| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613582 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
| Optic Atrophy 2 |
|
Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia, Optic atrophy |
OMIM:136600 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy, Dysdiadochokinesis, Spastic ataxia |
OMIM:108650 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension, Papilledema |
OMIM:243200 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy, Inability to walk |
OMIM:615658 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Difficulty walking |
OMIM:617087 |
| Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Ventricular preexcitation, Retinal telangiectasia, Ataxia, Retinal vascular tortuo... |
ORPHA:104 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy, Unilateral ptosis |
OMIM:300928 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Ataxia, Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Spastic ataxia |
OMIM:613672 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
| Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy, Inability to walk |
OMIM:618572 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Arrhythmia, Limb dystonia |
OMIM:614860 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Chorioretinal coloboma, Optic atrophy |
ORPHA:2732 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Bradycardia |
OMIM:614654 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Retinal dystrophy, Optic atrophy |
OMIM:614706 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Ataxia, Optic atrophy, Spastic ataxia |
ORPHA:2572 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s... |
ORPHA:542306 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Ataxia, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... |
OMIM:616394 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Ptosis, Cardiomyopathy, Bradycardia, Sensory axonal neuropathy, Arrhythmia |
OMIM:609286 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Bradycardia |
OMIM:617248 |
| Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Ptosis |
OMIM:608747 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Leber Optic Atrophy |
|
Leber optic atrophy, Dystonia, Optic atrophy, Optic neuropathy, Ataxia, Central retinal vessel va... |
OMIM:535000 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Hemidystonia, Spastic gait, Bradykinesia |
OMIM:619052 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Peripheral demyelination, Optic atrophy, Optic neuritis |
OMIM:165200 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Atrioventricular block, Bradycardia, Truncal ataxia, Long eyebrows |
OMIM:614407 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Ataxia, Ina... |
OMIM:619389 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Lethargy |
ORPHA:95717 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Gait disturbance, Optic atrophy, Spastic ataxia |
OMIM:616859 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
| Usher Syndrome, Type Iiib |
|
Ataxia, Optic disc pallor, Truncal ataxia |
OMIM:614504 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Ataxia, Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
| Xq25 Microduplication Syndrome |
|
Highly arched eyebrow, Abnormality of the palpebral fissures, Epicanthus, Sparse eyebrow, Hyperac... |
ORPHA:521258 |
| Glaucoma-Related Pigment Dispersion Syndrome |
|
Optic atrophy |
OMIM:600510 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Unsteady gait, Ataxia, Wolff-Parkinson-White syndrome, Optic atrophy |
OMIM:614947 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Striatonigral Degeneration, Infantile |
|
Dystonia, Optic atrophy |
OMIM:271930 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Orbital craniosynostosis |
ORPHA:1538 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Long eyelashes, Wide nasal bridge, Long palpebral fissure |
ORPHA:411493 |
| Chromosome Xq25 Duplication Syndrome |
|
Highly arched eyebrow, Epicanthus, Sparse eyebrow, Hyperactivity, Thick eyebrow |
OMIM:300979 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
| Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Optic atrophy, Retinopathy |
ORPHA:385 |
| Joubert Syndrome 28 |
|
Highly arched eyebrow, Optic disc pallor, Wide nasal bridge, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy |
OMIM:614296 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Epicanthus, Bradycardia, Antecubital pterygium, Aplasia/Hypo... |
ORPHA:40366 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk |
ORPHA:431329 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Wide nasal bridge, Ataxia, Optic atrophy |
OMIM:300983 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Gait disturbance, Optic atrophy, Ataxia, Craniofacial dystonia |
OMIM:617282 |
| Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Loss of ability to walk, Diffic... |
OMIM:616812 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Optic atrophy |
OMIM:616881 |
| Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Spastic gait |
