Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy |
OMIM:607541 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst |
OMIM:251505 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... |
OMIM:278730 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... |
ORPHA:86812 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea |
OMIM:617272 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... |
OMIM:602562 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... |
OMIM:615418 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:615355 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Kid Syndrome |
|
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... |
ORPHA:477 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... |
OMIM:152950 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Telecanthus |
OMIM:615458 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea... |
OMIM:618175 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe... |
ORPHA:1234 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis, Ectr... |
OMIM:308800 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Apolipoprotein A-I Deficiency |
|
Xanthelasma, Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Flat cornea, Ptosis |
OMIM:618283 |
Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... |
ORPHA:3163 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... |
ORPHA:746 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Bilateral ptosis, Corneal neovascularization, Corneal scarring, Lagophthalmos |
ORPHA:404454 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow... |
ORPHA:284160 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity |
OMIM:166300 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Abnormal eyelid morphology, Upsla... |
ORPHA:567 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... |
OMIM:619698 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr... |
OMIM:616564 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Heart murmur |
ORPHA:1867 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension |
ORPHA:320 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... |
OMIM:619487 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology |
ORPHA:2095 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Keratitis, Absent eyelashes, Hypertension, Opacification of the corneal stroma, R... |
OMIM:308205 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Oculocerebrocutaneous Syndrome |
|
Eyelid coloboma, Corneal opacity, Iris coloboma, Ptosis |
ORPHA:1647 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... |
OMIM:212140 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... |
ORPHA:254892 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul... |
OMIM:619148 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Brushfield spots, Upslanted palpebral fissure, Posterior e... |
ORPHA:912 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Thick eyebrow |
ORPHA:585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:309288 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar... |
OMIM:300952 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly |
OMIM:269920 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... |
ORPHA:141099 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, P... |
OMIM:612582 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Abnormal left ventricular function, Astigmatism, Pulmonic stenosis,... |
OMIM:301056 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity, Downslanted palpebral fissures |
ORPHA:2409 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract |
ORPHA:93400 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:614230 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Iris hypopigmentation, Ocular albinism, Ectropion |
ORPHA:2719 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Cystinosis |
|
Corneal opacity, Portal hypertension |
ORPHA:213 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
ORPHA:364577 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia |
OMIM:103420 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly |
ORPHA:31150 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea |
OMIM:613001 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia |
ORPHA:42 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Bilateral ptosis, Cardiomyopathy, Mitral regurgitation, Op... |
OMIM:607014 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Opacificati... |
OMIM:214110 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Blepharitis, Ptosis |
ORPHA:570 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro... |
ORPHA:1830 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma |
OMIM:601853 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy, Hypertension |
OMIM:209900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Atrial septal defect, Left ve... |
OMIM:613610 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Synophrys, Upslanted palpebral fissure, Pulmonic stenosis, Thick eye... |
ORPHA:488632 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Cryptophthalmos |
ORPHA:920 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Epicanthus, Corneal opacity, Thick eyebrow |
OMIM:253220 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis ... |
ORPHA:495875 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Corneal opacity, Cardiomyopathy |
ORPHA:354 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re... |
OMIM:619127 |
De Barsy Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Cataract, Corneal opacity |
ORPHA:2962 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Microcornea, Eyelid coloboma, Astigmatism, Opacification o... |
OMIM:600268 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Cardiomyopathy, Hypertension, Thick eyebrow |
ORPHA:93473 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... |
ORPHA:46059 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retin... |
ORPHA:464 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... |
ORPHA:42775 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Patent ductus arteriosus, Abn... |
ORPHA:284984 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... |
OMIM:612289 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
Mosaic Trisomy 9 |
|
Upslanted palpebral fissure, Corneal opacity |
ORPHA:99776 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity, Shallow orbits |
OMIM:601812 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... |
OMIM:602782 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Distal Deletion 12Q |
|
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... |
ORPHA:96149 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... |
OMIM:263650 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Keratitis, Ankylobl... |
