, Decreased ci... |
ORPHA:508533 |
Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concen... |
OMIM:266500 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Limb dystonia, Hypertrophic cardiomyopathy, I... |
OMIM:604377 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... |
OMIM:614388 |
Dubowitz Syndrome |
|
Hyperactivity, Aplastic anemia, Protruding ear, Acute lymphoblastic leukemia, Low-set ears, Hypoc... |
OMIM:223370 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... |
ORPHA:199241 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clon... |
OMIM:268800 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, Lethargy, Hypertrophic ca... |
OMIM:618228 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Heart murmur, ... |
ORPHA:284979 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci... |
OMIM:259700 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia |
OMIM:617235 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... |
ORPHA:791 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Tinnitus, Decreas... |
ORPHA:231580 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ... |
ORPHA:48818 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Abnormal heart morphol... |
ORPHA:2185 |
Krabbe Disease |
|
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality,... |
OMIM:245200 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... |
OMIM:615468 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:613672 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair |
ORPHA:66633 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Mediastinal lympha... |
ORPHA:79128 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Failure to thrive, Ataxia, Impaired T cell function |
OMIM:201100 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Generalized-onset seizure, Paralysis, Focal-onset seizure, Leukocytosis, Sta... |
ORPHA:83601 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Low-set ears, Atrial septal defect... |
ORPHA:79076 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... |
ORPHA:845 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... |
OMIM:614298 |
Bloom Syndrome |
|
Small for gestational age, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:125 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Joi... |
OMIM:612852 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:94080 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dysphagia, Dystonia |
OMIM:618230 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Abnormal hair morphology, Acute leukemia, Aplasia/Hypoplasia of the lungs... |
ORPHA:289 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory failure, Spas... |
ORPHA:803 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Protruding ear, Anemia, Vit... |
OMIM:620185 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Dysph... |
OMIM:614707 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... |
OMIM:620028 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Per... |
OMIM:235510 |
Scrub Typhus |
|
Tremor, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Restrictive ventilatory defect, Hypo... |
ORPHA:83317 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Yellow nails, Dy... |
ORPHA:662 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Hypertonia, Gait distu... |
ORPHA:682 |
Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Tremor, Dehydration, Anemia, Neutropenia, Failu... |
OMIM:251100 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam ce... |
OMIM:607625 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Chorioretinal coloboma, Iris... |
ORPHA:1473 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Long eyelashes, Emphysema, Failure to thrive, Br... |
OMIM:224690 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Optic atrophy, EEG abnormality, Gait disturbance, Retinal dysplasia |
ORPHA:272 |
Muscle-Eye-Brain Disease |
|
EEG abnormality, Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance |
ORPHA:588 |
Selective Igm Deficiency |
|
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... |
ORPHA:331235 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal heart morphology, Pigmentary retinopathy,... |
ORPHA:79264 |
Congenital Myopathy 15 |
|
Reduced forced vital capacity, Tricuspid regurgitation, Vocal cord paralysis, Polyhydramnios |
OMIM:620161 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog... |
OMIM:619055 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia |
OMIM:619686 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
Cach Syndrome |
|
Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Hepatosplenomegaly, Limb ataxia, Dysphagia,... |
ORPHA:135 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Athetosis, Dystonia, Loss of ... |
OMIM:617951 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Typical absence seizure, Focal-onset s... |
ORPHA:168491 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Opisthotonus, Status ep... |
OMIM:616672 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation |
OMIM:250950 |
Macrocephaly/Autism Syndrome |
|
Speech apraxia, Large for gestational age, Obesity, Decreased circulating antibody level |
OMIM:605309 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol... |
ORPHA:84081 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, ... |
OMIM:274150 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Cardiac ... |
ORPHA:85451 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:612989 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Edema, Sple... |
ORPHA:90051 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy |
ORPHA:477814 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula... |
ORPHA:449400 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Retinal p... |
OMIM:219800 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Ventricular septal defect, Low-set ears, Hypocholes... |
OMIM:244450 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Glycosuria, Hypophosphatem... |
ORPHA:411629 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level |
OMIM:615122 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Jaw claudication, Weight loss, Seizure, Syncope, Bradycardia |
ORPHA:221098 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Hypertonia, Syncope, Myoclonus |
OMIM:614618 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Optic atrophy, Anemia, Low-set ears, Retinopathy, Thrombocytopenia |
ORPHA:79325 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Gait ataxia, Facial hirsuti... |
OMIM:619383 |
Lafora Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... |
ORPHA:501 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:90045 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Spasticity, Seizure |
OMIM:618718 |
Glioblastoma |
|
Seizure, Paralysis |
ORPHA:360 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Incre... |
OMIM:606002 |
Lissencephaly 8 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Tremor, Reduced forced... |
OMIM:164310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617780 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Dysphagia, Gait ataxia, Choreoathetosis, Gait disturbance, Dystonia, Loss ... |
ORPHA:225154 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Right ve... |
ORPHA:97287 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, ... |
OMIM:234200 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor |
ORPHA:97285 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:616005 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Optic atrophy, EEG abnormality, Fasting hypogl... |
OMIM:261680 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Canavan Disease |
|
Optic atrophy, Multifocal epileptiform discharges, Increased circulating N-acetylaspartic acid co... |
OMIM:271900 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperurice... |
ORPHA:134 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:607259 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Bilateral sensorin... |
ORPHA:436271 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Optic atrophy, Coloboma, Low-set ears, Dysphagia |
OMIM:612379 |
Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Iron ... |
ORPHA:358 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Familial Cold Urticaria |
|
Sensorineural hearing impairment, Polydipsia |
ORPHA:47045 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Polyhydramnios, Low anterio... |
ORPHA:329178 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... |
ORPHA:504476 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia,... |
OMIM:257220 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Dys... |
OMIM:612674 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Addictive alcohol use, Left ventricular hypertrophy, Hypercholesterolemia, Hypergly... |
ORPHA:90065 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Hypopi... |
OMIM:214500 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Griscelli Syndrome |
|
Spasticity, Ataxia, Bone marrow hypocellularity, Decreased circulating antibody level |
ORPHA:381 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Apnea, Cardiac conduction abnormality, Dyspnea, Chorea, Dilated cardiomyopa... |
ORPHA:255210 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... |
ORPHA:508093 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity |
OMIM:617664 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ... |
ORPHA:369840 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Hearing impairment |
ORPHA:2801 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Abnormal heart morphology, Lo... |
ORPHA:93399 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Frequent falls, Ataxia |
OMIM:620166 |
Immunodeficiency 23 |
|
Ataxia, Increased circulating IgE level, Increased circulating IgG level, Increased circulating I... |
OMIM:615816 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Hypoglycemia, Megaloblastic ... |
ORPHA:79282 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy,... |
ORPHA:909 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag... |
OMIM:616878 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Sple... |
ORPHA:354 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Spasticity, Hypopnea, Hyperto... |
OMIM:618426 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Periodic paralysis |
ORPHA:757 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Myoclonus, Asp... |
ORPHA:314655 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormal EKG, Abnormal central mo... |
ORPHA:3385 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Slurred speech, Seizure, Gait disturbance, Myoclonus |
ORPHA:812 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, Seizure, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Hand tremor, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait, Dystonia, ... |
ORPHA:289560 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment |
ORPHA:65 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Sparse scalp hair, Fair hair, Failure to thrive, Small for gestational age, Portal ... |
OMIM:243800 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Failure to thrive in infancy, Increased circulating IgA level |
OMIM:617099 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Bulimia, Anterior creases ... |
ORPHA:314389 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Paraparesis, Paraplegia, Abnormal circulating interferon-gamma conc... |
ORPHA:79124 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Ventricular tachycardia, Seizure, Paresthesia, Palpitat... |
OMIM:263800 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... |
ORPHA:99027 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Optic atrophy, Dysphagia, Blepharospasm, Pigmentary retinopathy, Athet... |
OMIM:617282 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... |
ORPHA:98768 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Failure to thrive |
ORPHA:33110 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... |
ORPHA:71493 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Obesity, Decreased circulating IgA level |
ORPHA:369837 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo... |
OMIM:615559 |
Arts Syndrome |
|
Optic atrophy, Dysphagia, Ataxia, Hearing impairment |
OMIM:301835 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Hypertension, Hypovol... |
ORPHA:2912 |
Erdheim-Chester Disease |
|
Ataxia, Abnormal pericardium morphology, Xanthelasma, Abnormal aortic valve morphology, Polydipsi... |