ORPHA:320396 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Wide nasal bridge, Epicanthus, Downslanted palpebral fissures |
OMIM:616803 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
| Camos Syndrome |
|
Ataxia, Optic atrophy |
ORPHA:83472 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Wide nasal bridge |
OMIM:609924 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Steppage gait, Difficulty walking |
OMIM:615035 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Absent eyebrow, Bradycardia, Paroxysmal supraventricular tachycardia, Short eye... |
OMIM:601375 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Lethargy |
OMIM:618228 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic atrophy, Optic disc pallor |
OMIM:615722 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Dystonia, Arrhythmia, Optic atrophy |
OMIM:614702 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Pigmentary retinopathy, Ataxia, Optic atrophy, Retinopathy |
OMIM:610951 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Optic atrophy |
ORPHA:1171 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Highly arched eyebrow, Epicanthus, Wide nasal bridge, Downslanted palpebral fissures, Hyperactivity |
OMIM:618342 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Paroxysmal atrial tachycardia, Retinal dystrophy, Cardiac arrest, Congestive heart... |
ORPHA:49827 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Epicanthus |
ORPHA:85288 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Clark-Baraitser Syndrome |
|
Narrow palpebral fissure, Upslanted palpebral fissure, Short nose, Epicanthus, Hyperactivity |
OMIM:617752 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Gait disturbance, Optic atrophy, Rod-cone dystrophy, Segmental peripheral d... |
OMIM:311070 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Spastic ataxia |
ORPHA:496756 |
| Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
| Merrf |
|
Ataxia, Optic atrophy |
ORPHA:551 |
| Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Short nose, Bradycardia |
OMIM:610015 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Peripheral axonal neuropathy, Difficulty walking |
ORPHA:468661 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia, Downslanted palpebral fissures |
OMIM:192445 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Inability to walk |
OMIM:617830 |
| Morm Syndrome |
|
Hyperactivity, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
| Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:617126 |
| Nescav Syndrome |
|
Optic atrophy, Inability to walk, Peripheral axonal neuropathy |
OMIM:614255 |
| Coffin-Siris Syndrome 8 |
|
Thick eyebrow, Hyperactivity, Long eyelashes, Ptosis |
OMIM:618362 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
| Blepharonasofacial Malformation Syndrome |
|
Optic atrophy, Sparse lateral eyebrow, Epicanthus, Telecanthus, Wide nasal bridge, Torsion dyston... |
ORPHA:1252 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait |
OMIM:613162 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonpr... |
OMIM:610198 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Optic atrophy, Bilateral ptosis, Sensory axonal neuropathy |
ORPHA:329314 |
| Tetanus |
|
Hypertension, Bradycardia, Tachycardia, Autonomic bladder dysfunction, Abnormal autonomic nervous... |
ORPHA:3299 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Optic atrophy, Dysmetria, Truncal ataxia, Episodic ataxia, Gait ataxia |
OMIM:601338 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait a... |
ORPHA:98890 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Lethargy |
OMIM:617397 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Bilateral ptosis, Motor axonal neuropathy, Absent brai... |
ORPHA:1215 |
| Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Retinal dystrophy, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morpho... |
ORPHA:1021 |
| Gand Syndrome |
|
Hyperactivity, Narrow palpebral fissure, Wide nasal bridge, Blepharophimosis |
OMIM:615074 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Ataxia, Optic atrophy |
ORPHA:85297 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fis... |
OMIM:617183 |
| Cednik Syndrome |
|
Optic atrophy, Downslanted palpebral fissures, Ataxia, Congestive heart failure, Abnormality of p... |
ORPHA:66631 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
| Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Optic atrophy, Bilateral ptosis, Inability to walk, Oculogyric crisis, Difficulty walking |
ORPHA:330050 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Bradycardia, Decreased nerve conduction velocity, Loss of ability to walk, Tip... |
ORPHA:565624 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Gait ataxia |
OMIM:619323 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Distichiasis |
OMIM:126320 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Ptosis, Shuffling gait, Cardiomyopathy, Bradykinesia, Optic neuritis, Sensory axon... |
ORPHA:254886 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Ataxia, Optic atrophy |