ORPHA:910 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Downslanted palpebral fissures |
ORPHA:1052 |
Chime Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Ptosis |
ORPHA:3474 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma |
ORPHA:2092 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, ... |
ORPHA:2556 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Highly arched eyebrow, Mitral regurgitation, Ast... |
ORPHA:309282 |
Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Microcornea, Pulmonic stenosis, Opacification of the corneal stroma |
OMIM:201000 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... |
OMIM:253200 |
Mucopolysaccharidosis Type 1 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity |
ORPHA:579 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
OMIM:608670 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... |
OMIM:220111 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo... |
ORPHA:536471 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... |
OMIM:309801 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Synophrys, Atrioventricular block, Reduced left ventricular ejection f... |
ORPHA:581 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol... |
ORPHA:2273 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Pat... |
OMIM:613795 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor... |
OMIM:242900 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Narrow palpebral fissure, Cataract, Sclerocornea |
OMIM:619869 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Absent eyebrow, Corneal opacity, Mitral stenosis, Angina pectoris, Nocturna... |
ORPHA:740 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnor... |
ORPHA:228308 |
Sickle Cell Disease |
|
Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity, Ptosis |
OMIM:615273 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464311 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Kindler Epidermolysis Bullosa |
|
Ectropion, Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464306 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ... |
OMIM:219000 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Ptosis |
OMIM:251300 |
Larsen Syndrome |
|
Corneal opacity, Shallow orbits |
OMIM:150250 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Opacification of the corneal... |
OMIM:214100 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... |
ORPHA:90348 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Abnormal eyelid morphology, Hypertension, Lisch nodules, Heterochromia... |
ORPHA:636 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Brushfield ... |
OMIM:614866 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma |
ORPHA:1692 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Megalocornea, Downslanted palpebral fissures, Ir... |
ORPHA:280 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Ptosis |
OMIM:274000 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... |
ORPHA:2463 |
Lathosterolosis |
|
Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Upslanted palpebral fissure, L... |
ORPHA:534 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Epicanthus, Palpebral edema, Sparse eyebrow, Congestive heart failure, Hear... |
OMIM:252500 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Upslanted palpebral fissure, Pulmonic stenosis, Peters an... |
ORPHA:709 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Abnormal eyelash morphology, Upslanted palpebral fissure, Dow... |
ORPHA:818 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension, Ptosis |
ORPHA:2072 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Hereditary Acrokeratotic Poikiloderma |
|
Ectropion, Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Williams Syndrome |
|
Epicanthus, Flat cornea, Corneal opacity, Cataract, Sudden cardiac death, Myocardial infarction, ... |
ORPHA:904 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:217085 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:217093 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Corneal opacity, Hypertension |
ORPHA:580 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia |
ORPHA:96191 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Meckel Syndrome |
|
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Short palpebral fissure, Opacification of the corneal stroma |
OMIM:601559 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis |
OMIM:618278 |
Ogden Syndrome |
|
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... |
OMIM:300855 |
Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Renovascular hypertension, Upslanted pa... |
ORPHA:3472 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Corneal opacity |
ORPHA:355 |
Bohring-Opitz Syndrome |
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Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Wiedemann-Rautenstrauch Syndrome |
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Cataract, Corneal opacity, Entropion, Lagophthalmos, Synophrys, Upslanted palpebral fissure, Pulm... |
ORPHA:3455 |
Wilson Disease |
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Kayser-Fleischer ring |
OMIM:277900 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Corneal opacity, Cerebral hemorrhage |
ORPHA:666 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Eyelid coloboma, Opacification of the corneal stroma, Shallow orbits, ... |
OMIM:268300 |
Cockayne Syndrome B |
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Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacification of the c... |
OMIM:133540 |
Abetalipoproteinemia |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
Fryns Syndrome |
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Blepharophimosis, Narrow palpebral fissure, Opacification of the corneal stroma |
OMIM:229850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
Cockayne Syndrome A |
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Hypertension, Arrhythmia, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... |
OMIM:256040 |
Aicardi-Goutières Syndrome |
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Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... |
ORPHA:51 |
Digeorge Syndrome |
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Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Sclerocornea |
OMIM:188400 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Microphthalmia, Syndromic 6 |
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Microcornea, Orbital cyst, Sclerocornea |
OMIM:607932 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Yunis-Varon Syndrome |
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Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Heart murmur, Upslanted pal... |
OMIM:216340 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |