| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Gilles De La Tourette Syndrome |
|
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... |
OMIM:137580 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Gallbladder Disease 1 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... |
OMIM:600803 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:69663 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior |
OMIM:301107 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Limb dystonia, Aggressive behavior |
OMIM:620270 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... |
OMIM:616201 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... |
OMIM:604772 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran... |
ORPHA:131 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Metachromatic Leukodystrophy |
|
Ataxia, Cholecystitis, Gait disturbance, Gallbladder dysfunction |
OMIM:250100 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepa... |
ORPHA:65682 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Dystonia |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Ataxia, Splenomegaly, Pigment gallstones, Cholecystitis |
OMIM:613470 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l... |
OMIM:618718 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Somatostatinoma |
|
Anorexia, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbl... |
ORPHA:97283 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract obstruction, Intermittent jaundice, Biliary tract neoplasm, Weight loss, ... |
ORPHA:100086 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Aggressive behavior |
ORPHA:3077 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response |
ORPHA:309246 |
| Rett Syndrome |
|
Agitation, Difficulty walking, Inability to walk, Stereotypical hand wringing, Gait disturbance, ... |
ORPHA:778 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... |
OMIM:617394 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis |
OMIM:235700 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Jaundice, Cholelithiasis, Failure to thrive, Prolonged neonatal jaundic... |
OMIM:615512 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis |
OMIM:266200 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa... |
OMIM:620367 |
| Q Fever |
|
Myocarditis, Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vas... |
ORPHA:781 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Cholecystitis, Small for gesta... |
ORPHA:69665 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... |
OMIM:608643 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Hepatomegaly |
ORPHA:349 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary tract neoplasm, Pancreatic a... |
ORPHA:2869 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse alveolar hemorrhage, Cho... |
ORPHA:99827 |
| Triploidy |
|
Abnormality of the gallbladder, Abnormality of the pancreas, Hepatomegaly |
ORPHA:3376 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Progressive gait ataxia, Cholecystitis, Gait ataxia |
ORPHA:309256 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole... |
ORPHA:774 |
| Neutral Lipid Storage Myopathy |
|
Congestive heart failure, Difficulty walking, Elevated circulating hepatic transaminase concentra... |
ORPHA:98908 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Metachromatic Leukodystrophy, Adult Form |
|
Difficulty walking, Orthostatic hypotension due to autonomic dysfunction, Progressive gait ataxia... |
ORPHA:309271 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Hypovolemia, Obesity, Overweigh... |
ORPHA:90041 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Glycogen Storage Disease Xii |
|
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:611881 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Obesity, Hepatosplenomegaly, Motor stereotypy, Cholecystitis, Aggre... |
OMIM:301066 |
| Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Abnormal mesentery morphology |
ORPHA:2075 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Listeriosis |
|
Myocarditis, Congestive heart failure, Jaundice, Liver abscess, Arteritis, Splenic abscess, Peric... |
ORPHA:533 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia |
OMIM:620423 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis, Progressive gait ataxia |
ORPHA:309263 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Choreoathetosis, Aggressive behavior |
OMIM:612716 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Vacterl/Vater Association |
|
Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Kawasaki Disease |
|
Myocarditis, Congestive heart failure, Jaundice, Vasculitis, Pericarditis, Arrhythmia, Hepatitis,... |
ORPHA:2331 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Dystonia, Dysphagia, Laryngeal dystonia |
ORPHA:845 |
| Wolf-Hirschhorn Syndrome |
|
Failure to thrive, Abnormality of the gallbladder, Ataxia, Abdominal situs inversus |
ORPHA:280 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Pancreatitis, Sclerosing cholangitis, Arteritis, Pericarditis, Abnormal... |
ORPHA:449395 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Cholecystitis, Viral hepatitis, Liver abscess |
ORPHA:183675 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Smith-Lemli-Opitz Syndrome |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Abnormality of the gallbladder |
ORPHA:818 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Exaggerated startle response |
OMIM:617527 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing |
ORPHA:438213 |
