Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... |
OMIM:619565 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Cln3 Disease |
|
Cataract, Ataxia, Aggressive behavior, Mental deterioration, Depression, Bradykinesia, T-wave inv... |
ORPHA:228346 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... |
OMIM:212138 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Diabetes mellitus, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia,... |
OMIM:609286 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemi... |
ORPHA:276608 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Dysphagia |
OMIM:620265 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Atrioventricular block, Truncal ataxia, Glucose intolerance, Bradycar... |
OMIM:614407 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palp... |
ORPHA:276580 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D... |
OMIM:128100 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Attention ... |
ORPHA:216866 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Syncope, Agita... |
ORPHA:276556 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dysphagia, Dystonia, Mental deterioration, Abnormal posturing |
OMIM:304700 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palpitations, Fasting h... |
ORPHA:276575 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Hypoglycemia, Bradycardia |
OMIM:619048 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Dystonia |
OMIM:616277 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Depression, Bradykinesia, Dementia, Gait disturbance, Cogni... |
ORPHA:157941 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Corneal opacity, Ataxia |
ORPHA:1532 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia, Dystonia |
OMIM:614702 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Depression |
OMIM:602079 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Dystonia |
OMIM:616299 |
Tetanus |
|
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, M... |
ORPHA:98818 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... |
OMIM:615516 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Dystonia |
OMIM:614654 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Short attention span, Dystonia, Gait ataxia, Titubation, Bradykinesia, Gait distu... |
ORPHA:225147 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Mucolipidosis Iv |
|
Progressive neurologic deterioration, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... |
OMIM:152950 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Dystonia, Hypertrophic cardio... |
OMIM:617183 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Hypertension, Agitation, Low frustration toleranc... |
OMIM:612469 |
D-Glyceric Aciduria |
|
Tongue thrusting, Hypoglycemia, Bradycardia, Opisthotonus |
OMIM:220120 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Opisthotonus |
OMIM:619814 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Faci... |
OMIM:620141 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia |
ORPHA:221098 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cognitive impairment |
ORPHA:577 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... |
ORPHA:411515 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Progressive psychomotor dete... |
ORPHA:363400 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Ataxia, Confusion, Depression |
ORPHA:309288 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Abnormal glucose homeostasis, Lethargy, Hyperglycemia |
ORPHA:391673 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Tip-toe gait, Bradycardia, Loss of ambulation, Neonatal hypoglycemia |
ORPHA:565624 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, R... |
OMIM:256800 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Glycosuria, Agitatio... |
ORPHA:263455 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Mental deterioration, Bradycardia |
ORPHA:83600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Insulin resistance, Hyperinsulinemia, Br... |
OMIM:613327 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp... |
ORPHA:79264 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:87876 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder |
ORPHA:281090 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Gait disturbance, Type I diabetes mellitus, Polydipsia, Abn... |
ORPHA:213 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Hypertension, Corneal opacity |
OMIM:166300 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia, Hypoglycemia, Lethargy |
OMIM:229700 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Hypertension, Agitation, Bradycardia,... |
ORPHA:94093 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... |
OMIM:617600 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression |
ORPHA:90674 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Opisthotonus |
OMIM:619272 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Hyperten... |
ORPHA:449291 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Tremor, Congestive heart failure, Unstea... |
ORPHA:354 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Hypertension |
OMIM:184850 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotensi... |
ORPHA:319213 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Tremor, Hypertension, Irritability, Agitation, Hypotension,... |
ORPHA:43116 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Tremor, Dysphagia, Bradycardia, Dystonia, Neonatal hypoglycemia |
OMIM:617248 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia, Antecubital pterygium |
ORPHA:40366 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Gait ataxia, Hypertrophic cardiomyopathy, Spastic gait |
ORPHA:496790 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia,... |
OMIM:610217 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Depression, Self-injurious behavior, Opacification of the corneal stroma, ... |
OMIM:601853 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Keratitis, Congestive heart failure, Tremor, Hypertension, Ir... |
ORPHA:525731 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Bradycardia, Difficulty walking, Dysphagia |
ORPHA:70 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un... |
ORPHA:35069 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia |
OMIM:610768 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Dysmetria, Dysphagia, Loss of ambulation |
ORPHA:93399 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Tremor, Gait disturbance |
ORPHA:812 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Type I diabetes mellitus |
ORPHA:290 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Dysmetria, Telangiectasia, Developmental cataract |
ORPHA:93400 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:61 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal... |
