| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... |
OMIM:619274 |
| Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... |
ORPHA:324575 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Palpitations, Focal pancreatic islet hyperplasia, Fasting hypoglycemia, Hy... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... |
ORPHA:276580 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... |
ORPHA:276556 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... |
OMIM:610947 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Hypothyroidis... |
ORPHA:99886 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... |
ORPHA:45452 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Myocardial infarction, Hypertension |
OMIM:608320 |
| Peripartum Cardiomyopathy |
|
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... |
ORPHA:563 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... |
OMIM:613873 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Fraxe Intellectual Disability |
|
Clumsiness, Prominent ear helix, Recurrent hand flapping, Prominent nasal bridge, Stereotypical b... |
ORPHA:100973 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Decreased body weight, Pulmonic stenosi... |
OMIM:616201 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Mental Retardation, Autosomal Recessive 39 |
|
Anteverted ears, Macrotia, Stereotypy, Prominent nose |
OMIM:615541 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset ... |
ORPHA:71529 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... |
ORPHA:99105 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short nose |
ORPHA:2015 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Action tremor, Torticollis, Jerky head movements, Stereotypy, Involuntary movements |
ORPHA:98807 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
| Maxillonasal Dysplasia, Binder Type |
|
Short columella, Short nose, Large earlobe, Depressed nasal bridge |
OMIM:155050 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Insulin resistance, Hypertension, Hypertriglyceridemia, Myocardial infarcti... |
OMIM:615703 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism |
OMIM:613239 |
| Baker-Gordon Syndrome |
|
Short nose, Hyperkinetic movements, Ataxia, Prominent nasal tip, Stereotypy, Involuntary movement... |
OMIM:618218 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism |
OMIM:188580 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Stereotypy |
OMIM:606053 |
| Autism |
|
Stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
| Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
OMIM:236800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Short nose, Pneumonia, Low-set ears, Anteverted nares, Chronic bronchitis, Depressed nasal bridge |
OMIM:614069 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... |
ORPHA:26793 |
| Hyperthyroidism, Familial Gestational |
|
Increased circulating T4 level, Tachycardia, Decreased thyroid-stimulating hormone level, Hyperth... |
OMIM:603373 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Stereotypy, Prominent nasal bridge |
OMIM:609425 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Broad nasal tip, Stereotypy, Spasticity |
OMIM:617393 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... |
ORPHA:1329 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... |
ORPHA:300751 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... |
ORPHA:90064 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Ring Chromosome 8 Syndrome |
|
Round ear, Anteverted nares, Short nose |
ORPHA:1450 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Stereotypy |
OMIM:617270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Congestive heart failure,... |
OMIM:619048 |
| Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Palpitations, Ventricular arrhythmia, Reduced... |
ORPHA:217607 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... |
ORPHA:216694 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements, Macrotia |
ORPHA:397933 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Macrotia, Spastic tetraparesis, Short nose, Depressed nasal bridge |
ORPHA:438178 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Paragangliomas 3 |
|
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... |
OMIM:605373 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular hypertrophy, Arrhythmia, Cardiomyocyte hypertrophy, T-wave inversion, V... |
ORPHA:263297 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
| Paragangliomas 1 |
|
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... |
OMIM:168000 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... |
OMIM:212138 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... |
ORPHA:251282 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiomegaly, Elevated... |
OMIM:600649 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Short nose, Abnormality of the outer ear |
ORPHA:217340 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Vertigo, Ataxia |
ORPHA:71518 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| Developmental And Epileptic Encephalopathy 73 |
|
Hypertonia, Sensorineural hearing impairment, Short nose, Narrow nasal bridge |
