Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Retinal dysplasia, Coloboma |
ORPHA:324416 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Spina bifida, Retinal degeneration |
OMIM:311000 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Coloboma |
OMIM:614465 |
Diprosopus |
|
Abnormality of retinal pigmentation, Anencephaly |
ORPHA:1681 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Coloboma |
OMIM:602499 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Umbilical hernia, Chorioretinal coloboma |
ORPHA:2196 |
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 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... |
OMIM:618052 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Hydrocephalus, Retinal detachment, Coloboma |
OMIM:613153 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... |
ORPHA:2481 |
Coach Syndrome 2 |
|
Hydrocephalus, Chorioretinal coloboma, Coloboma |
OMIM:619111 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma |
OMIM:274270 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Leber Congenital Amaurosis 9 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... |
OMIM:608553 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:397951 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Coloboma |
ORPHA:141333 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Joubert Syndrome 14 |
|
Coloboma, Hydrocephalus, Morning glory anomaly, Encephalocele |
OMIM:614424 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... |
OMIM:610198 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy |
ORPHA:1466 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... |
OMIM:310300 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Joubert Syndrome 22 |
|
Retinal dysplasia, Coloboma |
OMIM:615665 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Mental Retardation Syndrome, Belgian Type |
|
Coloboma |
OMIM:249599 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Anterior encephalocele, Holoprosencephaly |
OMIM:601357 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:858 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Occipital enc... |
ORPHA:370959 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Retinal degeneration, Coloboma |
OMIM:615249 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Coloboma |
OMIM:136760 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
2Q24 Microdeletion Syndrome |
|
Coloboma |
ORPHA:1617 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida, Chorioretinal coloboma |
OMIM:600122 |
Srd5A3-Cdg |
|
Spotty hyperpigmentation, Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia |
ORPHA:324737 |
Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Zika Virus Disease |
|
Absent foveal reflex, Miscarriage, Retinal pigment epithelial mottling, Chorioretinal atrophy, Ir... |
ORPHA:448237 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Coloboma |
OMIM:610023 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Amish Lethal Microcephaly |
|
Optic atrophy, Spina bifida, Death in infancy |
ORPHA:99742 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Coloboma |
OMIM:120433 |
Cirrhotic Cardiomyopathy |
|
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... |
ORPHA:57777 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Aqueductal stenosis |
ORPHA:1496 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Narp Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... |
ORPHA:644 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... |
ORPHA:79432 |
Coach Syndrome 1 |
|
Optic disc pallor, Encephalocele, Occipital encephalocele, Coloboma |
OMIM:216360 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy |
OMIM:612291 |
Neonatal Lupus Erythematosus |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... |
ORPHA:398124 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Microphthalmia, Syndromic 13 |
|
Coloboma |
OMIM:300915 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Treacher Collins Syndrome 3 |
|
Coloboma |
OMIM:248390 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Retinal atrop... |
OMIM:236670 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Otodental Dysplasia |
|
Coloboma |
OMIM:166750 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Abnormality of skin pigmentation, Coloboma |
OMIM:612379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Death in adolescence, Pigmentary retinopathy |
OMIM:619059 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Holoprosencephaly |
ORPHA:2163 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... |
ORPHA:3093 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Coloboma |
OMIM:220210 |
Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia, Holoprosencephaly |
OMIM:147250 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Treacher Collins Syndrome 2 |
|
Coloboma |
OMIM:613717 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Death in childhood |
OMIM:619517 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Aniridia, Hypoplasia of the fovea, Coloboma |
ORPHA:2334 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Coloboma |
ORPHA:94065 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Waardenburg Syndrome Type 1 |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Meningocele, Whit... |
ORPHA:894 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:609033 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma |
OMIM:617695 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... |
OMIM:255160 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... |
ORPHA:5 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida |
ORPHA:1104 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Coloboma, Retinal... |
ORPHA:85167 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of the skin, O... |
ORPHA:1493 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:585 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Coloboma |
ORPHA:329224 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma, Spina bifida |
ORPHA:2839 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
Marcus-Gunn Syndrome |
|
Morning glory anomaly, Coloboma |
ORPHA:91412 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Baraitser-Winter Syndrome 2 |
|
Coloboma |
OMIM:614583 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation |
OMIM:108145 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... |
ORPHA:26793 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Blue irides, Partial albinism, White eyebrow, White eyelashes, Heterochromia ir... |
OMIM:193500 |
Mulibrey Nanism |
|
Iris coloboma, Pigmentary retinopathy |
OMIM:253250 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Death in childhood, Death in adolescence, Pigmentary ... |
OMIM:560000 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration |
ORPHA:79264 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Coloboma |
OMIM:618659 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma |
ORPHA:464288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma |
OMIM:619318 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Holoprosencephaly, Anencephaly, Iris coloboma, Cyclopia, Spi... |
ORPHA:3380 |
Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure |
OMIM:310200 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Melanocytic nevus, Spina bifida |
ORPHA:1327 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy |
OMIM:268100 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Verheij Syndrome |
|
Coloboma |
OMIM:615583 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Retinal dystrophy, Coloboma |