ORPHA:35687 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... |
ORPHA:35069 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Failure ... |
ORPHA:2929 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Spasticity, Increased circulating IgG level, Defective T cell pr... |
OMIM:618213 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hypertension |
OMIM:145260 |
Nephronophthisis 4 |
|
Polydipsia, Anemia |
OMIM:606966 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal... |
OMIM:614947 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Dysd... |
ORPHA:502423 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shock, D... |
OMIM:619424 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Decreased circulating antibody level |
OMIM:619750 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insuffi... |
OMIM:614437 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Tremor, Sparse eyebrow, Seizure, Failure to thrive, Decreased body mass index, ... |
ORPHA:370079 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Increased body weight, Seizure, Paresthesia, P... |
ORPHA:97279 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Absent eyelashes, Lissencephaly, Pulmonary hypoplasia, Generalized edema |
OMIM:256520 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Orotic Aciduria |
|
Failure to thrive, Impaired T cell function |
OMIM:258900 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Tremor, Hematochezia, Seizure, Cholestatic liver disease, Cholelith... |
ORPHA:79095 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nuclei, Oligohydramnios |
OMIM:615578 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Elevated transferrin saturation, Inc... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep... |
OMIM:615595 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... |
OMIM:606367 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Dend Syndrome |
|
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia |
ORPHA:79134 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Tremor, Seizure, Hypertrophic cardiomyopathy, Status epilepticus, Myoclonus... |
OMIM:607426 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... |
ORPHA:99095 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Subdural h... |
ORPHA:25 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Abnormal liver lo... |
OMIM:608022 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Failure to thrive, Weight loss |
ORPHA:47 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:613011 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:1145 |
Nephronophthisis 1 |
|
Polydipsia, Anemia |
OMIM:256100 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... |
OMIM:152950 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Dystonia, Ataxia, Pain insensitivity, Hepa... |
OMIM:256810 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Abnormality of hair textur... |
ORPHA:79351 |
Colchicine Poisoning |
|
Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia,... |
ORPHA:31824 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level |
OMIM:616638 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Aganglionic megacolon, Posteriorly rotated ears, Ventricular septal ... |
OMIM:270400 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... |
OMIM:620306 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia |
ORPHA:79254 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abnormal pyramid... |
ORPHA:646 |
Listeriosis |
|
Respiratory distress, Pericarditis, Liver abscess, Ataxia, Pneumonia, Somatic sensory dysfunction... |
ORPHA:533 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, O... |
ORPHA:370959 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr... |
ORPHA:1199 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Thick hair, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment,... |
OMIM:617675 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Hypoglycemia, Secundum atri... |
OMIM:609069 |
Keutel Syndrome |
|
Sinusitis, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Em... |
OMIM:245150 |
Inhalational Botulism |
|
Dyspnea, Xerostomia, Paralysis |
ORPHA:254504 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Increase... |
OMIM:617595 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaun... |
ORPHA:309854 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Postural tremor, Optic atrophy, Dysmetria, Dysphagia, Autonomic bladder dysfunction, Dyst... |
ORPHA:447896 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Cardiomegaly, Respirato... |
ORPHA:365 |
Cockayne Syndrome A |
|
Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ... |
OMIM:216400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Unilateral lung agenesis, Transient ischemic attack, Failure to t... |
ORPHA:500150 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Cachexia, Congestive heart failure, Emphysema, Pulmonary artery dilatat... |
ORPHA:558 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Gait disturbance, Chorio... |
ORPHA:163937 |
Meningococcal Meningitis |
|
Papilledema, Anorexia, Elevated circulating C-reactive protein concentration, Lethargy, Hearing i... |
ORPHA:33475 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Obesity, Tetraplegia, Weight los... |
ORPHA:79102 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Machado-Joseph Disease Type 3 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276244 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Dystonia, Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Dysphagia |
OMIM:618868 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, El... |
ORPHA:3008 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Hypotens... |
ORPHA:340 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... |
ORPHA:395 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Tremor, Inability to walk, Chorea,... |
OMIM:615356 |
Thymoma |
|
Weight loss, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circula... |
ORPHA:99867 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment, EEG abnormality |
ORPHA:141 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Thick eyebrow, Ataxia, Generalized clonic seizure, Tremor, Inability to wa... |
OMIM:619229 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to th... |