OMIM:618379 |
| Pterygium Colli, Isolated |
|
Protruding ear, Short nose |
OMIM:177990 |
| Double Outlet Right Ventricle |
|
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pu... |
ORPHA:3426 |
| Smith-Magenis syndrome |
|
Stereotypy |
DECIPHER:8 |
| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Depressed nasal bridge |
OMIM:616430 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Hy... |
OMIM:171420 |
| Pendred Syndrome |
|
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... |
ORPHA:705 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Adenylosuccinate Lyase Deficiency |
|
Low-set ears, Anteverted nares, Short nose |
ORPHA:46 |
| Myotonic Dystrophy 2 |
|
Palpitations, Hypogonadism, Tachycardia, Insulin insensitivity, Elevated circulating creatine kin... |
OMIM:602668 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... |
ORPHA:66529 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Stereotypy |
OMIM:617830 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Short nose, Underdeveloped nasal alae, Macrotia, Ataxia, Stereotypy, Prominent nasal bridge, Ante... |
OMIM:300912 |
| N-Acetylaspartate Deficiency |
|
Truncal ataxia, Stereotypy |
OMIM:614063 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect |
OMIM:613870 |
| Deafness, X-Linked 2 |
|
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... |
OMIM:304400 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Ataxia |
OMIM:618709 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip, Stereotypy, Speech apraxia |
OMIM:613670 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... |
OMIM:618782 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Naxos Disease |
|
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... |
ORPHA:34217 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... |
OMIM:608751 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Progressive spastic quadriplegia, Short nose |
OMIM:200130 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Broad nasal tip, Spasticity |
ORPHA:500545 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Short nose, Posteriorly rotated ears, Low-set ears, Depressed nasal ridge, Anteverted nares |
ORPHA:1832 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Low-set ears, Myoclonus, Stereotypy, L... |
OMIM:619092 |
| Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy, Broad nasal tip |
OMIM:615637 |
| Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Prominent nasal bridge, Short nose, Wide nasal bridge |
ORPHA:1200 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
| Episodic Ataxia Type 4 |
|
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls |
ORPHA:79136 |
| Hyperthyroidism, Nonautoimmune |
|
Goiter, Tachycardia, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism |
OMIM:609152 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... |
OMIM:300952 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... |
OMIM:604169 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Ventricular extrasystoles, Tachycardia, Syncope |
OMIM:192445 |
| Jaberi-Elahi Syndrome |
|
Tremor, Gait ataxia, Short nose, Low-set ears, Protruding ear, Depressed nasal bridge, Dysmetria,... |
OMIM:617988 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Macrotia, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Recurrent respiratory... |
OMIM:617695 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Hypopituitarism... |
ORPHA:449285 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... |
ORPHA:79299 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Hypotension, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Wide nasal bridge, Low-set ears, Stereotypy, Prominent nose |
OMIM:618205 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... |
ORPHA:49827 |
| Non-Distal Trisomy 10Q |
|
Low-set, posteriorly rotated ears, Convex nasal ridge, Short nose, Depressed nasal bridge |
ORPHA:1695 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy |
OMIM:619150 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... |
OMIM:145600 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Hypertonia, Anosmia, Morphological abnormality of the vesti... |
OMIM:611584 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:617222 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Sudden cardiac death, Delayed puberty, Tachycardia, Elevate... |
OMIM:614921 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Short nose, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Anteverted ... |
OMIM:614744 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... |
ORPHA:263458 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Pro... |
OMIM:613327 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Short nose |
OMIM:122880 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Hypertonia, Protruding ear, Short nose, Recurrent pneumonia |
ORPHA:1495 |
| Mody |
|
Abnormal oral glucose tolerance, Overweight, Hyperinsulinemic hypoglycemia, Glucose intolerance, ... |
ORPHA:552 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... |
ORPHA:137675 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Bulbous nose, Myoclonus, Stereotypy, Broad nasal tip, Prominent ear helix, Prominent nasal bridge... |