ORPHA:1764 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Dystonia |
ORPHA:357058 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypoglycemia, Confusion, Anorexia, Aggressive behavior, Hypovol... |
ORPHA:99826 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Internal hemor... |
ORPHA:99827 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Ataxia, Generalized dystonia, Aggressive behavior, Dilated cardiomyopathy,... |
OMIM:618321 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Bundle branch block, Hyperactivity, Cataract, Short attention span, First degree at... |
ORPHA:589821 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Lethargy |
OMIM:614857 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Depression, Kayser-Fleischer ring, Difficulty walking |
ORPHA:905 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Tremor, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Opacification of the corneal stroma |
OMIM:271630 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... |
ORPHA:563 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Aggressiv... |
ORPHA:581 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Heart murmur |
ORPHA:1867 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... |
ORPHA:43 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... |
ORPHA:163681 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Tremor, Me... |
ORPHA:247585 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retin... |
ORPHA:464 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... |
ORPHA:137596 |
Mucolipidosis Type Iv |
|
Gait disturbance, Corneal opacity, Ataxia |
ORPHA:578 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cognitive impairment |
ORPHA:1794 |
Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Progressi... |
ORPHA:580 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... |
ORPHA:239 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia |
ORPHA:91355 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Dystonia, Sinus bradycardia |
OMIM:618397 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Brad... |
OMIM:234200 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of t... |
ORPHA:2388 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, Cognitive impairment, Posterior embryotoxon |
ORPHA:912 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Astigmatism, Corneal opacity, Pulmonic stenosis |
OMIM:301056 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Torticollis |
ORPHA:71272 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Tremor, C... |
ORPHA:466677 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Aortic valve ... |
OMIM:253010 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Corneal opacity, Astigmatism, Gait disturbance, Attention deficit hyperacti... |
ORPHA:464311 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro... |
ORPHA:1830 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Short attention span, Cataract, Corneal opacity, Ataxia, Confusion, Depress... |
ORPHA:309282 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Astigmatism, Dysphagia, Sinus bradycardia |
OMIM:619482 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Progressive neurologic deterioration, Cardiomyopathy, Mitr... |
OMIM:607014 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Corneal opacity, Ataxia |
OMIM:272200 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Depression, Cardiomyopathy, Hypertension |
ORPHA:93473 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Vici Syndrome |
|
Cataract, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Developmental catara... |
OMIM:242840 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Impaired orophary... |
OMIM:615273 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Hypoglycemia, Bradycardia |
ORPHA:226307 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Cataract, Corneal opacity |
ORPHA:585 |
Mucopolysaccharidosis Type 4 |
|
Cognitive impairment, Corneal opacity, Gait disturbance |
ORPHA:582 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hyperactivity, Corneal opacity, Astigmatism, Gait disturbance, Aortic valve... |
ORPHA:464306 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratocon... |
ORPHA:495875 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Bohring-Opitz Syndrome |
|
Inability to walk, Bradycardia |
ORPHA:97297 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Short Qt Syndrome 3 |
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Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Microphthalmia With Brain And Digit Anomalies |
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Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
8Q21.11 Microdeletion Syndrome |
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Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Ataxia, Impulsivity, Tremor, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... |
ORPHA:442835 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant... |
OMIM:612582 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Bradycardia |
OMIM:218700 |
Legius Syndrome |
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Short attention span, Hyperactivity, Cataract, Dystonia, Paroxysmal atrial tachycardia, Pulmonic ... |
ORPHA:137605 |
Tbck-Related Intellectual Disability Syndrome |
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Cognitive impairment, Inability to walk, Corneal opacity, Pulmonic stenosis |
ORPHA:488632 |
Lcat Deficiency |
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Corneal opacity |
ORPHA:650 |
Mucopolysaccharidosis, Type Vi |
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Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... |
OMIM:253200 |
Focal Dermal Hypoplasia |
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Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Cognitive im... |
ORPHA:2092 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Rodrigues Blindness |
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Microcornea, Sclerocornea |
OMIM:268320 |
Neurofibromatosis Type 1 |
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Cataract, Corneal opacity, Ataxia, Hypertension, Attention deficit hyperactivity disorder, Lisch ... |
ORPHA:636 |
Microphthalmia, Syndromic 16 |
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Sclerocornea |
OMIM:611038 |
Williams Syndrome |
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Myocardial infarction, Tremor, Dysmetria, Compulsive behaviors, Megalocornea, Ataxia, Sudden card... |
ORPHA:904 |
De Barsy Syndrome |
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Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia |
ORPHA:2962 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
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Opacification of the corneal stroma |