OMIM:251110 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Fine... |
OMIM:612199 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Progressive sensorineural hearing impairment, Anemia |
ORPHA:575 |
Joubert Syndrome |
|
Ataxia, Apnea, Highly arched eyebrow, Episodic tachypnea, Tremor, Abnormality of neuronal migrati... |
ORPHA:475 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Dystonia |
OMIM:256000 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Polyhydramnios |
OMIM:300219 |
Moebius Syndrome |
|
Respiratory distress, Dysdiadochokinesis, Poor coordination, Clumsiness |
OMIM:157900 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... |
ORPHA:3309 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Orthostatic hypotension, Abnormal circulating lipid concentration,... |
ORPHA:186 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Toxic Epidermal Necrolysis |
|
Neutropenia, Anemia, Dysphagia, Abnormal myocardium morphology, Polydipsia, Thrombocytopenia |
ORPHA:537 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Spleno... |
OMIM:615688 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... |
OMIM:617854 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... |
ORPHA:348 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Thromb... |
OMIM:259720 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Bilateral tonic-clonic seizure ... |
ORPHA:2072 |
Neuronal Intranuclear Inclusion Disease |
|
EEG abnormality, Optic atrophy, Ataxia |
ORPHA:2289 |
Amish Nemaline Myopathy |
|
Tremor, Respiratory insufficiency due to muscle weakness |
ORPHA:98902 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Slurred speech, Progressive cerebellar ataxia, Sparse hair, E... |
ORPHA:2834 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Low-set ears |
OMIM:608688 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Tremor, Obesity, Seizure, Gait imbalance, Myo... |
ORPHA:98794 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Obesity |
ORPHA:66628 |
Madras Motor Neuron Disease |
|
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Tinnitus |
ORPHA:137867 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Decreased circulating IgA level |
ORPHA:457485 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance,... |
ORPHA:2971 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration, Pseudobul... |
OMIM:213700 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Inabili... |
OMIM:617799 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia... |
ORPHA:293987 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Failure to thrive, Increased circulating IgA level |
OMIM:617388 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, ... |
ORPHA:171 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Low-set ears |
OMIM:617729 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Walker-Warburg Syndrome |
|
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Posteriorly rotated ears, Optic a... |
ORPHA:899 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Apnea, Choreoathetosis, Hyp... |
ORPHA:17 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia |
OMIM:304800 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Pain insensitivity, Involun... |
OMIM:615273 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,... |
OMIM:154700 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Tremor, Gait ataxia, Abnormality of the liver, Hypertonia, Ataxia, Dilated cardiomyopathy,... |
ORPHA:254892 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Sensorineural hea... |
ORPHA:101076 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Obesity |
ORPHA:179494 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Sensorineural hearing impairment, Hypokalemia, Polydipsia, Enlarged vestibular ... |
ORPHA:18 |
Scorpion Envenomation |
|
Bundle branch block, Edema, Tremor, Tachypnea, Prominent U wave, Hemifacial spasm, Ataxia, Myoclo... |
ORPHA:466677 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Bronchiolit... |
ORPHA:90348 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonem... |
OMIM:253260 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor, Respiratory insufficiency |
OMIM:605355 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemi... |
ORPHA:2609 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... |
OMIM:164400 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Ataxia, Apnea, Portal hypertension, Highly arched eyebrow, Tremor, Congenital hepat... |
ORPHA:1454 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... |
OMIM:618131 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Oligohydramnios, Respiratory insufficiency, Hypertensi... |
OMIM:614052 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Icf Syndrome |
|
Decreased circulating antibody level |
ORPHA:2268 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:261 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level |
OMIM:615952 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy, Hearing impairment |
OMIM:614651 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98853 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... |
ORPHA:330015 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Hydrops fetalis... |
ORPHA:79329 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis, Cerebral edema |
OMIM:617186 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow, Failure to thrive |
ORPHA:2707 |
Leigh Syndrome |
|
Dystonia, Ataxia, Ventricular septal defect, Hypoglycemia, Sensorineural hearing impairment, Opti... |
ORPHA:506 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... |
OMIM:127000 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im... |
ORPHA:293967 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent epi... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent epi... |
ORPHA:590 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
Mannosidosis, Alpha B, Lysosomal |
|
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Decreased circulating antibody ... |
OMIM:248500 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Abno... |
ORPHA:93400 |
Say-Barber-Miller Syndrome |
|
Impaired neutrophil chemotaxis, Babinski sign, Transient hypogammaglobulinemia of infancy, Decrea... |