ORPHA:411986 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hypertonia, Wide nasal bridge, Prominent nasal tip, Low-set ears, Stereotypy, Repetitive compulsi... |
ORPHA:352490 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Tachycardia, Failure to thrive in infancy, Abnormal circ... |
ORPHA:264675 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Bulbous nose, Macrotia, Recurrent hand flapping, Anteverted nares, Depressed nasal bridge |
OMIM:617268 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short nose, Macrotia |
OMIM:300558 |
| Timothy Syndrome |
|
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Cardiomegaly, Prolonged QT... |
OMIM:601005 |
| Mental Retardation, Autosomal Dominant 20 |
|
Low-set ears, Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:613443 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Hyperprolinemia, Type I |
|
Stereotypy, Ataxia |
OMIM:239500 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Short nose, Stereotypy |
ORPHA:85277 |
| Mental Retardation, Autosomal Dominant 48 |
|
Anteverted nares, Abnormality of the pinna, Low-set ears, Sensorineural hearing impairment, Stere... |
OMIM:617751 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Hypoalbumine... |
ORPHA:75565 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... |
OMIM:246700 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Prominent antihelix, Underdeveloped nasal alae, Stereotypy, Anteverted nares, Low hanging columel... |
OMIM:618825 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycem... |
ORPHA:159 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... |
ORPHA:411593 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Tachycardia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... |
OMIM:601419 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... |
ORPHA:66628 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Anosmia, Hearing impairment, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:261120 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Macrotia, Abnormal pyramidal sign, Low-set ears, Spastic tetraplegia |
OMIM:615419 |
| Branchiootic Syndrome 1 |
|
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... |
OMIM:602588 |
| Diabetes Insipidus, Neurohypophyseal |
|
Short nose, Wide nose |
OMIM:125700 |
| Xq28 (MECP2) duplication |
|
Gait ataxia, Macrotia, Stereotypy, Progressive spasticity, Recurrent respiratory infections, Depr... |
DECIPHER:45 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Hypertension, Insulin resistance |
ORPHA:79084 |
| Atrial Standstill 2 |
|
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... |
OMIM:615745 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Short nose, Protruding ear, Bulbous nose |
OMIM:613458 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Microtia |
OMIM:613603 |
| Mental Retardation, X-Linked 91 |
|
Short nose |
OMIM:300577 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Short nose, Ataxia |
ORPHA:531 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Coronary artery stenosis, Hypertension, Myocardial infarction, Truncal obes... |
OMIM:615812 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... |
ORPHA:179494 |
| Peho-Like Syndrome |
|
Short nose, Myoclonus |
OMIM:617507 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper res... |
ORPHA:391372 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Short nose, Hyperkinetic movements, Low-set ears, Hearing impairment, Babinski sign... |
OMIM:616420 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Sensorineural hearing impairment, Depressed nasal ridge, Aplasia/Hypoplasia involving... |
ORPHA:1529 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Bulbous nose, Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spas... |
ORPHA:280763 |
| Acquired Methemoglobinemia |
|
Palpitations, Arrhythmia, Tachycardia, Syncope |
ORPHA:464453 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Cochlear degeneration, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:2370 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Recurrent hand flapping, Spasticity |
OMIM:618859 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormality of the antihelix, Short nose, Absent tragus, Overfolded helix, Large earlobe, Conduct... |
ORPHA:79113 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Short nose, Low-set ears, Depressed nasal bridge |
OMIM:616910 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... |
ORPHA:157941 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Low-set ears, Abnormality of the pinna, Short nose, Broad nasal tip |
OMIM:613544 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... |
ORPHA:368 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Right ventricular hypertrophy, Left ventricular hypertrophy, Internal hemorrhage |
ORPHA:335 |
| 17P13.3 Microduplication Syndrome |
|
Low-set ears, Short nose, Wide nose |
ORPHA:217385 |
| Mental Retardation, Autosomal Dominant 7 |
|
Thickened helices, Incoordination, Bulbous nose, Macrotia, Abnormality of the pinna, Ataxia, Ster... |
OMIM:614104 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose, Stereotypy |