OMIM:204850 |
Tangier Disease |
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Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Farber Disease |
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Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Ophthalmomandibulomelic Dysplasia |
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Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Oculoauricular Syndrome |
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Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... |
OMIM:309801 |
Dyschondrosteosis-Nephritis Syndrome |
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Corneal opacity |
ORPHA:1765 |
Oculoectodermal Syndrome |
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Hyperactivity, Transient ischemic attack, Microcornea, Astigmatism, Opacification of the corneal ... |
OMIM:600268 |
Gaucher Disease |
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Ataxia, Corneal opacity, Tremor, Depression, Dysphagia, Pulmonary arterial hypertension |
ORPHA:355 |
Schimke Immunoosseous Dysplasia |
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Waddling gait, Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacifica... |
OMIM:242900 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Tachycardia |
OMIM:609152 |
Wilson Disease |
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Dystonia, Tremor, Hand tremor, Dysphagia, Kayser-Fleischer ring, Glycosuria, Dementia, Limb dystonia |
OMIM:277900 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Mucopolysaccharidosis, Type Vii |
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Cardiomyopathy, Corneal opacity |
OMIM:253220 |
Mucopolysaccharidosis Type 1 |
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Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity |
ORPHA:579 |
Yellow Fever |
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Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Oculocerebrorenal Syndrome Of Lowe |
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Cataract, Corneal opacity, Abnormal pupil morphology, Depression, Buphthalmos, Self-injurious beh... |
ORPHA:534 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Peripheral opacification of the cornea, Corneal opacity, Gait disturbance |
OMIM:259600 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Short attention span, Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Cognitive impa... |
ORPHA:217093 |
Al-Gazali Syndrome |
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Corneal opacity, Sclerocornea |
OMIM:609465 |
Moebius Syndrome |
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Corneal opacity, Dysphagia |
ORPHA:570 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Corneal opacity |
OMIM:163200 |
Coloboma, Ocular, Autosomal Dominant |
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Corneal opacity, Peters anomaly |
OMIM:120200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Mucopolysaccharidosis Type 2, Severe Form |
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Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Cognitive impairment, Mental deterio... |
ORPHA:217085 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Pseudo-Torch Syndrome 1 |
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Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Opacification of the corneal stroma |
OMIM:601356 |
Mucopolysaccharidosis Type 7 |
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Corneal opacity |
ORPHA:584 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... |
ORPHA:740 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Broad-based gait, Corneal opacity, Limb ataxia, Abnormal temper... |
ORPHA:2072 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Unilateral Polymicrogyria |
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Pseudobulbar paralysis, Epistaxis, Abnormal posturing |
ORPHA:268943 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Short attention span, Impulsivity, Corneal scarring, Syncope, Abnorma... |
ORPHA:642 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo... |
ORPHA:536471 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... |
ORPHA:353281 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral regurgitat... |
ORPHA:2556 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Dysphagia, Loss o... |
OMIM:214100 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Cataract, Brushfield spots, Heart murmur, Athetosi... |
OMIM:614866 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Infantile Nephropathic Cystinosis |
|
Corneal crystals, Abnormal cornea morphology, Cognitive impairment, Glycosuria, Polydipsia |
ORPHA:411629 |
Carpenter Syndrome 1 |
|
Microcornea, Pulmonic stenosis, Opacification of the corneal stroma |
OMIM:201000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:1052 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Cockayne Syndrome A |
|
Cataract, Ataxia, Tremor, Hypertension, Dementia, Gait disturbance, Opacification of the corneal ... |
OMIM:216400 |
Mucopolysaccharidosis Type 6 |
|
Cognitive impairment, Opacification of the corneal stroma |
ORPHA:583 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Corneal opacity, Ataxia, Cerebral hemorrhage, Gait disturbance, Dysphagia, ... |
ORPHA:666 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Ataxia, Keratitis, Telangiecta... |
ORPHA:910 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Ataxia, Hypoplasia of the iris, Opacification of the corneal stroma, Dystonia |
OMIM:251300 |
Cockayne Syndrome B |
|
Ataxia, Tremor, Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacif... |
OMIM:133540 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... |
ORPHA:818 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... |
ORPHA:353277 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Dysphagia, Corneal opacity |
ORPHA:2908 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Opacification of the corneal stroma |
OMIM:253000 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral... |
OMIM:252500 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Ataxia, Corneal opacity, Confusion, Tremor, Type II diabetes mellitus, Pulmonic stenosi... |
ORPHA:3455 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... |
ORPHA:90348 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... |
ORPHA:2273 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Opacification of the corneal stroma, Dysphagia |
OMIM:601559 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio... |
ORPHA:709 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Ataxia, Iris coloboma, Sclerocornea |
ORPHA:280 |
Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Meckel Syndrome |
|
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |