Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Visual loss |
OMIM:258700 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
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Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
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T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
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Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
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T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration, Blindness |
OMIM:271250 |
Chromosome Xq21 Deletion Syndrome |
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Conductive hearing impairment, Choroideremia, Nyctalopia, Constriction of peripheral visual field... |
OMIM:303110 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
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Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
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Optic atrophy, Hearing impairment, Blindness, Severely reduced visual acuity |
OMIM:309555 |
Incessant Infant Ventricular Tachycardia |
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Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Retinitis Pigmentosa Inversa With Deafness |
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Sensorineural hearing impairment, Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Usher Syndrome, Type Iid |
|
Hearing impairment, Blindness, Rod-cone dystrophy |
OMIM:611383 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome |
|
Infantile sensorineural hearing impairment, Rod-cone dystrophy, Severely reduced visual acuity |
ORPHA:3011 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Vest... |
ORPHA:231169 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Conjunctival telangiectasia, Optic atrophy, Cochlear degeneration, Heari... |
ORPHA:95433 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, High hypermetropia, Nyctalopia, Vestibular hypofunction, Hemian... |
ORPHA:231183 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
EEG abnormality, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Visual... |
OMIM:610951 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
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Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Optic Atrophy 3, Autosomal Dominant |
|
Reduced visual acuity, Optic atrophy, Optic disc pallor, Scotoma, Hearing impairment |
OMIM:165300 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Centrocecal scotoma, Abnormal amplitude of pattern reversal visual evoked potentials, Tritanomaly... |
OMIM:125250 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Reduced visual acuity, Progressive hearing impairment, Optic at... |
OMIM:614296 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Prolonged soma... |
OMIM:616648 |
Macular Dystrophy With Central Cone Involvement |
|
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... |
OMIM:616170 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of ... |
OMIM:204000 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... |
ORPHA:75377 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Canavan Disease |
|
Abnormality of retinal pigmentation, EEG abnormality, Abnormality of visual evoked potentials, Op... |
ORPHA:141 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... |
ORPHA:90646 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Usher Syndrome, Type Iiia |
|
Sensorineural hearing impairment, Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced vi... |
OMIM:276902 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... |
OMIM:600138 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Usher Syndrome, Type Iv |
|
Sensorineural hearing impairment, Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of... |
OMIM:618144 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Narp Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal p... |
ORPHA:644 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Usher Syndrome, Type 1M |
|
Nyctalopia, Optic disc pallor, Prelingual sensorineural hearing impairment, Vestibular dysfunctio... |
OMIM:618632 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... |
ORPHA:41751 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... |
OMIM:605670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:615158 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Inc... |
OMIM:256730 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Hearing impairment, Blindness |
OMIM:302700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Reduced visual ... |
OMIM:204200 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Blindness, Abnormality of retina... |
ORPHA:791 |
Leukodystrophy, Hypomyelinating, 14 |
|
Hearing impairment, Blindness, Cerebral atrophy, Cerebellar atrophy |
OMIM:617899 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
Stargardt Disease 3 |
|
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment |
OMIM:600110 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... |
OMIM:607921 |
Leber Congenital Amaurosis 4 |
|
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... |
OMIM:604393 |
Sandhoff Disease |
|
Hearing impairment, Blindness, Cherry red spot of the macula |
ORPHA:796 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Bothnia Retinal Dystrophy |
|
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... |
ORPHA:85128 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... |
OMIM:204100 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Leber Congenital Amaurosis 13 |
|
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... |
OMIM:612712 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy... |
OMIM:551500 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... |
OMIM:614500 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, EEG abnormality, Decreased nerve conduction velocity, Ne... |
OMIM:245200 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... |
ORPHA:1435 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Retinitis Pigmentosa 33 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... |
OMIM:610359 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Retinitis Pigmentosa 32 |
|
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... |
OMIM:609913 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness, Macular atrophy |
OMIM:617781 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... |
OMIM:608051 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... |
OMIM:303100 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:617123 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... |
OMIM:180210 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... |
OMIM:153700 |
Retinitis Pigmentosa 78 |
|
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... |
OMIM:617433 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Sensorineural hearing impairment, Reduced visual acuity, Optic atrophy, Retinal vascular tortuosi... |
OMIM:618768 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... |
OMIM:613862 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Microphthalmia, Isolated 5 |
|
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... |
OMIM:611040 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:616394 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:601718 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Constriction of peripheral... |
ORPHA:1215 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Retinitis Pigmentosa 27 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... |
OMIM:613750 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Sensorineural hearing impairment, Absent retinal pigment epithelium, Reduced visual acuity, Paten... |
OMIM:122430 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Blindness, Visual loss, Optic atrophy, Undetectable visual evok... |
OMIM:601338 |
Retinitis Pigmentosa 1 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180100 |
Macular Dystrophy, Vitelliform, 5 |
|
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... |
OMIM:616152 |
Nanophthalmos 4 |
|
Reduced visual acuity, Visual impairment, Optic disc drusen |
OMIM:615972 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... |
OMIM:136550 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials |
ORPHA:99852 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal hyperpigmentation, Constriction of peripheral visual field, Abnormal macular morpho... |
ORPHA:414 |
Retinitis Pigmentosa 29 |
|
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612165 |
Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... |
OMIM:608553 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Constriction of peripheral visual field, Reduced visual acuity,... |
OMIM:612989 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... |
OMIM:616079 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Optic Pathway Glioma |
|
Visual field defect, Papilledema, Reduced visual acuity, Visual loss, Optic atrophy, Vertigo, Bli... |
ORPHA:2086 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... |
OMIM:608850 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Renal Tubular Acidosis, Proximal |
|
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Blindness |
ORPHA:2787 |
Canavan Disease |
|
Blindness, Brain atrophy, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, Hear... |
OMIM:271900 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... |
ORPHA:97341 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... |
ORPHA:827 |
Leber Congenital Amaurosis 12 |
|
Abnormality of macular pigmentation, Congenital blindness |
OMIM:610612 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... |
OMIM:304020 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia |
OMIM:614181 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... |
OMIM:613341 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Constrict... |
ORPHA:436245 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276556 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:610189 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal motor evoked potentials, Abnormality of visual evoked ... |
ORPHA:320401 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, High hypermetropia, Brain atrophy, Retinal degeneration, Cerebr... |
OMIM:619260 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Low-set, p... |
ORPHA:1390 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia |
OMIM:615922 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Sarcosinemia |
|
Optic atrophy, Infantile sensorineural hearing impairment, Congenital blindness |
ORPHA:3129 |
Optic Atrophy 1 |
|
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... |
OMIM:165500 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Jalili Syndrome |
|
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy |
OMIM:217080 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... |
OMIM:606068 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... |
OMIM:618826 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness |
OMIM:613731 |
Optic Atrophy 9 |
|
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... |
OMIM:616289 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness |
OMIM:136900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Optic atrophy, Blindness, Abnormal autonomic nervous system phy... |
OMIM:598500 |
Leber Congenital Amaurosis 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment |
OMIM:614186 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... |
ORPHA:411527 |
Cavitary Optic Disc Anomalies |
|
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity |
OMIM:611543 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276575 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Cerebral ... |
OMIM:617519 |
Macular Degeneration, Early-Onset |
|
Reduced visual acuity, Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Retinitis Punctata Albescens |
|
Photophobia, Progressive visual field defects, Congenital sensorineural hearing impairment, Absen... |
ORPHA:52427 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Optic atrophy, Visual impairment, Reduced visual acuity |
OMIM:270500 |
Congenital Stationary Night Blindness |
|
