| Sinoatrial Node Dysfunction And Deafness |
|
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability |
OMIM:614896 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Prominent antihelix, Long eyebrows, Glucose intolerance, Joint contractur... |
OMIM:614407 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Hyperammonemia, Hepatic steato... |
OMIM:212138 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... |
OMIM:610947 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossi... |
ORPHA:95717 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Hepatic steatosis, Hyper... |
OMIM:619048 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Decreased circulating carnitine concentration, Generalized dystonia, Hypertrophic cardiomyopathy,... |
OMIM:618235 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... |
ORPHA:66529 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... |
ORPHA:101016 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, EEG abnormality, Bradycardia, Flexion contra... |
OMIM:618815 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Hearing impairment, Bradycardia |
OMIM:616277 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Elevat... |
OMIM:613327 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypoketotic hypoglycemia, R... |
ORPHA:324575 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... |
OMIM:616299 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradyc... |
OMIM:614702 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... |
ORPHA:276580 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Sensorineural hearing impairment, Lethargy, Abnorm... |
ORPHA:95716 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Aminoacylase 1 Deficiency |
|
Bradycardia, Sensorineural hearing impairment |
OMIM:609924 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Portal hy... |
OMIM:232500 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... |
OMIM:617519 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Tetanus |
|
Autonomic bladder dysfunction, Tremor, Elevated circulating creatine kinase concentration, Opisth... |
ORPHA:3299 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Leth... |
ORPHA:391673 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Progressive hearing impairment, Arrhythmia, Gait disturbance, Bradycardia, Diabet... |
OMIM:609286 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Decreased nerve conduction velocity, Leg dystonia, Loss of ambulation, Hypsarrhythm... |
ORPHA:565624 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome, Prolonge... |
ORPHA:542306 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Autonomic bladder dysfunction, Hypertrophic card... |
ORPHA:330001 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... |
OMIM:606069 |
| Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Hypocalcemia, Pulmonary arterial hypertension, Ventricular ... |
OMIM:601005 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Elevated circulating creatine kina... |
OMIM:618775 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... |
ORPHA:1215 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, EEG with burst suppression, Inguinal hernia, Bradycardia, Abnormal autonomic nervo... |
OMIM:614498 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,... |
ORPHA:52368 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... |
OMIM:616812 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Glutamine Deficiency, Congenital |
|
Low-set ears, Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture |
OMIM:610015 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Sensorineural hearing impairment, Opisthotonus, Hypsarrhythmia, Bradycardia, Elevat... |
OMIM:220120 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Alopecia, Sparse eyebrow, Hy... |
OMIM:610768 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervou... |
ORPHA:94093 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... |
ORPHA:439232 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Abse... |
ORPHA:226313 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossi... |
ORPHA:90673 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Low-set ears, Hypotension, Cystathioninemia, Hypomethioninemia, Tremor, Lethargy, Pulmonary arter... |
OMIM:277400 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia, Ataxia |
OMIM:616949 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Hip contracture, Synophrys, Achilles tendon contracture, Os... |
OMIM:620351 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... |
OMIM:261740 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Whi... |
OMIM:600501 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent... |
OMIM:245480 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| Acitretin/Etretinate Embryopathy |
|
Cupped ear, Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia, Bilateral... |
ORPHA:40366 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Alopecia, Cardiomyopathy, Congestive heart failure, Inc... |
OMIM:235200 |
| Sepsis In Premature Infants |
|
Hypotension, Leukocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Neutropenia, Bradycardia... |
ORPHA:90051 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Lethargy, Thrombocytopenia, Cerebral hemorrhage, Hepatomegaly |
OMIM:617397 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Dystonia, Hypsarrhythmia, Jo... |
OMIM:618397 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Elevated circul... |
ORPHA:99826 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Opisthotonus, Pulmonary arterial hypertension, Inguinal hernia, Bradycardia |
OMIM:619272 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension, Diabetes mellitus |
OMIM:184850 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c... |
ORPHA:206443 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Resting tremor, Shock, Lymphopenia, Leukopenia, Leukocytosis, Elevated circulating C... |