ORPHA:228384 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormality of the antihelix, Short nose, Bulbous nose, Protruding ear, Stereotypy, Depressed nas... |
ORPHA:261144 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short nose, Hypertonia, Spastic tetraparesis, Short columella, Laryngomalacia, Low-set ears, Ante... |
ORPHA:171839 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... |
OMIM:163800 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Tremor, Short nose, Macrotia, Wide nasal bridge, Limb tremor |
OMIM:218000 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Tics, Hypertonia, Broad columella, Depressed nasal bridge |
OMIM:617865 |
| Pierpont Syndrome |
|
Short nose, Hypertonia, Posteriorly rotated ears, Hearing impairment, Broad nasal tip, Large fles... |
OMIM:602342 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia... |
ORPHA:485405 |
| Tetanus |
|
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Macrotia |
OMIM:617061 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... |
ORPHA:542323 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Pheochromocytoma |
|
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Hy... |
OMIM:171300 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea |
OMIM:618760 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Hypertension, Insulin-resistant diabetes mell... |
OMIM:604367 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| Cebalid Syndrome |
|
Short nose, Abnormality of the pinna, Posteriorly rotated ears, Low-set ears, Hearing impairment,... |
OMIM:618774 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Bulbous nose, Recurrent hand flapping, Prominent nose |
OMIM:618916 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Premature pubarche, Hypothyroidism, Hypoglycemia, Ventricular tachycardia, Ve... |
OMIM:616878 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... |
OMIM:618620 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia |
OMIM:616834 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Tremor, Stereotypy, Spasticity |
OMIM:618718 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Eleva... |
ORPHA:439232 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Hearing impairment, Short nose, Wide nasal bridge |
OMIM:614078 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
| Insulinoma |
|
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm... |
ORPHA:97279 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Thickened helices, Short nose, Bulbous nose, Hypertonia, Hearing impairment, Prominent nasal brid... |
OMIM:618828 |
| Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progressive gait ... |
ORPHA:157946 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, Lo... |
OMIM:300209 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Failure to thrive |
OMIM:606528 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... |
ORPHA:71526 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Stereotypical hand wringing, Short nose, Hypertonia, Myoclonus |
ORPHA:289266 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking |
OMIM:204000 |
| Spinocerebellar Ataxia With Dysmorphism |
|
Short nose, Anteverted nares, Babinski sign, Ataxia |
OMIM:271270 |
| Perlman Syndrome |
|
Thickened helices, Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Antever... |
ORPHA:2849 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Short nose, Depressed nasal bridge |
OMIM:617802 |
| Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Macrotia, Abnormality of the nose, Stereotypy |
ORPHA:85278 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene... |
OMIM:261740 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... |
OMIM:102200 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose, Anteverted ears, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity |
OMIM:618087 |
| Gms Syndrome |
|
Low-set ears, Short nose, Microtia, Depressed nasal bridge |
OMIM:138770 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... |
ORPHA:528 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity |
OMIM:618917 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short nose, Underdeveloped nasal alae, Overfolded helix, Macrotia, Hypertonia, Posteriorly rotate... |
ORPHA:2083 |
| Mercury Poisoning |
|
Hypotension, Hypokalemia, Tachycardia, Hypertension |
ORPHA:330021 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose, Spasticity |
ORPHA:2429 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Rigidity, Myoclonus, Stereotypy |
OMIM:600795 |
| Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hearing impairment, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short nose, Bulbous nose, Posteriorly rotated ears, Low-set ears, Hearing impairment |
OMIM:613604 |
| Edinburgh Malformation Syndrome |
|
Short nose, Hypertonia, Choanal atresia, Low-set ears, Anteverted nares |
ORPHA:1895 |
| Ocular Motor Apraxia |
|
Jerky head movements, Oculomotor apraxia |
OMIM:257550 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Macrotia, Anteverted ears, Poor coordination, Ataxia, Recurrent hand flapping |
ORPHA:544254 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Pulmonary fibrosis, Upper limb spasticity, Macrotia, Hyperkinetic movements, Stereotypy |
ORPHA:457240 |
| Coffin-Siris Syndrome 6 |
|
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Stereotypy, Broad nasal t... |
OMIM:617808 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Hypertonia, Spasticity, Abnormality of the pinna, Low-set ears, Wide nose, Depressed ... |
OMIM:613457 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... |
OMIM:147630 |
| Distal Monosomy 10Q |
|
Short nose, Cochlear malformation, Poor fine motor coordination, Oculomotor apraxia, Ataxia, Wide... |
ORPHA:96148 |
| Stiff-Person Syndrome |
|
Diabetes mellitus, Tachycardia, Hypertension |
OMIM:184850 |
| Paragangliomas 4 |
|
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... |
OMIM:115310 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia |
ORPHA:90036 |
| Relapsing Fever |
|
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... |
ORPHA:91547 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Spastic paraparesis, Anosmia, Ataxia, Absent brainstem audi... |
OMIM:609136 |
| Hereditary Coproporphyria |
|
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Recurrent respiratory infections, Short nose |
ORPHA:1389 |
| Dermotrichic Syndrome |
|
Macrotia, Short nose, Depressed nasal bridge |
ORPHA:99688 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Low-set ears, Hearing impairment, Stereotypy, Depressed nasal bridge |
ORPHA:238750 |
| Malignant Hyperthermia Of Anesthesia |
|
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Card... |
ORPHA:423 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Profound hearing impairment, Short nose, Recurrent upper respiratory tract infections, Macrotia, ... |
ORPHA:3078 |
| Scorpion Envenomation |
|
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... |
ORPHA:466677 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Short nose, Macrotia |
OMIM:617991 |
| Atypical Rett Syndrome |
|
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... |
ORPHA:3095 |
| Eisenmenger Syndrome |
|
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... |
ORPHA:97214 |
| Squalene Synthase Deficiency |
|
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... |
OMIM:618156 |
| Carney Triad |
|
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ... |
ORPHA:139411 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Palpitations, Abnorma... |
ORPHA:1501 |
| Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Choreoathetosis |
OMIM:619317 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Stereotypy, Macrotia |
OMIM:618504 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Spastic tetraparesis, Ataxia, Hemiplegia/hemiparesis, Spasticity |
ORPHA:833 |
| Apert Syndrome |
|
Convex nasal ridge, Conductive hearing impairment, Choanal atresia, Sensorineural hearing impairm... |
ORPHA:87 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Neonatal hyperbilirubin... |
ORPHA:348 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short nose, Spastic tetraparesis, Low-set ears, Hearing impairment, Myoclonus, Wide nose |
OMIM:614261 |
| Foxg1 Syndrome |
|
Hyperkinetic movements, Myoclonus, Stereotypy, Stereotypical hand wringing, Choreoathetosis, Spas... |
ORPHA:561854 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Wide nasal bridge, Stereotypy, Broad nasal tip, An... |
OMIM:615873 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
| Al-Raqad Syndrome |
|
Low-set ears, Short nose |
OMIM:616459 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Absent nasal bridge, Bulbous nose, Short nose, Tics, Chronic otitis media, Abnormality of the pin... |
ORPHA:261211 |
| Romano-Ward Syndrome |
|
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... |
ORPHA:101016 |
| Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Abnormality of the larynx, Abnormality of the outer ... |
OMIM:182290 |
| Potocki-Shaffer Syndrome |
|
Short nose, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:601224 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Short nose, Large earlobe, Hypertonia, Opisthotonus, Spastic tetraplegia, Myoclonus, Wide nose, S... |
OMIM:615851 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia |
OMIM:245348 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Broad nasal tip, Anteverte... |
OMIM:618529 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Myocardial infarct... |
ORPHA:330001 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Short nose, Underdeveloped nasal alae, Hypertonia, Wide nasal bridge, Spasticity |
OMIM:615803 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... |
ORPHA:1055 |
| Maxillonasal Dysplasia |
|
Short nose, Short columella, Abnormality of the nares, Depressed nasal ridge, Depressed nasal bridge |
ORPHA:1248 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:251274 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Chore... |
ORPHA:382 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Abnormality of the antihelix, Short nose, Aplasia/Hypoplasia of the lungs, Mi... |
ORPHA:2145 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Chorea, Stereotypy, Spasticity |
ORPHA:88616 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hypotension, Hyponatremia, Small for gestational age, Shock, Hyperglyc... |