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... |
ORPHA:215 |
Optic Atrophy 12 |
|
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... |
OMIM:618977 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... |
OMIM:617460 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Uplifted earlobe, Protruding ear, Visual field defect, Reduced visual acuity, Optic atrophy, Prom... |
OMIM:615722 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276580 |
Fleck Retina, Familial Benign |
|
Blindness, Retinal flecks |
OMIM:228980 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia |
OMIM:300952 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... |
OMIM:619382 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... |
OMIM:613428 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Retinal Capillary Malformation |
|
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... |
ORPHA:71213 |
Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
Achromatopsia |
|
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... |
ORPHA:49382 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:619007 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduction velocity,... |
OMIM:601455 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... |
OMIM:611131 |
Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... |
OMIM:600105 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... |
OMIM:169150 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
Congenital stationary night blindness, Blindness |
OMIM:610444 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Blindness |
OMIM:613830 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Optic Atrophy 11 |
|
Facial diplegia, Hypermetropia, Brain atrophy, Amblyopia, Optic atrophy, Macrotia, Hearing impair... |
OMIM:617302 |
Choroideremia |
|
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... |
ORPHA:180 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... |
OMIM:300476 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... |
OMIM:614180 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Macular Dystrophy, Vitelliform, 3 |
|
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... |
OMIM:608161 |
Infantile Refsum Disease |
|
Sensorineural hearing impairment, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visu... |
ORPHA:772 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... |
OMIM:619531 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... |
OMIM:608133 |
Cone-Rod Dystrophy 15 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... |
OMIM:613660 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Macular Dystrophy, Vitelliform, 1 |
|
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Retinopathy, Blindness |
ORPHA:216873 |
Macular Degeneration, X-Linked Atrophic |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Congenital sensorineural hearing impairment, Blindness, EEG with focal epileptiform discharges, D... |
ORPHA:1187 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Retinal degeneration, Cerebral atrophy, Rod-cone dystrophy, Neur... |
ORPHA:391428 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... |
OMIM:600852 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Irvan Syndrome |
|
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... |
ORPHA:209943 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... |
OMIM:600059 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Cone Rod Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment |
ORPHA:1872 |
Retinitis Pigmentosa 35 |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:610282 |
Paragangliomas 1 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
Retinoschisis Of Fovea |
|
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... |
OMIM:268080 |
Cone-Rod Dystrophy 2 |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... |
OMIM:120970 |
Leber Congenital Amaurosis 15 |
|
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... |
OMIM:613843 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Photophobia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scotoma, Blin... |
OMIM:616732 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Cone-Rod Dystrophy 12 |
|
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... |
OMIM:612657 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Retinitis Pigmentosa 2 |
|
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... |
OMIM:312600 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... |
OMIM:613794 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Severe Canavan Disease |
|
Optic atrophy, Blindness |
ORPHA:314911 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Abnormal amplitude of flash visual evoked potentials, Cerebral... |
ORPHA:168491 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Retinitis Pigmentosa 68 |
|
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia |
OMIM:615725 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Reduced visual acuity, Central scotoma, Visual impairment |
OMIM:615035 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... |
OMIM:617406 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... |
OMIM:613801 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Newfoundland Rod-Cone Dystrophy |
|
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment |
OMIM:607476 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Nyctalopia, Attenu... |
OMIM:609033 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... |
OMIM:618195 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Color vision defect, Reduced visual acuity, Optic atrophy, O... |
ORPHA:98890 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... |
OMIM:180104 |
Aica-Ribosuria Due To Atic Deficiency |
|
Optic atrophy, Low-set ears, Congenital blindness |
OMIM:608688 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Madras Motor Neuron Disease |
|
Sensorineural hearing impairment, Reduced visual acuity, Optic atrophy, Tinnitus, Facial palsy, V... |
ORPHA:137867 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia |
OMIM:616335 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Sensorineural hearing impairment, Optic atrophy, Nyctalopia |