ORPHA:3132 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Hemiparesis, Increased circulating IgG level, Increased circulating IgM l... |
ORPHA:319251 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Abnor... |
OMIM:133540 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Self... |
ORPHA:847 |
Friedreich Ataxia |
|
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Hypertrophic cardiomyopathy, ... |
OMIM:229300 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy, Gait ataxia |
OMIM:618800 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tricuspid regurg... |
OMIM:620066 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Cardiomy... |
ORPHA:572798 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Voca... |
ORPHA:98863 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... |
OMIM:618986 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Ataxia, Decreased circulating antibody level, Failure to thrive,... |
OMIM:617062 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus |
OMIM:184850 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Ataxia, Hepatosplenomegaly |
ORPHA:309288 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paralysis |
OMIM:612300 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Cardiomyopathy... |
OMIM:620089 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Ascites... |
OMIM:620369 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardiomyopathy, Gai... |
OMIM:619259 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Ataxia, Decreased circulating IgA level |
OMIM:212750 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... |
OMIM:260400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:28378 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, ... |
OMIM:231680 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Apnea, Highly arched eyebrow, Tremor, Oculomotor apraxia, Polymicrogyria, Abnormal patter... |
ORPHA:220497 |
Encephalitis Lethargica |
|
Tremor, Increased circulating antibody level, Parkinsonism |
ORPHA:83600 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, EEG with gener... |
OMIM:617864 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis |
OMIM:302802 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp... |
OMIM:230600 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Hypoplastic optic chiasm, Hypsarrhythmia, Dysphagia, Dystonia, Hearing impairment |
OMIM:617669 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Seizure, Vocal cord paralysis |
ORPHA:397744 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... |
ORPHA:141127 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Hypertrophic cardiomyopathy, Exertional ... |
OMIM:616539 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Increased body weight, Seizure, Pan... |
ORPHA:263455 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Sensorineural hearing impairment... |
ORPHA:585 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis... |
ORPHA:297 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Tar... |
OMIM:603903 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... |
ORPHA:1546 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Mpdu1-Cdg |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Hypsarrhythmia |
ORPHA:79323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... |
ORPHA:98791 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S... |
ORPHA:2203 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Decreased circulating antibody level |
OMIM:616084 |
Viss Syndrome |
|
Sparse scalp hair, Epidural hemorrhage, Alopecia, Polyhydramnios, Dyspnea, Asthma, Pneumothorax, ... |
OMIM:619472 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:276621 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... |
ORPHA:69665 |
Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Tachypnea, Hypertension, Hypertonia, Myoclonus, Hypotension |
ORPHA:43116 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Vocal cord paralysis |
OMIM:615490 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Impaired T cell function, Abnormal lymphocyte physiology, Hemiparesis,... |
ORPHA:1830 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Seizure, Ti... |
ORPHA:512 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Abnormality of coordination, Ataxia, Angina pectoris, Lymphed... |
ORPHA:79318 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Dysgyria, Limb hypertonia |
OMIM:620327 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Laryngeal Abductor Paralysis |
|
Stridor, Vocal cord paralysis |
OMIM:150260 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Sparse eyebrow, Low posterior hairline, Granulocytopenia |
OMIM:606164 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Ataxia, Apnea, Spastic paraparesis, Hyperventilation |
ORPHA:79241 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Schimke Immunoosseous Dysplasia |
|
Abnormal immunoglobulin level, Small for gestational age, Decreased circulating antibody level |
OMIM:242900 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Melas |
|
Peripheral axonal neuropathy, Diabetes mellitus, Ataxia, Sensorineural hearing impairment, Dilate... |
ORPHA:550 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Ventricular septal defect, Abnormal optic disc morphology, Low-set ears, Truncus a... |
OMIM:617516 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Failure to thrive, Nail dystrophy |
ORPHA:2309 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, ... |
OMIM:619167 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Splenomegaly, Inability to walk, Optic ... |
ORPHA:404454 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... |
ORPHA:3342 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Paralysis, Rigidity, Abnormal eyelash morphology, Tetraplegia, Hemiparesis, Seizure, Hy... |
ORPHA:2396 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Decreased circulating IgA level |
OMIM:613385 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysphagia, Dysdi... |
OMIM:610217 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Polydipsia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile a... |
ORPHA:731 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Spl... |
OMIM:614866 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Elevated circulating creatine kinase concentration, Optic atrophy, Dysphagia, Dystonia, M... |
ORPHA:496641 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Failure to thrive |
ORPHA:83617 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp... |
OMIM:602522 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Apnea, Highly arched eyebrow, Tremor, Oculomotor apraxia, Polymicrogyria, Abnormal patter... |
ORPHA:220493 |
Alexander Disease |
|
Ataxia, Clonus, Sudden cardiac death, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizu... |
ORPHA:58 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Apnea, Clonus, Tremor, Jaundice, Hypopnea, Respiratory failure, Hypertonia, Bradycardia... |
OMIM:617248 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Paralysis |
OMIM:242100 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Thickened helices, Conductive hearing impairment, Loss of ambulation, Retinal degen... |
ORPHA:581 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... |
ORPHA:99956 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Cowden Syndrome 1 |
|
Intention tremor, Decreased circulating antibody level |
OMIM:158350 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity |
OMIM:301078 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... |
ORPHA:2715 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Good Syndrome |
|
Decreased circulating antibody level |
ORPHA:169105 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... |
ORPHA:466768 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Diabetes mellitus, Hyperuricemia, Hearing impairment |
ORPHA:93111 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, ... |
ORPHA:79404 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural heari... |
OMIM:614863 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:243150 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow |
ORPHA:990 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Periodic paralysis, Splenomegaly, M... |
OMIM:276700 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... |
ORPHA:520 |
Monosomy 18Q |
|
Poor coordination, Choreoathetosis, Failure to thrive, Slender build, Decreased circulating IgA l... |
ORPHA:1600 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure, Elevated hemoglobin A1c |
OMIM:619278 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen... |
ORPHA:2388 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... |
ORPHA:93325 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Abnormal heart morphology |
OMIM:175700 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Medial flaring of the eyebrow, Respiratory distress, Tricuspid regu... |
OMIM:612863 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level |
OMIM:617425 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatem... |
ORPHA:2088 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia, Steatorrhea |
ORPHA:440713 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... |
OMIM:241200 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... |
OMIM:616482 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Periphera... |
OMIM:250100 |
Pettigrew Syndrome |
|
Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi... |
OMIM:304340 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Pgm3-Cdg |
|
Ataxia, Increased circulating IgA level, Increased circulating IgE level, Increased circulating I... |
ORPHA:443811 |
Marchiafava-Bignami Disease |
|
Ataxia, Facial palsy, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance |
ORPHA:221074 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Eosinophilia, Abnormality of the spleen, Mediastin... |
ORPHA:228123 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy... |
OMIM:619471 |
Rodrigues Blindness |
|
Sparse hair, Nasal flaring, Fine hair |
OMIM:268320 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Akinesia, Acanthocytosis, Hand tremor, Prominent antihelix,... |
OMIM:618947 |
Immunodeficiency 17 |
|
Failure to thrive, Chronic decreased cirulating IgG2 |
OMIM:615607 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level |
OMIM:613327 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcem... |
OMIM:617913 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Pericardial effusion, Thrombocytosis, Polycythemia, Visceromegaly |
ORPHA:2905 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Repeated pneumothoraces, Atelectasis, Respiratory insufficienc... |
ORPHA:536467 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... |
ORPHA:892 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Coloboma, Hypokalemia, Glycosuria, Subvalvular aortic stenosis, Polydipsia |
ORPHA:47159 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Hypertensive crisis, Oculogyric crisis, Pulmonary ... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy |
OMIM:616811 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Hypovolemia, Weight loss, Apraxia, Gen... |
ORPHA:99885 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Bicuspid aortic valve, Ventric... |
ORPHA:438213 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-set ears, Dystonia, Cherry ... |
ORPHA:79255 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... |
ORPHA:2330 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Xerostomia, Decreased body weight, Severe failure to thr... |
ORPHA:1051 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Paraparesis, Increased circulating IgG4 level |
ORPHA:449427 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Polyhydramnios, Cardiomegaly, Asplen... |
OMIM:306955 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... |
OMIM:248370 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Neonatal inspiratory stridor |
ORPHA:684 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response t... |
ORPHA:83471 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Abnormal au... |
OMIM:231550 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Optic atrophy, Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
Aniridia 2 |
|
Aniridia, Optic atrophy, Iris coloboma |
OMIM:617141 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
ORPHA:935 |
Plague |
|
Respiratory distress, Hepatomegaly, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly,... |