ORPHA:3151 |
| Glossopharyngeal Neuralgia |
|
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Schw... |
ORPHA:221098 |
| Behr Syndrome |
|
Dysmetria, Gait disturbance, Ataxia, Optic atrophy |
OMIM:210000 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Ataxia, Retinal degeneration, Optic atrophy, Bilateral ptosis |
OMIM:214980 |
| Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... |
ORPHA:209943 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dystonia, Optic atrophy, Wide nasal bridge, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity |
OMIM:248510 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Optic disc pallor, Retinal thinning |
OMIM:618970 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
| Craniodiaphyseal Dysplasia |
|
Optic atrophy, Wide nasal bridge |
ORPHA:1513 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Peho-Like Syndrome |
|
Optic atrophy, Short nose, Epicanthus |
OMIM:617507 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Broad-based gait |
OMIM:619470 |
| Gm1-Gangliosidosis, Type Ii |
|
Gait disturbance, Ataxia, Optic atrophy |
OMIM:230600 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Lethargy |
ORPHA:95716 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Epicanthus |
OMIM:309548 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Dystonia, Cardiomyopathy, Lethargy |
ORPHA:26792 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Peripheral axonal neuropathy, Optic atrophy |
OMIM:617207 |
| Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Ataxia, Peripheral axonal neuropathy, Difficulty walking |
OMIM:619425 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Epicanthus |
ORPHA:100973 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Optic atrophy |
OMIM:615338 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Optic atrophy, Oromandibular dystonia, Focal dystonia, Retinopathy, Limb dystonia |
ORPHA:216873 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Dystonia, Hypertrophic cardiomyopathy, Optic atrophy, Ptosis, Ataxia, Pig... |
OMIM:252011 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Leber Congenital Amaurosis 14 |
|
Retinal dystrophy, Optic disc pallor, Falls, Rod-cone dystrophy |
OMIM:613341 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy |
OMIM:616171 |
| Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Riboflavin Transporter Deficiency |
|
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Ptosis, Facial palsy, Ataxia,... |
ORPHA:97229 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Optic disc pallor, Progressive truncal ataxia, Ptosis, Dysmetria, Progressive gait ataxia, Progre... |
ORPHA:363429 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Abnormality of the optic nerve, Aplasia/Hypoplasia of the macula, Macular dystroph... |
ORPHA:33445 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ptosis, Ataxia |
OMIM:125250 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Optic atrophy, Papilledema, Wide nasal bridge |
OMIM:122860 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Dystonia, Optic atrophy, Ptosis, Progressive cerebellar ataxia, Pigm... |
ORPHA:255241 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:204200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Epicanthus |
OMIM:300434 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Inability to walk, Retinal vascular tortuosity |
OMIM:618768 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Highly arched eyebrow, Pulmonary arterial hypertension, Optic disc pallor |
OMIM:300887 |
| Mental Retardation, Autosomal Recessive 61 |
|
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:617773 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Peripheral axonal neuropathy, Ptosis, Ataxia, Difficulty walking |
ORPHA:401768 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Ataxia, Optic atrophy, Pulmonic stenosis |
ORPHA:3129 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Papilledema, Bradycardia |
OMIM:618775 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Ataxia, Optic disc pallor |
OMIM:616732 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Epicanthus, Wide nasal brid... |
ORPHA:352490 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Optic atrophy, Ptosis, Ataxia, Lethargy |
OMIM:618226 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory ax... |
ORPHA:457205 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Optic atrophy, Sparse eyelashes, Dysmetria, Short nose, Sparse eyebrow, Inability to wa... |
OMIM:617988 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Dystonia, Optic atrophy, Epicanthus, Ataxia, Unsteady gait |
OMIM:245349 |
| Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Short nose, Upslanted palpebral fissure, Synophrys |
OMIM:300143 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic atrophy, Inability to walk |
OMIM:617086 |
| Optic Atrophy 11 |
|
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia |
OMIM:617302 |
| Sclerosteosis |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:3152 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Wide nasal bridge |