ORPHA:99947 |
Usher Syndrome |
|
Sensorineural hearing impairment, Visual field defect, Blindness, Cerebral cortical atrophy, Abno... |
ORPHA:886 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Brain atrophy, Optic atrophy, Profound hearing impairment, Macrotia, B... |
ORPHA:3078 |
Warsaw Breakage Syndrome |
|
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma |
OMIM:613398 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Retinitis Pigmentosa 3 |
|
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... |
OMIM:300029 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Facial palsy, Optic atrophy, Hearing impairment, Visual impairment |
ORPHA:53 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
Retinitis Pigmentosa 18 |
|
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... |
OMIM:601414 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Cone-Rod Dystrophy 13 |
|
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... |
OMIM:608194 |
Retinal Dystrophy And Obesity |
|
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... |
OMIM:616188 |
Achromatopsia 7 |
|
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... |
OMIM:616517 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy, Reduced visual acuity, Cerebral atrophy |
OMIM:618770 |
Night Blindness, Congenital Stationary, Type 1E |
|
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia |
OMIM:614565 |
Usher Syndrome Type 2 |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Nyctalopia, Hemianopia, Visual loss,... |
ORPHA:231178 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Reduced visual acuity, Visual impairment, Retinal dystrophy |
OMIM:610156 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... |
OMIM:600501 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... |
OMIM:133780 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Visual loss, Interictal EEG abnor... |
ORPHA:79264 |
Retinal Cone Dystrophy 3B |
|
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia |
OMIM:610356 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, EEG abnormality, Abnormality of visual evoked potentials, Optic... |
ORPHA:2971 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis |
OMIM:615453 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Blindness, Decreased nerve conduction velocity, A... |
ORPHA:206443 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Hearing impairment, Retinal infarction, Abnormal... |
OMIM:180080 |
Fleck Retina Of Kandori |
|
Blindness, Nyctalopia, Retinal flecks |
OMIM:228990 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
Leber Congenital Amaurosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely... |
ORPHA:65 |
Retinitis Pigmentosa 10 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180105 |
Bothnia Retinal Dystrophy |
|
Nyctalopia, Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... |
OMIM:612095 |
Morm Syndrome |
|
Visual impairment, Retinal atrophy, Retinal dystrophy, Progressive night blindness |
ORPHA:75858 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... |
OMIM:619977 |
Retinitis Pigmentosa 92 |
|
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... |
OMIM:619614 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Slow decrease in visual acuity, Color vision defect, Decreased motor nerve conduction velocity, A... |
OMIM:601152 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Retinitis Pigmentosa 51 |
|
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... |
OMIM:613464 |
Cone Dystrophy 3 |
|
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... |
OMIM:602093 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... |
OMIM:267760 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cerebral atrophy, A... |
OMIM:256600 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Retinitis Pigmentosa 66 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... |
OMIM:615233 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... |
OMIM:613617 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Nyctalopia |
OMIM:179840 |
Cinca Syndrome |
|
Sensorineural hearing impairment, Blindness, EEG abnormality, Pseudopapilledema, Retrobulbar opti... |
ORPHA:1451 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... |
OMIM:193220 |
Retinitis Pigmentosa 49 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... |
OMIM:613756 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Retinitis Pigmentosa 72 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... |
OMIM:616469 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Reduced visual acuity, Visual impairment |
OMIM:614947 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Reduced visual acuity, High hypermetropia, Retinal degeneration |
OMIM:617879 |
Infantile Krabbe Disease |
|
Photophobia, Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of v... |
ORPHA:206436 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... |
OMIM:312612 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... |
OMIM:601813 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... |
OMIM:618613 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hearing impairment, Blindness, Pigmentary retinopathy |
OMIM:560000 |
Late-Onset Retinal Degeneration |
|
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... |
ORPHA:67042 |
Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness |
OMIM:618345 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Reduced visual acuity, Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morpho... |
ORPHA:440727 |
Chromosome Xp11.3 Deletion Syndrome |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... |
OMIM:300578 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Cerebral atrophy, Optic atrophy, High myopia, Pat... |
OMIM:220500 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension |
OMIM:615506 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Joubert Syndrome 35 |
|
Progressive visual loss, Low-set ears, Nyctalopia, Rod-cone dystrophy |
OMIM:618161 |
Cone-Rod Dystrophy And Hearing Loss 2 |
|
Photophobia, Reduced visual acuity, High-frequency sensorineural hearing impairment |