ORPHA:319213 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... |
ORPHA:3240 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Abnormal circulating thyroglobulin conce... |
ORPHA:90674 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosen... |
ORPHA:99027 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Joint contract... |
OMIM:616881 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bun... |
ORPHA:99827 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... |
ORPHA:263455 |
| Sheehan Syndrome |
|
Sparse pubic hair, Hypoglycemia, Breast hypoplasia, Palpitations, Sensorineural hearing impairmen... |
ORPHA:91355 |
| Proximal Spinal Muscular Atrophy |
|
Elbow flexion contracture, Difficulty walking, Inability to walk, Facial diplegia, Multiple joint... |
ORPHA:70 |
| Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Foot joint contracture, Hearing impairment, Difficulty walking, Abnormality of per... |
ORPHA:90321 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im... |
ORPHA:3226 |
| Cockayne Syndrome A |
|
Dry hair, Reduced subcutaneous adipose tissue, Hip contracture, Sensorineural hearing impairment,... |
OMIM:216400 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Encephalitis Lethargica |
|
Lethargy, Tremor, Bradycardia |
ORPHA:83600 |
| Cockayne Syndrome B |
|
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Dry hair, Ivory ep... |
OMIM:133540 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A... |
OMIM:617523 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Syncope, Bradycardia, Jaw ... |
ORPHA:221098 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... |
OMIM:301078 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Ga... |
ORPHA:101085 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Sensorineural hearing impairment, Neutropenia, Bradycardia, Jaundice, Dystonia, Neonatal ... |
OMIM:617248 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Widow's peak |
OMIM:266265 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... |
OMIM:226990 |
| Yellow Fever |
|
Neutrophilia, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated... |
ORPHA:99829 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... |
ORPHA:98849 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... |
ORPHA:26793 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor,... |
OMIM:619260 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... |
OMIM:609136 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture... |
OMIM:614653 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Shock, Leukopenia, Leukocytosis, Lethargy, Neutrophilia, Elevated circulating C-reac... |
ORPHA:36238 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Lymphadeno... |
OMIM:617099 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Sparse lateral eyebrow, Recurrent otitis media, Tricuspid regurgitation, Trichorrhexis ... |
OMIM:261990 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, T... |
ORPHA:90037 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... |
OMIM:193700 |
| Mogs-Cdg |
|
Optic atrophy, Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Sensorineural hearing imp... |
ORPHA:79330 |
| Myotonic Dystrophy 2 |
|
Insulin insensitivity, Frontal balding, Palpitations, Type II diabetes mellitus, Elevated circula... |
OMIM:602668 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Umbilical hernia, Sensorineural hearing impairment, Lethargy, Delayed proximal femo... |
ORPHA:226307 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Hepatomegaly, Monocytosis, Lymphadeno... |
OMIM:619644 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Cholelithiasis, Congenital contracture, Annular pancreas, Hypertrichosis, Low-set,... |
ORPHA:97297 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Sinus bradycardia |
OMIM:126320 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Inability to walk, Exaggerated startle response, Optic disc pallor, Flexion contra... |
OMIM:609541 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hyperbilirubinemia, Lethargy, Bradycardia, Increased circulating thyroglobulin ... |
OMIM:218700 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... |
ORPHA:206448 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... |
ORPHA:552 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Neutr... |
ORPHA:54251 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia |
OMIM:601612 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Cholelithiasis, Abnormal motor ev... |
ORPHA:909 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Difficulty walking, Multiple joint contractures, Exaggerated startle response, Opt... |
ORPHA:320406 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Lethargy, Limb tremor, Torticollis,... |
OMIM:608643 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... |
ORPHA:829 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... |
OMIM:145600 |
| Hyperekplexia 3 |
|
Hiatus hernia, Syncope, Exaggerated startle response |
OMIM:614618 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula |
ORPHA:93941 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, EEG with burst suppression, Hyperglycemia, Hyperglycinemia, Lethargy, Hypsarrhythmi... |
OMIM:620423 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circulating ... |
OMIM:612852 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Joint contracture, EEG with generalized slow activity, Exaggerated startle res... |
OMIM:617864 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Scorpion Envenomation |
|
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bu... |
ORPHA:466677 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Hypoglycem... |
ORPHA:137675 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Dilated cardiomyopathy, Abnormal blood ion concentration, Nail dystrophy, Enamel hypopl... |
ORPHA:79404 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response |
