| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... |
OMIM:604393 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... |
OMIM:613835 |
| Corneal Dystrophy, Congenital Stromal |
|
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... |
OMIM:204100 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... |
OMIM:614170 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... |
OMIM:608553 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... |
OMIM:193230 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... |
OMIM:217800 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Cerebellar hypopl... |
OMIM:616276 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Dentinogenesis imperfecta, Abnormal cornea morphology, Atypical scarring of skin, De... |
OMIM:229200 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... |
OMIM:204000 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... |
OMIM:613310 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... |
OMIM:610202 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrop... |
OMIM:115210 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... |
ORPHA:190 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity |
ORPHA:90654 |
| Birdshot Chorioretinopathy |
|
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... |
ORPHA:179 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... |
OMIM:614292 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... |
OMIM:600059 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... |
OMIM:616188 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Keratoconus Posticus Circumscriptus |
|
Central posterior corneal opacity, Keratoconus, Cleft palate, Cleft upper lip |
OMIM:244600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Cerebellar atro... |
OMIM:614654 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Increased endomysial connective ... |
OMIM:620265 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... |
ORPHA:45453 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... |
OMIM:615770 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Dandy-Walker Syndrome |
|
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Otodental Syndrome |
|
Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ... |
ORPHA:2791 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
| Atrial Standstill 1 |
|
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... |
OMIM:108770 |
| Neovascular Glaucoma |
|
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... |
ORPHA:94058 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Cataract |
OMIM:603165 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Brittle Cornea Syndrome |
|
Abnormality of the dentition, Corneal scarring, Hernia, Decreased corneal thickness, Camptodactyl... |
ORPHA:90354 |
| Sveinsson Chorioretinal Atrophy |
|
Peripapillary chorioretinal atrophy, Astigmatism |
OMIM:108985 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Insulin-resistant diabetes mellitus, Hypoplasia of the tooth germ, Micrognathia, Con... |
ORPHA:293967 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Development... |
OMIM:147630 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic card... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... |
OMIM:261740 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Bradycardia |
OMIM:609924 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Retinal fold, Keratoglobus |
OMIM:108145 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D... |
OMIM:180900 |
| Lipoyltransferase 1 Deficiency |
|
Ventriculomegaly, Pulmonary arterial hypertension, Cerebellar atrophy, Bradycardia |
OMIM:616299 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... |
OMIM:212138 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... |
ORPHA:263297 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... |
OMIM:616468 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Smooth philtrum, Irregularly spaced teeth, Short philtrum, Cleft palate |
ORPHA:289522 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy |
OMIM:267760 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia |
OMIM:614702 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Retinitis Pigmentosa |
|
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Attenuation of retinal blood vessels,... |
ORPHA:791 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... |
OMIM:609040 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation, Cerebral hemorrhag... |
OMIM:617397 |
| Exudative Vitreoretinopathy 4 |
|
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... |
OMIM:601813 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... |
OMIM:617304 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Coats Disease |
|
Leukocoria, Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... |
OMIM:609286 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar ver... |
OMIM:220220 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Neonatal death, Bradycardia, Camptodactyly, Flexion contracture |
OMIM:610015 |
| Greig Cephalopolysyndactyly Syndrome |
|
Keratoconus, Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cam... |
OMIM:175700 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
| Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
| Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... |
ORPHA:83461 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Cerebellar hypoplasia, Atrioventricular block, Joint contracture of the 5th finger, Bradycardia |
OMIM:614407 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A... |
OMIM:232500 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Scarring alopecia of scalp, Carious teeth |
OMIM:619787 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Calf muscle pseudohypertrophy, Occipital encephalocele, Hypoplasia of the pons,... |
ORPHA:370959 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... |
OMIM:212550 |
| Norrie Disease |
|
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... |
OMIM:310600 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:95717 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Glycogen Storage Disease Xv |
|
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... |
OMIM:613507 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... |
OMIM:617751 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Pulmonary arterial hypertension, B... |
OMIM:619272 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Short Syndrome |
|
Insulin resistance, Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the... |
ORPHA:3163 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... |
OMIM:615616 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Foot dorsiflexor weakness, Torticollis |
OMIM:619054 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect |
OMIM:126320 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Dental crowding, Elbow flexion contracture, Gingival ove... |
OMIM:618175 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... |
OMIM:618775 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Costello Syndrome |
|
Keratoconus, Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morp... |
ORPHA:3071 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ... |
ORPHA:261183 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Keratitis, Increased connective tissue, Punctate keratitis, Scarring alopecia of s... |
OMIM:226670 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Situs inversus totalis, Patent foramen ov... |
OMIM:620642 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Gapo Syndrome |
|
Keratoconus, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Micrognathia, Abnormal p... |
ORPHA:2067 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures ... |
ORPHA:2457 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Cerebellar hypoplasia, Dilated fourth ventricle, Arrhythmia |
OMIM:620208 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle |
OMIM:615771 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Arterial Tortuosity Syndrome |
|
Bifid uvula, Keratoconus, Long philtrum, Umbilical hernia, Micrognathia, Astigmatism, Malar flatt... |
OMIM:208050 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Abnormal cerebellum morphology, Cerebellar hypoplasia, Limb hyperto... |
ORPHA:565624 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... |
OMIM:614831 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... |
OMIM:619167 |
| Short Syndrome |
|
Insulin resistance, Cataract, Dental malocclusion, Downturned corners of mouth, Insulin-resistant... |
OMIM:269880 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst |
OMIM:615960 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Joint contracture, Bradycardia |
OMIM:614498 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Cerebellar hypoplasia, Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:213200 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... |
ORPHA:1880 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Down Syndrome |
|
Keratoconus, Cataract, Abnormality of the dentition, Downturned corners of mouth, Thick lower lip... |
ORPHA:870 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Contractures of the large joints, Dilated fourth ventricle, Ventric... |
ORPHA:3078 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... |
ORPHA:364055 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hypotension, Shock, Bradycardia |
ORPHA:391673 |
| Gapo Syndrome |
|
High, narrow palate, Keratoconus, Eruption failure, Long philtrum, Megalocornea, Thick lower lip ... |
OMIM:230740 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:226313 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperglycemia, Hyperin... |
OMIM:608612 |
| Alagille Syndrome |
|
Keratoconus, Micrognathia, Abnormal pupil morphology, Short philtrum, Corneal dystrophy |
ORPHA:52 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:95716 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Displacement of the papi... |
ORPHA:1329 |
| Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Mandibular prognathia, Widely spaced teeth, Protruding tongue... |
ORPHA:72 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Cleft upper lip, Lester's sign, Antecubital pterygium, Microp... |
OMIM:161200 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... |
OMIM:614653 |
| Glossopharyngeal Neuralgia |
|
Chiari type I malformation, Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Microdontia, A... |
ORPHA:231178 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Ventriculomegaly, Congenital contracture, Cerebellar atrophy, Sinus bradycardia, Joint contractur... |
OMIM:618397 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Ventriculomegaly, Cerebellar atrophy, Dilated fourth ventricle, Pontocerebellar atrophy, Cerebell... |
OMIM:620428 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:613443 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Carious teeth, Keratitis, Scarring alopecia of scalp, Enamel hypoplasia, Conjunctivitis |
OMIM:612843 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Keratoconus |
OMIM:242150 |
| Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Micr... |
ORPHA:2363 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Brady... |
ORPHA:97297 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Median cleft palate, Malar flattening, Inguinal hernia, Femoral hernia, Hiatus herni... |
ORPHA:3342 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:1170 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Camptodactyly, Anenceph... |
OMIM:614175 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:251347 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, Cardiac ar... |
OMIM:277400 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... |
ORPHA:572798 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ventricular septal defect, Cerebellar hyp... |
OMIM:619306 |
| Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dilated fourth ventricle, Elongat... |
OMIM:610688 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ventriculomegaly |
ORPHA:171680 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:90673 |
| Zaki Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Congenital diaphragmatic hernia, Patent f... |
OMIM:619648 |
| Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... |
ORPHA:94093 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Cerebellar malformation, Dilated fourth ventricle, Abnormal cerebel... |
ORPHA:357058 |
| Aniridia 1 |
|
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hypoplasia of the iris, Ectopia pup... |
OMIM:106210 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Microcornea, Dental crowding, Inguinal hernia |
OMIM:225400 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cardiomyopathy, Dilated fourth ventricle, Cereb... |
OMIM:212065 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Neonatal death, Hypoplasia of the diaph... |
OMIM:614437 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... |
ORPHA:980 |
| Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Distal amyotrophy, Cerebellar atrophy, Olivopontocerebellar atrophy |
OMIM:183090 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:90674 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Ventriculomegaly, Bradycardia |
OMIM:617248 |
| Spinocerebellar Ataxia 1 |
|
Distal amyotrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Olivopontocerebellar atroph... |
OMIM:164400 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Abnormal cerebellum morphology, Umbilical hernia, Bradycardia |
ORPHA:226307 |
| Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy |
ORPHA:276241 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth v... |
OMIM:619869 |
| Machado-Joseph Disease |
|
Dilated fourth ventricle, Distal amyotrophy, Cerebellar atrophy |
OMIM:109150 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, ... |
OMIM:615574 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Keratoconus, Atypical scarring of skin, Dental crowding, Umbilical hernia, G... |
ORPHA:285 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Distal lower limb amyotrophy, Cerebellar atrophy, Skeletal muscle atrophy |
ORPHA:276244 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Keratoconus, Abnormality of the dentition, Carious teeth, Periodontitis, Cig... |
ORPHA:286 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Bradycardia |
OMIM:218700 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... |
OMIM:142900 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Periodontitis, Cigarette-paper scars, Cystocele, Inguinal hernia, Uterine prolapse, ... |
OMIM:130050 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Cerebellar hypoplasia, Dilated fourth ventricle, Hypoplasia of the pons |
OMIM:300749 |
| Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
| Meckel Syndrome, Type 1 |
|
Ventriculomegaly, Chiari malformation, Occipital encephalocele, Camptodactyly of finger, Dilated ... |
OMIM:249000 |
| Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... |
ORPHA:3384 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Right ventricular fail... |
ORPHA:99125 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Occipital meningocele, Agenesis of cerebe... |
OMIM:243910 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation, Ventricular septal ... |
ORPHA:434179 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cardiomyopathy, Dilated fourth ventricle, Cerebel... |
ORPHA:480880 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy |
ORPHA:68 |