OMIM:618358 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Progressive visual field defects, Cerebral cortical atrophy, Cerebral atrophy, Brain atrophy, EEG... |
ORPHA:79263 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... |
OMIM:305390 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Retinal degeneration, Rod-cone dystrophy, Nyctalopia |
OMIM:266500 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... |
OMIM:602772 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... |
ORPHA:436274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Blindness, Myopia |
OMIM:615181 |
Idiopathic Uveal Effusion Syndrome |
|
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... |
ORPHA:209956 |
Crouzon Syndrome |
|
Conductive hearing impairment, Amblyopia, Optic atrophy, Narrow internal auditory canal, Hearing ... |
ORPHA:207 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visua... |
OMIM:600132 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Hypermetropia, Protruding ear, Visual field defect, Abnormal helix morphology, Optic nerve hypopl... |
ORPHA:401777 |
Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia |
OMIM:616544 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Reduced visual acuity, Visual impairment |
OMIM:258501 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Retinitis Pigmentosa 56 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... |
OMIM:613581 |
Tritanopia |
|
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... |
ORPHA:88629 |
Stickler Syndrome, Type I |
|
Sensorineural hearing impairment, Conductive hearing impairment, Membranous vitreous appearance, ... |
OMIM:108300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
Blue Cone Monochromacy |
|
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... |
OMIM:303700 |
Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia |
OMIM:613093 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:364055 |
Refsum Disease |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, A... |
ORPHA:773 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... |
OMIM:613310 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
Leukoencephalopathy With Vanishing White Matter |
|
Optic atrophy, Blindness |
OMIM:603896 |
Retinitis Pigmentosa 43 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Opt... |
OMIM:613810 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
Sturge-Weber Syndrome |
|
Cerebral cortical atrophy, Abnormal retinal vascular morphology, Retinal detachment, Conjunctival... |
ORPHA:3205 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Vertigo, Hearing impairment, Cerebral cortical atrophy, Blindness |
ORPHA:3137 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Retinal dystrophy, Paten... |
OMIM:615147 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... |
OMIM:605750 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity |
OMIM:618970 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Visual field defect, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy, Abnorma... |
ORPHA:166035 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Fundus Albipunctatus |
|
Fundus albipunctatus, Nyctalopia, Retinal flecks |
OMIM:136880 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy, Nyctalopia |
OMIM:615982 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Blindness |
OMIM:617914 |
Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Hearing impairment, Retinal neovascularization, Myopia |
OMIM:619074 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Retinitis Pigmentosa |
|
Abnormality of fundus pigmentation, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral vi... |
OMIM:268000 |
Cone-Rod Dystrophy 8 |
|
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... |
OMIM:605549 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Facial palsy, Facial paralysis, Optic atrophy, Hearing impairment, Visual impairment |
OMIM:259700 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Hypermetropia, Protruding ear, Reduced visual acuity, Retinal detachment, Optic atrophy, Retinal ... |
OMIM:152950 |
Norrie Disease |
|
Sensorineural hearing impairment, Retinal detachment, Optic atrophy, Retinal fold, Blindness, Ret... |
OMIM:310600 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Retinal Cone Dystrophy 4 |
|
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... |
OMIM:610478 |
Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block |
OMIM:602668 |
Retinitis Pigmentosa 60 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:613983 |
Primary Angiitis Of The Central Nervous System |
|
Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Pseudopapilledema, Vertigo, Abn... |
ORPHA:140989 |
Hyperostosis Cranialis Interna |
|
Sensorineural hearing impairment, Reduced visual acuity, Tinnitus, Optic atrophy, Vestibular dysf... |
OMIM:144755 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... |
OMIM:210370 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Low-set, posteriorly rotated ears, Retinal dystrophy, Visual impairment, Aganglionic m... |
ORPHA:2318 |
Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Protruding ear, Blindness |
OMIM:618731 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Diffuse cerebellar atrophy, EEG abnormality, Cerebral atrophy, Abnorma... |
ORPHA:480898 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
EEG abnormality, Optic nerve hypoplasia, Reduced visual acuity, Abnormal best corrected visual ac... |
ORPHA:137902 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, R... |
OMIM:618173 |
Neurofibromatosis Type 2 |
|
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Diplopia, Bilateral ve... |
ORPHA:637 |
Cranioectodermal Dysplasia 4 |
|
Hypermetropia, Protruding ear, Nyctalopia, Rod-cone dystrophy, Visual impairment |
OMIM:614378 |
Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness |
ORPHA:436182 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Congenital blindness, Retinal detachment, Moderately reduced visual ... |
ORPHA:2788 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Cone-Rod Dystrophy 20 |
|