ORPHA:309155 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei... |
ORPHA:1930 |
| Sandhoff Disease |
|
Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatomegaly |
OMIM:268800 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Hypoglycemia, Difficulty walking, Gait ataxia, Hyperprolinemia, Hype... |
OMIM:620451 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Hearing impairment, Exaggerated startle response |
OMIM:620114 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Low-set ears, Hearing impairment, Cardiomyopathy, Hepatosple... |
ORPHA:79255 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Posteriorly rotated ears, Exaggerated startle response, Ataxia |
OMIM:618598 |
| Tay-Sachs Disease |
|
Optic atrophy, Increased serum beta-hexosaminidase, Hearing impairment, Laryngeal dystonia, Inabi... |
ORPHA:845 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Nail dystrophy, Neutrophilia, Elevated circulating C-reactive protein concentration... |
OMIM:614204 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Neutrophilia, Myeloproliferative disorder, Portal fibrosis, V... |
ORPHA:3260 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly... |
OMIM:620565 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Elbow flexion contracture, Long eyelashes, Hip contracture, Exaggera... |
OMIM:617301 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response |
OMIM:618056 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Scarring... |
OMIM:614437 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exagge... |
OMIM:253800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Ataxia, Broad-based gait, Exaggerated startle response, Dystonia, Abnormal pinna morphology |
ORPHA:438216 |
| Jung Syndrome |
|
Tracheal stenosis |
ORPHA:2321 |
| Sweet Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,... |
ORPHA:3243 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Contractures of the large joints, Low-set, posteriorly rotated ears, Sensorineural... |
ORPHA:521426 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... |
ORPHA:171929 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Pill-rolling tremor, Elbow flexion contracture, EEG wi... |
ORPHA:79139 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Hyperekplexia 2 |
|
Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
| Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Umbilical hernia |
OMIM:149400 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Long eyelashes, Thick eyebrow, EEG abnormality, Exaggerated startle response, Macr... |
OMIM:617281 |
| Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
| Down Syndrome |
|
Neutrophilia, Conductive hearing impairment, Polycythemia, Umbilical hernia, Type II diabetes mel... |
ORPHA:870 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis |
OMIM:601427 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Conductive hearing impairment, Umbilical hernia, Recurrent otitis media, Microcytic... |
ORPHA:99843 |
| Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated st... |
OMIM:615574 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Peritonitis, Elevated circulating amyloid A concentrati... |
OMIM:249100 |
| Mend Syndrome |
|
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Elevated 8(9)-cholesten... |
ORPHA:401973 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Contractures of the large joints, Hirsutism, Exaggerated startle res... |
OMIM:617527 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
| Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis |
ORPHA:3348 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia, Opt... |
OMIM:260920 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Sinus bradycardia |
OMIM:619482 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Broad-based gait, Decreased circulating iron concentration, High anterior hairline, I... |
ORPHA:438213 |
| Hurler-Scheie Syndrome |
|
Tracheal stenosis |
OMIM:607015 |
| Vacterl/Vater Association |
|
Tracheal stenosis, Tracheoesophageal fistula |
ORPHA:887 |
| Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis |
ORPHA:1790 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis |
ORPHA:3301 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis |
OMIM:217980 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis |
ORPHA:93352 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis |
OMIM:302960 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis |
ORPHA:2637 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Nasal mucosa vasculitis |
OMIM:608710 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal stenosis |
ORPHA:79345 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Thick eyebrow, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Geleophysic Dysplasia 3 |
|
Tracheal stenosis |
OMIM:617809 |
| Igg4-Related Thyroid Disease |
|
Tracheal stenosis |
ORPHA:64744 |
| Cartilage-Hair Hypoplasia |
|
Tracheal stenosis |
ORPHA:175 |
| Holt-Oram Syndrome |
|
Abdominal situs inversus, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:142900 |
| Craniofacioskeletal Syndrome |
|
Tracheal stenosis |
OMIM:300712 |
| Geleophysic Dysplasia 1 |
|
Laryngotracheal stenosis, Tracheal stenosis |
OMIM:231050 |
| Larsen Syndrome |
|
Tracheal stenosis |
OMIM:150250 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Tracheal stenosis |
ORPHA:163979 |
| Smith-Lemli-Opitz Syndrome |
|
Tracheal stenosis |
ORPHA:818 |
| Frontometaphyseal Dysplasia 2 |
|
Tracheal stenosis |
OMIM:617137 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia |
OMIM:619522 |
| Fraser Syndrome |
|
Tracheal stenosis |
ORPHA:2052 |
| Hydrolethalus Syndrome 1 |
|
Tracheal stenosis |
OMIM:236680 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tracheal stenosis |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Tracheal stenosis |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tracheal stenosis |
ORPHA:261552 |
