Dystonia 31 |
|
Abnormal posturing, Writer's cramp, Leg dystonia, Difficulty walking, Depression, Dysphagia, Cran... |
OMIM:619565 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Cln3 Disease |
|
Aggressive behavior, Memory impairment, Shuffling gait, Anxiety, T-wave inversion, Dementia, Atax... |
ORPHA:228346 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Dementia, Diabetes mellitus, Cataract, Depression, Arrhythmia, Dysphagia, Brady... |
OMIM:609286 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia |
ORPHA:3177 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Premature ventricular contraction, Hypoglycem... |
OMIM:212138 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Dystonia 12 |
|
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Dysphagia, Unsteady gait, Dystonia,... |
OMIM:128235 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Irritability, Inability to walk |
OMIM:616657 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Huntington Disease-Like 2 |
|
Inertia, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical dementia, Ir... |
OMIM:606438 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... |
OMIM:618815 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Tremor, Rea... |
ORPHA:276608 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... |
OMIM:619191 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Shuffling gait, Abnor... |
ORPHA:3077 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Emotional lability, Craniofacial dystoni... |
ORPHA:71517 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Syncope, Neo... |
ORPHA:324575 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Apathy, Tremor, Dystonia, Depression, Anxiety, Mental deteriorati... |
ORPHA:240085 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Truncal ataxia, Intention tremor, Dystonia, Atrioventricular block, B... |
OMIM:614407 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Lethargy, Irritability, Restlessness |
OMIM:605899 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, Irritabi... |
ORPHA:248111 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Dementia, Depression, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Torsion dyston... |
OMIM:128100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Bradycardia, Congestive heart failure |
OMIM:619048 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Syncope, Type I diabetes mellitus,... |
ORPHA:276580 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Bradycardia |
OMIM:616277 |
Huntington Disease-Like 1 |
|
Restlessness, Gait ataxia, Abnormal posturing, Cognitive impairment, Gait disturbance, Dementia, ... |
ORPHA:157941 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Syncope, Hyperinsulinemic hypoglycemia, Agitation, Hypertrophic cardiom... |
ORPHA:276556 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Cognitive impairment, Tip-toe gait, Inability to walk, Gait disturbance, Atte... |
ORPHA:216866 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Corneal opacity, Ataxia |
ORPHA:1532 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Cataract, Attention deficit hyperactivity disorder, Blue irid... |
OMIM:261600 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Tremor |
OMIM:619470 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic h... |
ORPHA:276575 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Tremor, Mental deterioration, Dysphagia, Dystonia |
OMIM:304700 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Dystonia, Bradycardia |
OMIM:614702 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia, Tremor |
OMIM:300983 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder |
ORPHA:2382 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Dystonia, Bradycardia |
OMIM:616299 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Depression, Anxiety, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, Bradycardia, Sick sinu... |
ORPHA:542306 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia |
OMIM:271310 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... |
ORPHA:98818 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Timothy Syndrome |
|
Hypoglycemia, Bradycardia, Prolonged QT interval |
OMIM:601005 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Bradycardia |
OMIM:614654 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Abnormal posturing, Resting tremor, Titubation, Inappropriate crying, Gait disturban... |
ORPHA:225147 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Wagro Syndrome |
|
Aggressive behavior, Hypertension, Agitation, Emotional lability, Cataract, Polyphagia, Corneal o... |
OMIM:612469 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
Trimethylaminuria |
|
Tachycardia, Hypertension, Depression |
OMIM:602079 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia |
OMIM:615924 |
Tetanus |
|
Hypertension, Tremor, Dysphagia, Opisthotonus, Bradycardia, Tachycardia |
ORPHA:3299 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Aggressive behavior, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyperactivi... |
OMIM:152950 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Supraventricular arrhythmia, Torticollis, Focal dystonia, Head tremor, Axial dyst... |
ORPHA:420492 |
Morm Syndrome |
|
Cataract, Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Mucolipidosis Iv |
|
Progressive neurologic deterioration, Opacification of the corneal stroma, Dystonia, Corneal opacity |
OMIM:252650 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... |
OMIM:261740 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Harel-Yoon Syndrome |
|
Inability to walk, Developmental cataract, Ataxia, Hypertrophic cardiomyopathy, Corneal opacity, ... |
OMIM:617183 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Iris hypopigmentation, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia,... |
ORPHA:411515 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension, Depression, Anxiety |
OMIM:121300 |
Mucolipidosis Type Iii |
|
Cognitive impairment, Corneal opacity |
ORPHA:577 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder |
OMIM:619927 |
Alcohol Dependence |
|
Alcoholism |
OMIM:103780 |
Alpha-Mannosidosis, Adult Form |
|
Ataxia, Aortic regurgitation, Cataract, Corneal opacity, Depression, Anxiety |
ORPHA:309288 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Emotional lability, Keratitis, Opacification of the corneal stro... |
OMIM:256800 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Shock, Hyperglycemia, Lethargy, Bradycardia |
ORPHA:391673 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk, Tremor |
OMIM:618718 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Developmental cataract, Impulsivity, A... |
OMIM:620141 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Hypertension, Diabetes mellitus, Depression, Anxiety, Agoraphobia, ... |
OMIM:184850 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd... |
ORPHA:137675 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Unsteady gait, Self-mutilation |
OMIM:615516 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Inability to walk, Anxiety, Truncal ataxia, Dysdiadochokinesi... |
ORPHA:228360 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Neonatal hypoglycemia, Leg dystonia, Loss of ambulation, Bradycardia |
ORPHA:565624 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety |
OMIM:271980 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Motor deterioration, Emotional lability, Dementia, Loss of ambulation, Depr... |
ORPHA:79264 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Impulsivity, Dysphagia, Dystonia |
ORPHA:500180 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Bradycardia, Mental deterioration |
ORPHA:83600 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperinsulinemia, Hyperactivity, Cognitive impairment, Limb dystonia, Insulin resist... |
ORPHA:363400 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Emotional lability, Diabetes mellitus, Difficulty walking, A... |
ORPHA:3198 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety |
OMIM:619467 |
Norrie Disease |
|
Aggressive behavior, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior ... |
OMIM:310600 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Anxiety, Oculogyric crisis, Hypertension, Agitation, Hypertensiv... |
ORPHA:94093 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Postural tremor, Resting tremor, Leg dystonia, Anxiety, Bradykinesia |
OMIM:606324 |
D-Glyceric Aciduria |
|
Hypoglycemia, Bradycardia, Opisthotonus |
OMIM:220120 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:87876 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Loss of ambulation, Palpitations, Difficulty walking, Second degree atrioventricular blo... |
OMIM:616812 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... |
ORPHA:263455 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... |
OMIM:614170 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis |
OMIM:620023 |
Lujo Hemorrhagic Fever |
|
Hypotension, Anxiety, Resting tremor, Subconjunctival hemorrhage, Shock, Dysphagia, Mental deteri... |
ORPHA:319213 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, Depressi... |
ORPHA:485350 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Inability to walk |
OMIM:166300 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Cognitive impairment, Inability to walk, Hemidystonia, Emotional lability, Attenti... |
ORPHA:1929 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Prolonged QT interval, Dysphagia, Bradycardia, Tachycardia,... |
OMIM:613327 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Hypoglycemia, Irritability, Tachycardia |
OMIM:229700 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Neonatal hypoglycemia, Attention deficit hyperactivity disorder, Anx... |
OMIM:617600 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Cognitive impairment, Self-injurious behavior, Bipolar affective disorder, Ataxia,... |
OMIM:601853 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Opisthotonus, Bradycardia |
OMIM:619272 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Aggressive behavior, Impulsivity, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Attention deficit hyperactivity disorder, Bradycardia, Depression |
ORPHA:90674 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Emotional lability, Pol... |
ORPHA:525731 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia, Congestive heart failure |
OMIM:275000 |
Acitretin/Etretinate Embryopathy |
|
Antecubital pterygium, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Serotonin Syndrome |
|
Hypotension, Mydriasis, Hypertension, Agitation, Tremor, Anxiety, Mental deterioration, Irritabil... |
ORPHA:43116 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Gm1 Gangliosidosis |
|
Oral aversion, Cognitive impairment, Gait disturbance, Congestive heart failure, Ataxia, Tremor, ... |
ORPHA:354 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Spastic gait, Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysmetria, Menta... |
OMIM:610217 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Sialidosis Type 1 |
|
Gait disturbance, Ataxia, Cataract, Tremor, Corneal opacity |
ORPHA:812 |
Cystinosis |
|
Gait disturbance, Type I diabetes mellitus, Corneal opacity, Portal hypertension, Polydipsia |
ORPHA:213 |
Acquired Methemoglobinemia |
|
Syncope, Arrhythmia, Palpitations, Anxiety, Tachycardia |
ORPHA:464453 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Type I diabetes mellitus |
ORPHA:290 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Choking episodes, Gait disturbance, Psychomotor deterioration, Emotional lability,... |
ORPHA:35069 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Inability to walk, Motor deterioration, Gait disturbance, Men... |
ORPHA:168491 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia, Cataract, Tremor, Dystonia, Dysphagia, Bradycardia |
OMIM:617248 |
Alpha-Mannosidosis |
|
Type II diabetes mellitus, Cataract, Corneal opacity |
ORPHA:61 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Developmental cataract, Ataxia, Cataract, Dysmetria, Corneal opacity |
ORPHA:93400 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Gait disturbance, Dementia, Attention d... |
ORPHA:43 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r... |
ORPHA:3163 |
Syndromic Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Corneal opacity |
ORPHA:281090 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inability to walk, Ataxia, Abnormal cornea morphology, Corneal opacity, Athetosis, Dystonia |
ORPHA:357058 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia, Ataxia |
OMIM:230650 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Difficulty walking, Inability to walk, Dysphagia |
ORPHA:70 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Hypertension, Diabetes mellitus, Att... |
ORPHA:449291 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Gait disturbance, Hypertension, Ataxia, Heterochromia... |
ORPHA:1764 |
Fabry Disease |
|
Cognitive impairment, Mucosal telangiectasiae, Anxiety, Transient ischemic attack, Bundle branch ... |
ORPHA:324 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Iris hypopigmentation, Happy demeanor, Ataxia, Inappropriate laugh... |
ORPHA:98794 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Lethargy |
OMIM:614857 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Arrhythmia |
OMIM:600430 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... |
ORPHA:99827 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Aggressive behavior, Ataxia, Impulsivity, Anxiety, Dystonia, Pulmonic stenosis |
OMIM:616977 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Cardiomyopathy |
ORPHA:93476 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Dysmetria, Cataract, Loss of ambulation, Corneal opacity, Dysphagia |
ORPHA:93399 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Difficulty walking, Kayser-Fleischer ring, Depression |
ORPHA:905 |
Adenylosuccinase Deficiency |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Happy demeanor, Inappropriate... |
OMIM:103050 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma, Gait disturbance |
OMIM:271630 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
Marburg Hemorrhagic Fever |
|
Hypotension, Aggressive behavior, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Hypoglyc... |
ORPHA:99826 |
Paragangliomas 3 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:605373 |
16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Skin-picking, Nail-biting, Anxiety, Tach... |
ORPHA:485405 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Generalized dystonia, Aggressive behavior, Dilated cardiomyopathy, Ataxia, Cataract,... |
OMIM:618321 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Aggressive behavior, Reduced left ventricular ejection fraction, Hypersexuality, D... |
ORPHA:581 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Heart murmur |
ORPHA:1867 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation |
OMIM:618775 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety, Inability to walk, Iris hyp... |
ORPHA:72 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the... |
ORPHA:96125 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
Oculomaxillofacial Dysostosis |
|
Cognitive impairment, Corneal opacity |
ORPHA:1794 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... |
OMIM:610042 |
Mucolipidosis Type Iv |
|
Gait disturbance, Corneal opacity, Ataxia |
ORPHA:578 |
Neurotrophic Keratopathy |
|
Corneal scarring, Allodynia, Corneal stromal edema, Diabetes mellitus, Astigmatism, Corneal perfo... |
ORPHA:137596 |
Sheehan Syndrome |
|
Bradycardia, Orthostatic hypotension, Hypoglycemia, Palpitations |
ORPHA:91355 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Insulin insensitivity, Type II diabetes mellitus, Posterior subcapsula... |
OMIM:602668 |
Sepsis In Premature Infants |
|
Hypotension, Bradycardia, Tachycardia |
ORPHA:90051 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Dystonia, Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Cognitive impairment, Cerebral ischemia, Gai... |
ORPHA:464 |
Mucopolysaccharidosis, Type Iiib |
|
Progressive neurologic deterioration, Hyperactivity, Aggressive behavior, Asymmetric septal hyper... |
OMIM:252920 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Paragangliomas 1 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:168000 |
Bohring-Opitz Syndrome |
|
Bradycardia, Happy demeanor, Inability to walk |
ORPHA:97297 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Scl... |
OMIM:300952 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Zellweger Syndrome |
|
Brushfield spots, Cognitive impairment, Posterior embryotoxon, Cataract, Corneal opacity |
ORPHA:912 |
Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Torticollis |
ORPHA:71272 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Ataxia, Skin-picking, Mental deterioration, Low frustration t... |
ORPHA:163681 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Abnormal left ventricular function, Pulmonic stenosis, Corneal opacity |
OMIM:301056 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Aortic regurgitation, Astigmatism, Attention deficit hyperactivity disorder, Co... |
ORPHA:464311 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ante... |
ORPHA:91495 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Ectopia lentis, Anterior sub... |
OMIM:106210 |
Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Memory impairment, Tremor, Abnormal eating behavior, Lethargy... |
ORPHA:247585 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Mitral regurgitation, Corneal opacity, Aortic valve stenosis, Opacification of the cornea... |
OMIM:253010 |
Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... |
ORPHA:2388 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Hypertension, Impulsivity, Corneal opac... |
ORPHA:580 |
Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Aortic regurgitation, Astigmatism, Corneal opacity, Anxiety, Aor... |
ORPHA:464306 |
Tbck-Related Intellectual Disability Syndrome |
|
Cognitive impairment, Inability to walk, Bipolar affective disorder, Corneal opacity, Pulmonic st... |
ORPHA:488632 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... |
ORPHA:1830 |
Alpha-Mannosidosis, Infantile Form |
|
Ataxia, Aortic regurgitation, Astigmatism, Cataract, Mitral regurgitation, Corneal opacity, Depre... |
ORPHA:309282 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Corneal opacity, Ataxia |
OMIM:272200 |
Hurler Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Corneal opacity, Progressive neurologic deterioration... |
OMIM:607014 |
Scorpion Envenomation |
|
Mydriasis, Glycosuria, Cardiogenic shock, T-wave inversion, Prominent U wave, Bundle branch block... |
ORPHA:466677 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Iris hypopigmentation, Ataxia, Cataract, Corneal opacity, Athetosis |
ORPHA:2719 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Cataract, Corneal opacity |
ORPHA:585 |
Mucopolysaccharidosis Type 4 |
|
Gait disturbance, Cognitive impairment, Corneal opacity |
ORPHA:582 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Norrie Disease |
|
Abnormal pupil morphology, Self-injurious behavior, Hypoplasia of the iris, Anterior chamber syne... |
ORPHA:649 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Dementia, Ataxia, Trem... |
OMIM:234200 |
Hurler Syndrome |
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Hypertension, Angina pectoris, Corneal opacity, Depression, Cardiomyopathy |
ORPHA:93473 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Aggressive behavior, Keratoconjunctivitis sicca, Buphthalmos, Attention deficit hyperactivity dis... |
ORPHA:495875 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Hypoglycemia, Lethargy, Bradycardia |
ORPHA:226307 |
Walker-Warburg Syndrome |
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Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:899 |
Vici Syndrome |
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Abnormal posturing, Ocular albinism, Congestive heart failure, Developmental cataract, Dilated ca... |
OMIM:242840 |
Ichthyosis, X-Linked |
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Opacification of the corneal stroma |
OMIM:308100 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Microphthalmia, Isolated, With Coloboma 9 |
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Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea |
OMIM:615145 |
Dyggve-Melchior-Clausen Disease |
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Difficulty walking, Hyperactivity, Corneal opacity, Inability to walk |
ORPHA:239 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Anterior Segment Dysgenesis 1 |
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Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Bartsocas-Papas Syndrome |
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Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Olmsted Syndrome 1 |
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Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Astigmatism, Difficulty walking, Sinus bradycardia, Dysphagia |
OMIM:619482 |
Oculocerebrocutaneous Syndrome |
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Iris coloboma, Corneal opacity |
ORPHA:1647 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Short Qt Syndrome 3 |
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Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Microphthalmia With Brain And Digit Anomalies |
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Iris coloboma, Cataract, Sclerocornea, Microcornea |
ORPHA:139471 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Bradycardia |
OMIM:218700 |
8Q21.11 Microdeletion Syndrome |
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Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
Congenital Disorder Of Deglycosylation 1 |
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Restlessness, Impaired oropharyngeal swallow response, Dysmetria, Impaired oral bolus formation, ... |
OMIM:615273 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Corneal opacity |
OMIM:602400 |
Mucopolysaccharidosis, Type Vi |
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Pulmonary arterial hypertension, Pulmonary insufficiency, Tricuspid regurgitation, Sinus tachycar... |