OMIM:616977 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Optic atrophy, Broad-based gait, Spastic ataxia |
OMIM:270500 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
| Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Synophrys |
OMIM:615541 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Retinal degeneration, Optic atrophy, Macular degeneration |
OMIM:256730 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Inability to walk |
OMIM:618324 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... |
OMIM:164500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618229 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Mitral regurgitation, Ptosis, Steppage gait, Facial palsy, Bradykinesia, Cardiomyo... |
OMIM:258450 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity, Nasolacrimal duct ... |
ORPHA:440727 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal autonomic nervous system physiology, Reduced ejection fract... |
ORPHA:85451 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608553 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Wide nasal bridge, Synophrys |
OMIM:613192 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dysmetria, Dystonia, Optic disc pallor, Ataxia |
OMIM:617954 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Decreased sensory nerve cond... |
OMIM:229300 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Optic atrophy |
OMIM:258501 |
| Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Cone dystrophy |
OMIM:268040 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Optic disc pallor, Upslanted palpebral fissure, Short nose, Cardiomyopathy, Wide n... |
OMIM:618437 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor |
OMIM:612989 |
| Isolated Oxycephaly |
|
Papilledema |
ORPHA:63440 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Epicanthus, Upslanted palpebral fissure, Synophrys |
OMIM:615824 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Ataxia, Lethargy |
OMIM:614299 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cardiomyopathy, Ataxia, Cone/cone-rod dystrophy, Arrhythmia |
OMIM:249270 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
| Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Mi... |
OMIM:616648 |
| Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
| Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Downslanted palpebral fissures |
ORPHA:3173 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Dysmetria, Ataxia, Dysdiadochokinesis, Truncal ataxia, Gait ataxia |
OMIM:616204 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Optic atrophy, Ptosis |
OMIM:618238 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait |
OMIM:617865 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Abnormal nerve conduction velocity, Ataxia, Optic atrophy |
ORPHA:99014 |
| Filippi Syndrome |
|
Dystonia, Wide nasal bridge, Optic atrophy |
OMIM:272440 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
| Optic Atrophy 1 |
|
Ataxia, Optic atrophy |
OMIM:165500 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Dystonia, Peripheral demyelination, Optic atrophy |
OMIM:618237 |
| Infantile Refsum Disease |
|
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Arrhythmia |
ORPHA:772 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Dystonia, Optic atrophy |
OMIM:617669 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fis... |
ORPHA:496790 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hyperactivity, Telecanthus, Blepharophimosis, Ptosis |
ORPHA:397973 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
| Ck Syndrome |
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Hyperactivity, Almond-shaped palpebral fissure, Epicanthus, Upslanted palpebral fissure |
ORPHA:251383 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
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Optic atrophy, Peripheral demyelination, Gait ataxia, Broad-based gait |
OMIM:258650 |
| Beta-Propeller Protein-Associated Neurodegeneration |
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Optic atrophy, Dystonia, Bradykinesia, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
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Optic atrophy, Dystonia, Ptosis, Ataxia, Retinopathy |
OMIM:619422 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Hyperactivity, Telecanthus, Upslanted palpebral fissure, Epicanthus |
OMIM:615286 |
| Glaucoma 1, Open Angle, F |
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Increased cup-to-disc ratio |
OMIM:603383 |
| Hyperprolinemia, Type I |
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Hyperactivity, Ataxia |
OMIM:239500 |
| Spastic Paraplegia 2, X-Linked |
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Dysmetria, Optic atrophy, Spastic gait |
OMIM:312920 |
| Cone-Rod Dystrophy, X-Linked, 3 |
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Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... |
OMIM:300476 |
| Chromosome 2Q37 Deletion Syndrome |