ORPHA:391673 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... |
ORPHA:71212 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Hypertonia, Protruding ... |
ORPHA:2031 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Hypothyroidism, Hypocholesterolemia, Small for gestational age, Failure to ... |
OMIM:610883 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short nose, Macrotia, Low-set, posteriorly rotated ears, Hearing impairment, Anteverted nares |
ORPHA:2701 |
| Hyperaldosteronism, Familial, Type I |
|
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... |
OMIM:103900 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Recurrent otitis media, Sensorineural hearing impairment, Tracheobronchomalacia... |
ORPHA:500159 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Short nose, Depressed nasal ridge |
OMIM:613885 |
| Fetal Trimethadione Syndrome |
|
Short nose, Overfolded helix, Low-set ears, Abnormality of the helix, Depressed nasal bridge |
ORPHA:1913 |
| Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
| Vitamin K Antagonist Embryofetopathy |
|
Short nose, Choanal atresia, Hearing impairment, Anteverted nares, Microtia, Depressed nasal bridge |
ORPHA:1914 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, ... |
OMIM:616331 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
| Cholera |
|
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Hypokale... |
ORPHA:173 |
| Macrocephaly-Developmental Delay Syndrome |
|
Wide nasal bridge, Abnormal speech discrimination, Stereotypy, Recurrent pneumonia |
ORPHA:397612 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Fasciculations, Upper motor neuron dysfunction, Stereotypy, Abnormality of extrapyramidal motor f... |
ORPHA:275864 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Elevated circulating creatine... |
ORPHA:94093 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Macrotia, Stereotypy, Prominent nose |
ORPHA:391307 |
| Codas Syndrome |
|
Short nose, Overfolded helix, Crumpled ear, Abnormality of the larynx, Sensorineural hearing impa... |
ORPHA:1458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Prominent nasal bridge, Anteverted nares, Macrotia, Chorea, Ataxia, Wide nasal bridge, Low-set ea... |
OMIM:300260 |
| Mental Retardation, Autosomal Dominant 40 |
|
Low-set ears, Gait ataxia, Recurrent respiratory infections, Stereotypy |
OMIM:616579 |
| Cocaine Intoxication |
|
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... |
ORPHA:90068 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia |
OMIM:229700 |
| Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 level, Neonatal hyperbilirubinemia, Bradycardia, Elevated circulating th... |
ORPHA:95717 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Abnormal pyramidal sign, Ataxia, Hearing impairment, Spastic tetraplegia |
OMIM:256600 |
| Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Short nose |
OMIM:300887 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Short nose, Poor coordination, Spasticity, Ataxia, Posteriorly rotated ears, Low-se... |
OMIM:618430 |
| Mental Retardation, Autosomal Dominant 1 |
|
Short nose, Bulbous nose, Abnormality of the pinna, Ataxia, Abnormality of the outer ear, Low-set... |
OMIM:156200 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Short nasal bridge, Hearing impairment, Protruding ear, Abnormality of the heli... |
ORPHA:401777 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Pituitary Hormone Deficiency, Combined, 1 |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:613038 |
| Distal Trisomy 18Q |
|
Short nose, Anteverted nares, Low-set, posteriorly rotated ears, Choanal atresia, Prominent nasal... |
ORPHA:1716 |
| Gitelman Syndrome |
|
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Delayed pu... |
OMIM:263800 |
| Ohdo Syndrome |
|
Short nose, Wide nasal bridge, Hearing impairment, Stenosis of the external auditory canal, Antev... |
OMIM:249620 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... |
ORPHA:247815 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Weight loss, Hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Re... |
ORPHA:2126 |
| Mental Retardation, Autosomal Dominant 34 |
|
Hearing impairment, Anteverted nares, Stereotypy |
OMIM:616351 |
| Acromicric Dysplasia |
|
Short nose, Anteverted nares, Bulbous nose |
ORPHA:969 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Ventricular arrhythmia, Palpitations, Syncope, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
| Coffin-Siris Syndrome 9 |
|
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Abnormality of the nares, Po... |
OMIM:615866 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Short nose, Depressed nasal bridge |
OMIM:614732 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... |
ORPHA:542306 |
| Bainbridge-Ropers Syndrome |
|
Prominent nasal bridge, Anteverted nares, Short nose, Broad nasal tip |
OMIM:615485 |
| Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Wide nasal bridge, Babinski sign, Anteverted nares, Spasticity |
OMIM:618437 |
| Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Small for gestational age, Tachycardia, Elevated circulating ... |