OMIM:253200 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Telangiectasia, Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Pete... |
OMIM:612582 |
Focal Dermal Hypoplasia |
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Cognitive impairment, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity, Tel... |
ORPHA:2092 |
Lcat Deficiency |
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Corneal opacity |
ORPHA:650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Rodrigues Blindness |
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Sclerocornea, Microcornea |
OMIM:268320 |
Williams Syndrome |
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Sudden cardiac death, Aplasia/Hypoplasia of the iris, Supravalvular aortic stenosis, Hypertrophic... |
ORPHA:904 |
Microphthalmia, Syndromic 16 |
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Sclerocornea |
OMIM:611038 |
Dyschondrosteosis-Nephritis Syndrome |
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Corneal opacity |
ORPHA:1765 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
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Opacification of the corneal stroma |
OMIM:204850 |
De Barsy Syndrome |
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Cataract, Athetosis, Corneal opacity, Progressive cerebellar ataxia |
ORPHA:2962 |
Tangier Disease |
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Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Mucopolysaccharidosis, Type Vii |
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Corneal opacity, Cardiomyopathy |
OMIM:253220 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Ataxia, Impulsivity, Tremor, Attention deficit hyperactivity disorder, Difficulty walking, Mental... |
ORPHA:442835 |
Paragangliomas 4 |
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Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:115310 |
Oculoauricular Syndrome |
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Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar... |
OMIM:309801 |
Ophthalmomandibulomelic Dysplasia |
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Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Abnormal cornea morphology, Bradycardia, Dilated cardiomyopathy |
ORPHA:79404 |
Schimke Immunoosseous Dysplasia |
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Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti... |
OMIM:242900 |
Microcephaly 29, Primary, Autosomal Recessive |
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Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Farber Disease |
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Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma |
ORPHA:333 |
Sanjad-Sakati Syndrome |
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Astigmatism, Corneal opacity |
ORPHA:2323 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of the iris, Polycoria, Limb... |
OMIM:175780 |
Yellow Fever |
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Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho... |
ORPHA:99829 |
Gaucher Disease |
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Pulmonary arterial hypertension, Ataxia, Tremor, Corneal opacity, Depression, Dysphagia |
ORPHA:355 |
Mucopolysaccharidosis Type 1 |
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Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity |
ORPHA:579 |
Neurofibromatosis Type 1 |
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Hypertension, Ataxia, Cataract, Heterochromia iridis, Attention deficit hyperactivity disorder, C... |
ORPHA:636 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Corneal opacity, Gait disturbance, Peripheral opacification of the cornea |
OMIM:259600 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal pupil morphology, Lentiglobus, Self-injurious behavior, Buphthalmos, Cataract, Attention... |
ORPHA:534 |
Wilson Disease |
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Glycosuria, Limb dystonia, Hand tremor, Dementia, Tremor, Kayser-Fleischer ring, Dysphagia, Dystonia |
OMIM:277900 |
Al-Gazali Syndrome |
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Corneal opacity, Sclerocornea |
OMIM:609465 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Corneal opacity |
OMIM:163200 |
Coloboma, Ocular, Autosomal Dominant |
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Peters anomaly, Corneal opacity |
OMIM:120200 |
Mucopolysaccharidosis Type 2, Severe Form |
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Cognitive impairment, Heart murmur, Hypertension, Corneal opacity, Arrhythmia, Mental deteriorati... |
ORPHA:217085 |
Legius Syndrome |
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Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Cataract, Attention deficit h... |
ORPHA:137605 |
Fucosidosis |
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Corneal opacity |
ORPHA:349 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Cognitive impairment, Heart murmur, Hypertension, Corneal opacity, Arrhythmia, Mental deteriorati... |
ORPHA:217093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity |
OMIM:236670 |
3Q29 Microduplication Syndrome |
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Iris coloboma, Sclerocornea, Aniridia, Cataract |
ORPHA:251038 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
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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Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Shuffling gait, Transien... |
ORPHA:740 |
Pseudo-Torch Syndrome 1 |