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Highly arched eyebrow, Narrow palpebral fissure, Hyperactivity, Blepharophimosis, Arrhythmia |
OMIM:600430 |
| Developmental And Epileptic Encephalopathy 61 |
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Optic atrophy |
OMIM:617933 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Optic atrophy, Retinal detachment, Chorioretinal coloboma, Ptosis |
ORPHA:1473 |
| Woods Syndrome |
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Optic atrophy, Wide nasal bridge, Lingual dystonia |
OMIM:615236 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
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Optic atrophy, Optic disc pallor |
OMIM:618776 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Spastic Paraplegia Type 2 |
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Optic atrophy, Ataxia, Spastic gait, Pulmonary embolism |
ORPHA:99015 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Bradycardia, Tachycardia |
OMIM:614653 |
| Paragangliomas 3 |
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Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
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Upslanted palpebral fissure, Thick eyebrow, Optic atrophy, Synophrys |
OMIM:618737 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
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Gait disturbance, Optic disc pallor, Rod-cone dystrophy, Inability to walk, Tip-toe gait, General... |
ORPHA:216866 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
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Optic atrophy, Retinal fold, Upslanted palpebral fissure, Chorioretinal dysplasia, Epicanthus, Do... |
OMIM:152950 |
| Lipodystrophy, Congenital Generalized, Type 4 |
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Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia |
OMIM:613327 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
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Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
| Spinocerebellar Ataxia 13 |
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Optic atrophy, Limb dysmetria, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:605259 |
| Leber Optic Atrophy And Dystonia |
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Athetosis, Dystonia, Leber optic atrophy, Optic atrophy, Bradykinesia |
OMIM:500001 |
| Jalili Syndrome |
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Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Optic atrophy, Facial palsy |
ORPHA:178377 |
| Ck Syndrome |
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Hyperactivity, Almond-shaped palpebral fissure, Epicanthus, Upslanted palpebral fissure |
OMIM:300831 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity |
OMIM:619031 |
| Glycine Encephalopathy |
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Hyperactivity, Lethargy |
OMIM:605899 |
| Proximal Spinal Muscular Atrophy |
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Facial diplegia, Inability to walk, Bradycardia, Difficulty walking |
ORPHA:70 |
| Encephalitis Lethargica |
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Bradycardia, Lethargy |
ORPHA:83600 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Hypertension, Aganglionic megacolon, Short nose, Tachycardia, Abnormal autonomic nervous system p... |
OMIM:613870 |
| Mental Retardation, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
| 16P12.1P12.3 Triplication Syndrome |
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Short nose, Epicanthus, Tachycardia, Unilateral ptosis, Short palpebral fissure, Hyperactivity, T... |
ORPHA:485405 |
| Spastic Paraplegia 82, Autosomal Recessive |
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Optic atrophy |
OMIM:618770 |
| Rubinstein-Taybi Syndrome 2 |
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Hyperactivity, Long eyelashes, Downslanted palpebral fissures |
OMIM:613684 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Hypertrophic cardiomyopathy, Optic atrophy, Upslanted palpebral fissure, Short nose, Telecanthus,... |
OMIM:619383 |
| Spinocerebellar Ataxia Type 1 |
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Gait disturbance, Dystonia, Optic atrophy, Gait imbalance, Abnormality of somatosensory evoked po... |
ORPHA:98755 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
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Optic atrophy, Short nose, Epicanthus, Short palpebral fissure, Inability to walk, Blepharophimosis |
OMIM:613457 |
| Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia, Lethargy |
ORPHA:90673 |
| Pontocerebellar Hypoplasia, Type 9 |
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Optic atrophy, Peripheral axonal neuropathy, Downslanted palpebral fissures |
OMIM:615809 |
| Narp Syndrome |
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Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Progressiv... |
ORPHA:644 |
| Peroxisome Biogenesis Disorder 8B |
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