ORPHA:90051 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... |
ORPHA:31826 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short nose, Macrotia, Hypertonia, Wide nasal bridge, Hearing impairment, Sensorineural hearing im... |
OMIM:300749 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Raynaud phenomenon, Syncope |
OMIM:616260 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypok... |
ORPHA:320 |
| Porphyria Variegata |
|
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration, Inappropri... |
ORPHA:79473 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... |
ORPHA:79237 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... |
ORPHA:95716 |
| Alazami Syndrome |
|
Stereotypical hand wringing, Low-set ears, Stereotypy, Wide nose |
ORPHA:319671 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Atrial septal defect, Decreased circulating follicle stimulating hormone concentration, Hyperinsu... |
OMIM:619326 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Failure to thrive, Brady... |
OMIM:614407 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:35878 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... |
ORPHA:36234 |
| Glutamine Deficiency, Congenital |
|
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Recurrent respiratory infections, ... |
OMIM:610015 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Short nose |
OMIM:300143 |
| Radio-Tartaglia Syndrome |
|
Tremor, Bulbous nose, Anteverted nares, Conductive hearing impairment, Ataxia, Wide nasal bridge,... |
OMIM:619312 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Insulin resistance |
ORPHA:363400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradycardia, Cardi... |
OMIM:609286 |
| Clark-Baraitser Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617752 |
| Weiss-Kruszka Syndrome |
|
Short nose, Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of he... |
OMIM:618619 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia |
ORPHA:2547 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Narrow nasal ridge, Recurrent bronchitis, Underdeveloped nasal alae, Wide nasal bridge, Posterior... |
OMIM:619293 |
| Shukla-Vernon Syndrome |
|
Wide nasal base, Stereotypy |
OMIM:301029 |
| Gomez-Lopez-Hernandez Syndrome |
|
Short nose, Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Anteverted nares |
OMIM:601853 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Abnormal cardiovascular system physiology, Hypertension, Ab... |
ORPHA:79086 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... |
ORPHA:1880 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Spastic paraparesis, Bulbous nose, Short nose, Macrotia, Ataxia, Wide nasal bridg... |
ORPHA:369891 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Short nose, Thick nasal alae, Low-set ears |
ORPHA:163961 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... |
OMIM:223900 |
| Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Bulbous nose, Stereotypy, Wide nasal bridge |
OMIM:613174 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... |
OMIM:203800 |
| Ogden Syndrome |
|
Enlarged naris, Underdeveloped nasal alae, Macrotia, Hypertonia, Short columella, Low-set ears, T... |
ORPHA:276432 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short nose, Low-set, posteriorly rotated ears, Attached earlobe, Anteverted nares, Microtia, Depr... |
ORPHA:1327 |
| Rett Syndrome, Congenital Variant |
|
Apraxia, Bulbous nose, Chorea, Protruding ear, Depressed nasal bridge, Tongue thrusting, Stereoty... |
OMIM:613454 |
| 22Q11.2 Duplication Syndrome |
|
Hearing impairment, Stereotypy, Depressed nasal ridge, Anterior creases of earlobe, Wide nose, Ab... |
ORPHA:1727 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short nose, Low-set ears, Depressed nasal bridge, Anteverted nares, Microtia, Wide nose |
OMIM:613320 |
| Harel-Yoon Syndrome |
|
Short nose, Ataxia, Spasticity |
OMIM:617183 |
| Serotonin Syndrome |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:43116 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... |
ORPHA:3384 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Abnormal heart morphology, Pulmonary arterial hypertension, Tricuspid regur... |
ORPHA:505248 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Adenylosuccinase Deficiency |
|
Gait ataxia, Short nose, Low-set ears, Opisthotonus, Myoclonus, Anteverted nares, Spasticity |
OMIM:103050 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
| Renal Nutcracker Syndrome |
|
Weight loss, Tachycardia, Orthostatic hypotension, Syncope |
ORPHA:71273 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... |
ORPHA:231625 |
| Ogden Syndrome |
|
Atrial septal defect, Arrhythmia, Ventricular septal defect, Ventricular extrasystoles, Ventricul... |
OMIM:300855 |
| Autosomal Recessive Omodysplasia |
|
Short nose, Posteriorly rotated ears, Low-set ears, Anteverted nares, Depressed nasal bridge |
ORPHA:93329 |
| Fragile X Syndrome |
|
Abnormal head movements, Macrotia |
OMIM:300624 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Gait ataxia, Abnormality of the pinna, Stereotypy, Spasticity |