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Cataract, Dystonia, Opacification of the corneal stroma |
OMIM:251290 |
Microphthalmia With Linear Skin Defects Syndrome |
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Posterior embryotoxon, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation,... |
ORPHA:2556 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Megalocornea, Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Aortic valve stenos... |
ORPHA:536471 |
Oculoectodermal Syndrome |
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Hyperactivity, Transient ischemic attack, Limbal dermoid, Microcornea, Astigmatism, Hypertrophic ... |
OMIM:600268 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Apolipoprotein A-I Deficiency |
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Opacification of the corneal stroma, Angina pectoris |
ORPHA:425 |
Mucolipidosis Iii Alpha/Beta |
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Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Mosaic Trisomy 9 |
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Corneal opacity |
ORPHA:99776 |
Premature Aging Syndrome, Penttinen Type |
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Corneal opacity, Corneal stromal edema |
OMIM:601812 |
Stromme Syndrome |
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Microcornea, Iris coloboma, Peters anomaly, Cataract, Sclerocornea |
OMIM:243605 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Brushfield spots, Heart murmur, Aortic regurgitation, Athetosis, Cataract, Mitral regurgitation, ... |
OMIM:614866 |
Gorlin-Chaudhry-Moss Syndrome |
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Astigmatism, Sclerocornea |
ORPHA:2095 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Orthostatic hypotension due to autonomic dysfunction, Hyperactivity, Abnormal emotion/affect beha... |
ORPHA:642 |
Moebius Syndrome |
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Corneal opacity, Dysphagia |
ORPHA:570 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Iris coloboma, Sclerocornea |
ORPHA:77298 |
Axenfeld-Rieger Syndrome, Type 2 |
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Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
Fryns Syndrome |
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Corneal opacity |
ORPHA:2059 |
Mosaic Trisomy 8 |
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Corneal opacity |
ORPHA:96061 |
Carpenter Syndrome 1 |
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Opacification of the corneal stroma, Pulmonic stenosis, Microcornea |
OMIM:201000 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Brushfield spots, Opacification of the corneal stroma, Cataract, Loss of ambulation, Dysphagia, U... |
OMIM:214100 |
Mucoepithelial Dysplasia, Hereditary |
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Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... |
OMIM:158310 |
Mosaic Variegated Aneuploidy Syndrome |
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Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:1052 |
Unilateral Polymicrogyria |
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Epistaxis, Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Encephalocraniocutaneous Lipomatosis |
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Pulmonary arterial hypertension, Aortic valve stenosis, Iris coloboma, Corneal opacity |
ORPHA:2396 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Cockayne Syndrome A |
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Gait disturbance, Hypertension, Dementia, Ataxia, Cataract, Tremor, Arrhythmia, Opacification of ... |
OMIM:216400 |
Autoimmune Polyendocrinopathy Type 1 |
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Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Mucopolysaccharidosis Type 6 |
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Opacification of the corneal stroma, Cognitive impairment |
ORPHA:583 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Xeroderma Pigmentosum |
|
Telangiectasia, Cognitive impairment, Pterygium, Ataxia, Cataract, Conjunctival telangiectasia, T... |
ORPHA:910 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Hypertension, Developmental cataract, Microcornea, Ataxia, Tremor, Arrhyt... |
OMIM:133540 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Gait disturbance, Ataxia, Aortic regurgitation, Loss of ambulation, Corneal ... |
ORPHA:666 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Ataxia, Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251300 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Iris coloboma, Cataract, Attention deficit hyperactivity disorder, Scler... |
ORPHA:818 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Limb ataxia, Corneal opacity, ... |
ORPHA:2072 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma, Waddling gait |
OMIM:253000 |
Autosomal Dominant Cutis Laxa |
|
Congestive heart failure, Developmental cataract, Aortic regurgitation, Mitral regurgitation, Cor... |
ORPHA:90348 |
Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Tip-toe gait, Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertr... |
OMIM:252500 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Corneal erosion, Dementia, Astigmatism, Corneal opacity, Mental deterioration, Ke... |
ORPHA:2273 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, Type II diabetes mellitus, Ataxia, Cataract, Tremor, Corneal opacity, Action trem... |
ORPHA:3455 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity, Dysphagia |
ORPHA:2908 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Stuve-Wiedemann Syndrome 1 |
|