| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
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 |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
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 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Limb dystonia, Hyperactivity, Tremor |
OMIM:620270 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
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 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Tremor |
OMIM:619470 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| 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 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Gait disturbance, Cholecystitis, Ataxia |
OMIM:250100 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Tremor |
OMIM:615924 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Ataxia, Jaundice |
OMIM:613470 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... |
OMIM:618718 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intermittent jau... |
ORPHA:97283 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l... |
ORPHA:100086 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Tremor, Aggressive behavior, Hyperactivity, Anorexia |
ORPHA:3077 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
| Rett Syndrome |
|
Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Cholecystitis, Stereotypical h... |
ORPHA:778 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... |
OMIM:617394 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Tako-Tsubo Cardiomyopathy |
|
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... |
ORPHA:66529 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Failure to thrive, Congestive heart failure, Cholecystitis, Splenomegaly, Prolong... |
OMIM:615512 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
| Q Fever |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegal... |
ORPHA:781 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Cholecystitis, Jaundice, Small for gesta... |
ORPHA:69665 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... |
OMIM:608643 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive |
ORPHA:349 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Gastrointestin... |
ORPHA:2869 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Hepatomegaly, Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... |
ORPHA:99827 |
| Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Agitation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Gait ataxia, Tip-toe gait, Cholecystitis |
ORPHA:309256 |
| Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholelithiasis, G... |
ORPHA:774 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... |
ORPHA:98908 |
| Metachromatic Leukodystrophy, Adult Form |
|
Difficulty walking, Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Progress... |
ORPHA:309271 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Obesity, Cholecystitis, Angina pectoris, Overweight, Hypertens... |
ORPHA:90041 |
| Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Hand tremor |
ORPHA:99819 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:611881 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepatomegaly, Mo... |
OMIM:301066 |
| Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Agitation, Hyperactivity, Hand tremor |
ORPHA:424 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Listeriosis |
|
Arteritis, Congestive heart failure, Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic ... |
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, Dystonia, Impulsivity |
OMIM:620423 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Cholecystitis |
ORPHA:309263 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| 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, Tremor, Aggressive behavior, Hyperactivity, Dystonia, Choreoathetosis |
OMIM:612716 |
| Vacterl/Vater Association |
|
Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| 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 |
|
Vasculitis, Hepatitis, Congestive heart failure, Cholecystitis, Arrhythmia, Myocarditis, Jaundice... |
ORPHA:2331 |
| Tay-Sachs Disease |
|
Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia, Dysphagia |
ORPHA:845 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Failure to thrive, Abdominal situs inversus, Ataxia |
ORPHA:280 |
| Igg4-Related Kidney Disease |
|
Arteritis, Decreased liver function, Abnormal mesentery morphology, Cholecystitis, Sclerosing cho... |
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, Liver abscess, Viral hepatitis |
ORPHA:183675 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response |
ORPHA:521426 |
| Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, 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 |
|
Stereotypical hand wringing, Dystonia, Dysphagia, Exaggerated startle response |
ORPHA:438213 |