OMIM:617807 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Bradycardia |
OMIM:614653 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short nose, Bronchiectasis, Pneumonia, Low-set ears, Sinusitis, Anteverted nares, Chronic bronchi... |
OMIM:242860 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Short nose, Speech apraxia, Low-set ears, Aspiration pneumonia, Myoclonus, Recurrent pneumonia, A... |
ORPHA:314655 |
| Lamb-Shaffer Syndrome |
|
Stereotypy, Broad nasal tip, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Short nose |
ORPHA:90653 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Anteverted nares, Short nose, Broad nasal tip |
OMIM:137550 |
| Bainbridge-Ropers Syndrome |
|
Bulbous nose, Underdeveloped nasal alae, Hypertonia, Recurrent hand flapping, Long nose, Prominen... |
ORPHA:352577 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Bulbous nose, Choanal atresia, Posteriorly rotated ears, Hearing impairment, Depresse... |
ORPHA:284169 |
| Chromosome 3Q29 Duplication Syndrome |
|
Short nose, Bulbous nose, Wide nasal bridge |
OMIM:611936 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Stereotypy, Broad nasal tip |
ORPHA:3306 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Short nose, Depressed nasal bridge |
ORPHA:2143 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
| Distal Monosomy 9P |
|
Abnormality of the antihelix, Short nose, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia o... |
ORPHA:1642 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Small for gestational age, Elevated circulating ... |
OMIM:618775 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Spastic tetraparesis, Wide nasal bridge, Recurrent pneumonia, Stereotypical hand wrin... |
OMIM:619179 |
| Long Qt Syndrome 9 |
|
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... |
ORPHA:2298 |
| Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose |
ORPHA:932 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy |
OMIM:618906 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... |
ORPHA:99104 |
| Warburg Micro Syndrome 2 |
|
Asymmetry of the ears, Short nose, Macrotia, Spastic diplegia, Prominent nasal bridge |
OMIM:614225 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Short nose, Ankle clonus, Ataxia, Low-set ears, Babinski sign, Anteverted nares, Depressed nasal ... |
OMIM:615398 |
| Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Short nose, Hypertonia, Spasticity, Sensorineural hearing impairment, Narrow nasal bridge |
ORPHA:544503 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose |
DECIPHER:52 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Tachycardia, Weight loss, Syncope |
ORPHA:98849 |
| Familial Dysautonomia |
|
Hypertension, Tachycardia, Hyponatremia, Orthostatic hypotension |
ORPHA:1764 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... |
OMIM:600309 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Severe sensorineural hearing impairment, Low-set, posteriorly rotated ears, Short nose, Microtia |
ORPHA:2983 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Short nose, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Sensor... |
ORPHA:2719 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... |
ORPHA:90674 |
| Non-Distal Trisomy 13Q |
|
Abnormality of the antihelix, Aplasia/Hypoplasia of the earlobes, Short nose |
ORPHA:1702 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hypertonia, Wide nasal bridge, Low-set ears, Lower limb spasticity, Protruding ear, Stereotypy, C... |
ORPHA:447997 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Narrow nasal bridge |
ORPHA:1514 |
| Even-Plus Syndrome |
|
Microtia, Short nose, Depressed nasal ridge, Bifid nasal tip |
OMIM:616854 |
| Axial Spondylometaphyseal Dysplasia |
|
Anteverted nares, Short nose |
ORPHA:168549 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short nose, Spastic paraparesis, Macrotia, Sensorineural hearing impairment, Anteverted nares, Wi... |
ORPHA:391408 |
| Fetal Hydantoin Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Abnormality of the pinna, Depressed nasal ridge, H... |
ORPHA:1912 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia, Tachycardia, Failure to thrive |
ORPHA:39812 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... |
OMIM:617877 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:618961 |
| Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose |
ORPHA:93298 |
| Bilateral Generalized Polymicrogyria |
|
Eyelid myoclonus, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Spasticity |
ORPHA:208447 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Short nose, Wide nasal bridge |
OMIM:618577 |
| 48,Xxyy Syndrome |
|
Tremor, Chronic otitis media, Ataxia, Stereotypy, Recurrent respiratory infections |
ORPHA:10 |
| Baraitser-Winter Syndrome 1 |
|
Short nose, Overfolded helix, Wide nasal bridge, Low-set ears, Sensorineural hearing impairment, ... |
OMIM:243310 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormality of the outer ear, Sensorineural hearing impairment, Depressed nasal bridge, S... |
ORPHA:435638 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Stereotypy |
OMIM:617044 |
| Cri-Du-Chat Syndrome |
|