ORPHA:707 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:29072 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hyperalaninemia, Optic disc pallor, Hepatomegaly, Ataxia, Hypoglycemia, Optic neuropathy, Splenom... |
OMIM:252010 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... |
OMIM:620358 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Abnormal cortical gyration, Unilateral br... |
OMIM:300968 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Intention tremor,... |
ORPHA:191 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Ventricular septal defect, Abnormal repetitive mannerisms, Sensorineura... |
OMIM:301040 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia |
OMIM:300100 |
Kallmann Syndrome |
|
Ataxia, Tremor, Obesity, Paraplegia, Seizure, Gait disturbance, Breast hypoplasia |
ORPHA:478 |
Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia, Polyhydramnios |
OMIM:100800 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukope... |
ORPHA:1328 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking |
ORPHA:3198 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Supernumerary nipple |
ORPHA:2519 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation... |
OMIM:170390 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Rod-cone dystrophy |
OMIM:601539 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Retinal... |
OMIM:310600 |
Acute Intermittent Porphyria |
|
Tachycardia, Somatic sensory dysfunction, Tremor, Respiratory insufficiency, Hypertension, Pseudo... |
ORPHA:79276 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Ataxia, Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia, H... |
OMIM:124000 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Small for gestational age |
OMIM:601675 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hyp... |
ORPHA:210122 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Small for gestational age, Highly arched eyebrow, Increased hepatocellular lipi... |
OMIM:220111 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia |
OMIM:307200 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:99880 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Ta... |
ORPHA:99125 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:143 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pig... |
OMIM:610651 |
Donohue Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Postprandial hyperglycemia, Hyperglycemia, ... |
OMIM:246200 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Dilatate... |
ORPHA:1435 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Oculo-Palato-Cerebral Syndrome |
|
Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Norrie Disease |
|
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Whim Syndrome |
|
Poor fine motor coordination, Limb ataxia, Decreased circulating antibody level |
ORPHA:51636 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Hypertension |
ORPHA:1555 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Polyhydramnios, Low anterior hairline, Hepatic hemangioma, Frontal hirsutis... |
OMIM:180849 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Recurrent upper respiratory tract infections, Truncal ob... |
ORPHA:404448 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Tremor, Hemiplegia/hemiparesis, Thrombocytopenia, Splenomegal... |
ORPHA:355 |
Sotos Syndrome |
|
Tremor, Small cell lung carcinoma, Sparse anterior scalp hair, Poor coordination, Pedal edema, Ac... |
ORPHA:821 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... |
ORPHA:90324 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyela... |
OMIM:305100 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormality of hair texture, Tremor, Splen... |
ORPHA:667 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Periventricular heterotopia |
OMIM:618733 |
Short Syndrome |
|
Sensorineural hearing impairment, Insulin resistance, Insulin-resistant diabetes mellitus, Glucos... |
OMIM:269880 |
Vici Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Decreased T cell activation, Cutaneous anergy... |
OMIM:242840 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Aplasia/Hypoplasia of the earlobes, Optic atrophy, EEG abnormality, Absent earlobe |
OMIM:609037 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:293978 |
Joubert Syndrome 21 |
|
Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Dysphagia, ... |
OMIM:615636 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Tremor, Hemiplegia/hemiparesis, Neonata... |
ORPHA:51 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Obesity, Oligoh... |
ORPHA:177907 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Ventricular septal defect, Aggre... |
ORPHA:96121 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Trichothiodystrophy |
|
Abnormal pyramidal sign, Gait ataxia, Hypertonia, Intention tremor, Spasticity, Panhypogammaglobu... |
ORPHA:33364 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Impaired T cell function |
OMIM:176690 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increas... |
OMIM:227810 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Optic atrophy, Type II diabetes mellitus, Ataxia |
OMIM:604121 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Sparse scalp hair, Neonatal respiratory d... |
OMIM:614748 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Aortic valve calcif... |
ORPHA:79474 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Weight loss, Increased circulating IgG4 level, Increased circula... |
ORPHA:79078 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Small for gestational age, Lower limb hypertonia, Failure to thrive, Abnormal isohemagglu... |
ORPHA:99843 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Small for gestational age, Pulmonary artery stenosis, Bi... |
ORPHA:2255 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... |
ORPHA:508498 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Periodic hypokalemic paresis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Myeloid leukemia, Failure to thrive in infancy, Recurrent pneumonia, Vocal ... |
ORPHA:798 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Polyhydramnios, Tracheobr... |
OMIM:114290 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dystonia, ... |