OMIM:610125 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Hydrocephalus, Abnormality of retinal pigmentation, Umbilical hernia |
OMIM:309900 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma |
OMIM:616789 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... |
OMIM:170390 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Coloboma, Optic atrophy, Retinal a... |
OMIM:253280 |
Familial Multiple Lipomatosis |
|
Chorioretinitis, Coloboma |
ORPHA:199276 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia, Coloboma, Iris coloboma, Abnormal optic disc morphology... |
ORPHA:508498 |
Neurooculocardiogenitourinary Syndrome |
|
Coloboma |
OMIM:618652 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Pigmentary retinopathy, Umbilical hernia |
OMIM:612582 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... |
ORPHA:2715 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:300578 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma |
OMIM:167730 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
Micro Syndrome |
|
Retinal coloboma, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2510 |
Ethylene Glycol Poisoning |
|
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... |
ORPHA:31826 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Death in infancy |
ORPHA:1120 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Hy... |
OMIM:616878 |
Cohen Syndrome |
|
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... |
OMIM:216550 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:88628 |
Cree Mental Retardation Syndrome |
|
Coloboma |
OMIM:606851 |
Stevenson-Carey Syndrome |
|
Coloboma |
OMIM:611961 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Prolonged QT interval, Arrhythmia |
ORPHA:480864 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma |
OMIM:617306 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Branchio-Oculo-Facial Syndrome |
|
Iris coloboma, Premature graying of hair, Coloboma |
ORPHA:1297 |
Thyrotoxic Periodic Paralysis |
|
Palpitations, Shortened PR interval, Second degree atrioventricular block, Ventricular fibrillati... |
ORPHA:79102 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Prolonged QT interval |
ORPHA:66634 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy |
ORPHA:71212 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
Werner Syndrome |
|
White forelock, Premature graying of hair, Miscarriage, Abnormality of retinal pigmentation |
ORPHA:902 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Abnormality of the optic nerve, Spina bifida |
ORPHA:3412 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Death in infancy, Meningocele, Spina bifida |
ORPHA:1393 |
Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Chorioretinal coloboma |
ORPHA:959 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Iris coloboma, Abnormality of skin pigmentati... |
ORPHA:193 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Arrhythmia, Abnormal EKG, Postural hypotension with compensato... |
ORPHA:85443 |
Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension |
OMIM:263800 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Death in early adulthood |
ORPHA:192 |
Pagod Syndrome |
|
Optic atrophy, Death in infancy, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
Gitelman Syndrome |
|
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... |
ORPHA:358 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Coloboma |
OMIM:163200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy,... |
ORPHA:79282 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
2Q31.1 Microdeletion Syndrome |
|
Iris coloboma, Optic disc coloboma, Coloboma |
ORPHA:251014 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:614866 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Death in childhood, Pigmentary retinopathy |
OMIM:220110 |
Acrocallosal Syndrome |
|
Optic atrophy, Hypopigmentation of the fundus, Umbilical hernia, Coloboma |
OMIM:200990 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Coloboma, Branchial anomaly |
ORPHA:453499 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Coloboma, Abnormality of the optic nerve, Optic nerve hypoplasia, Branchial anomaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Coloboma, Abnormality of the optic nerve, Optic nerve hypoplasia, Branchial anomaly |
ORPHA:352665 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... |
ORPHA:63259 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Abnormality of retinal pigmentation |
ORPHA:175 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Coloboma |
ORPHA:251028 |
Curry-Jones Syndrome |
|
Coloboma |
OMIM:601707 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Pigmentary retinopathy |
OMIM:277400 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Retinal degeneration, Abnormal foveal morphology, Papilledem... |
ORPHA:580 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... |
ORPHA:157850 |
Fanconi Anemia, Complementation Group D2 |
|
Cafe-au-lait spot, Hydrocephalus, Abnormality of skin pigmentation, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Aicardi Syndrome |
|
Retinal detachment, Optic disc coloboma, Optic atrophy, Chorioretinal lacunae, Spina bifida |
OMIM:304050 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:505248 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Abnormality of retinal pigmentation, Hypopigmented skin patches, Retinal dystrophy... |
ORPHA:2556 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy, Coloboma |
ORPHA:97297 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Right ventricular failure, Pa... |
ORPHA:70591 |
Focal Dermal Hypoplasia |
|
Iris coloboma, Abnormality of skin pigmentation, Umbilical hernia, Spina bifida, Chorioretinal co... |
ORPHA:2092 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Orthostatic hypotension, Abnormal EKG, Syncope |
ORPHA:230 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... |
ORPHA:466650 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Cardiac Diverticulum |
|
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... |
ORPHA:1686 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Pigmentary retinopathy, Iris coloboma |
OMIM:309801 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block |
ORPHA:268 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma |
ORPHA:2399 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Freckling, Pigmentary retinopathy |
OMIM:610651 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Neurofibromatosis Type 1 |
|
Hydrocephalus, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Freckling, Het... |
ORPHA:636 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... |
ORPHA:1969 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG |
ORPHA:93400 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
Hallermann-Streiff Syndrome |
|
Iris coloboma, Spina bifida, Optic disc coloboma, Chorioretinal coloboma |
OMIM:234100 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... |
ORPHA:2526 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Dextrocardia |
|
T-wave inversion, Abnormal EKG |
ORPHA:1666 |
Autosomal Dominant Cerebellar Ataxia |
|
Pigmentary retinopathy, Retinal degeneration, Macular degeneration |
ORPHA:99 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Death in childhood, Brushfield spots, Pigmentary retinopathy |
OMIM:214100 |
Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, U... |
ORPHA:581 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy |
OMIM:240300 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
|