OMIM:616268 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Severe sensorineural hearing impairment, Abnormal optic disc morphology, Optic atrophy, Low-set ears |
ORPHA:363417 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormali... |
OMIM:253280 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Supraventricular arrhythmia, Tremor, Congestive heart failure, Weight los... |
ORPHA:91347 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr... |
ORPHA:268882 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Hyperglycemia |
OMIM:615954 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Azotemia |
OMIM:619321 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Brucellosis |
|
Small for gestational age, Chorea, Weight loss, Increased circulating IgG level, Increased circul... |
ORPHA:1304 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Edema, Cardiomegal... |
ORPHA:51608 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Paraparesis, Obesity, Abnormality of extrapyramidal motor funct... |
ORPHA:2822 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... |
OMIM:300166 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Degcags Syndrome |
|
Polyhydramnios, Synophrys, Vocal cord paralysis, Low anterior hairline, Premature graying of hair... |
OMIM:619488 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Cardiomyopathy, Re... |
ORPHA:416 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Decreased circulating antibody level |
ORPHA:175 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Dilated card... |
ORPHA:2556 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia... |
ORPHA:508 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo... |
ORPHA:73224 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia, Failure to thrive |
ORPHA:2554 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Primary Sjögren Syndrome |
|
Chorea, Decreased circulating antibody level, Increased circulating antibody level, Decreased cir... |
ORPHA:289390 |
Autoimmune Polyendocrinopathy Type 4 |
|
Decreased circulating antibody level |
ORPHA:227990 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Syndromic Diarrhea |
|
Small for gestational age, Panhypogammaglobulinemia |
ORPHA:84064 |
Autoimmune Polyendocrinopathy Type 3 |
|
Decreased circulating antibody level |
ORPHA:227982 |
Isolated Osteopoikilosis |
|
Addictive alcohol use, Abnormal heart morphology |
ORPHA:166119 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Synophrys, Poor coordination, Nasal flaring, Obesity |
ORPHA:466943 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Oligohydramnios |
ORPHA:3206 |
Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Abnormality of humoral immunity, Increased circulating anti... |
ORPHA:470 |
Pineoblastoma |
|
Seizure, Paralysis |
ORPHA:251909 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Retinal dystrophy, Subretinal deposits, Abnormal optic disc mo... |
ORPHA:397715 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Small for gestational age, Highly arched eyebr... |
ORPHA:508488 |
Nijmegen Breakage Syndrome |
|
Dysgammaglobulinemia |
OMIM:251260 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Hennekam Syndrome |
|
Decreased circulating antibody level |
ORPHA:2136 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Hepatomegaly, Respiratory distress, Polyhydramnios |
OMIM:617088 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Low anterior hairline, Myoclonus, Aspiration pneumonia, Thr... |
ORPHA:79500 |
Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertens... |
ORPHA:64 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Coronary sinus enlargemen... |
OMIM:619268 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear... |
OMIM:619539 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Thrombocytopenia-Absent Radius Syndrome |
|
Decreased circulating antibody level |
OMIM:274000 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... |
ORPHA:98889 |
Feingold Syndrome 1 |
|
Accessory spleen, Tricuspid stenosis, Polyhydramnios, Asplenia, Vocal cord paralysis, Polysplenia... |
OMIM:164280 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, Patent foramen ovale,... |
OMIM:600001 |
Arachnoid Cyst |
|
Hemiparesis, Paraparesis, Slurred speech, Tetraparesis |
ORPHA:2356 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Curly hair, Abnormal cortical gyration, Cyst of the ductus choledochus, Car... |
ORPHA:480880 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Ventricular septal defect, Sensorine... |
ORPHA:444077 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Fasciculations |
ORPHA:99827 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Yellow Fever |
|
Increased circulating IgM level, Increased circulating interleukin 6 concentration |
ORPHA:99829 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3404 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
22Q11.2 Deletion Syndrome |
|
Failure to thrive, Impaired T cell function, Obesity |
ORPHA:567 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... |
OMIM:157170 |
Sponastrime Dysplasia |
|
Small for gestational age, Decreased circulating antibody level |
ORPHA:93357 |
Oculodentodigital Dysplasia |
|
Paraparesis, Spasticity, Ataxia, Tetraparesis |
OMIM:164200 |
Acute Transverse Myelitis |
|
Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, Spasticity,... |
ORPHA:139417 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia, EEG with generalized slow activity |
OMIM:618367 |
Digeorge Syndrome |
|
Hemiparesis, Impaired T cell function, Obesity |
OMIM:188400 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia, Acute myelomonocytic leukemia, Lymphangioma, Failure t... |
ORPHA:99646 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Ventricular septal defect, Microtia, Low-... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Poor fine motor coordination, Spasticity, Failure to thrive, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Spasticity, Decreased body weight, Ataxia, Decreased circulating antibody level |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Poor fine motor coordination, Spasticity, Failure to thrive, Decreased circulating antibody level |
ORPHA:261552 |
Split Cord Malformation |
|
Paraparesis |
ORPHA:573278 |