Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dsc2 MGI:103221

Gene Summary

Name:

desmocollin 2

Synonyms:

Dsc2b, Dsc2a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
corneal opacity	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	2.07×10^-15
abnormal cornea morphology	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	6.60×10^-12
corneal vascularization	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	5.76×10^-17
narrow eye opening	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	7.71×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images

Legacy Phenotype Associated Images

Dsc2^{tm1e(KOMP)Wtsi}
HOM, Male, WTSI

View all 65 images

Dsc2^{tm1e(KOMP)Wtsi}
Corneal ulceration, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
abnormal cornea morphology, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
Corneal ulceration, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
Fused cornea and lens, HOM, Female, WTSI

View all 20 images

Human diseases caused by Dsc2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dsc2 (1 diseases)
Human diseases predicted to be associated with Dsc2 (543 diseases)

The table below shows human diseases associated to Dsc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11		Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476

The table below shows human diseases predicted to be associated to Dsc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Morquio Syndrome C	Corneal opacity	OMIM:252300
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal...	OMIM:608470
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Microphthalmia/Coloboma 4	Microcornea, Orbital cyst	OMIM:251505
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Galactosialidosis	Corneal opacity	ORPHA:351
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Microphthalmia, Syndromic 16	Sclerocornea, Ankyloblepharon	OMIM:611038
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Bilateral ptosis, Aniridia, C...	OMIM:106210
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr...	OMIM:278730
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma	ORPHA:1473
Winchester Syndrome	Corneal opacity	OMIM:277950
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy...	OMIM:540000
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep...	OMIM:619048
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity	ORPHA:1532
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Generalized Eruptive Keratoacanthoma	Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Cataract 47	Cataract, Microcornea	OMIM:612018
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization	OMIM:617388
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissure, Corneal opacity...	OMIM:602562
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ...	OMIM:158310
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opac...	ORPHA:1794
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium	OMIM:619339
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental cataract, Corneal...	OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo...	OMIM:613156
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Kid Syndrome	Sparse eyebrow, Posterior blepharitis, Keratitis, Aplastic/hypoplastic lacrimal glands, Corneal n...	ORPHA:477
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys...	ORPHA:2299
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted...	OMIM:152950
Microphthalmia/Coloboma 9	Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ...	OMIM:615145
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis	OMIM:602400
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ...	ORPHA:169186
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Telecanthus, Posterior subcapsular cataract	OMIM:615458
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity	OMIM:620469
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo...	OMIM:205400
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Warburg-Cinotti Syndrome	Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Epicanthus, Blepharophimos...	OMIM:618175
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity	ORPHA:1064
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Bartsocas-Papas Syndrome	Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelash...	ORPHA:1234
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Developmental cataract, Corneal opacity	OMIM:617183
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Telecanthus,...	ORPHA:2399
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Cantu Syndrome	Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten...	ORPHA:251274
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Lacrimoauriculodentodigital Syndrome	Abnormal lacrimal duct morphology, Lacrimal duct aplasia, Hypoplasia of the lacrimal punctum, Lim...	ORPHA:2363
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Congenital Fibrinogen Deficiency	Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:335
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	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	Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Blepharitis, Keratitis, Sparse eyelashes, Ectropion, Conjunctivitis, Corneal dyst...	OMIM:308800
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro...	OMIM:301500
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary...	OMIM:221900
Hurler-Scheie Syndrome	Cardiomyopathy, Corneal opacity	ORPHA:93476
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Visual Impairment And Progressive Phthisis Bulbi	Flat cornea, Ptosis	OMIM:618283
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Ischemic stroke, Astigmatism, Corneal neov...	OMIM:175780
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal scarring, Corneal neovascularization, Lagophthalmos, Bilateral ptosis	ORPHA:404454
Apolipoprotein A-I Deficiency	Angina pectoris, Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Short Syndrome	Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Posterior embryotox...	ORPHA:3163
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Cataract, Upslanted palpebral fissure, Corneal opacity	ORPHA:496790
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:230851
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi...	ORPHA:746
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Epicanthus, Ptosis, Blepharophim...	ORPHA:284160
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Sialidosis Type 2	Corneal opacity	ORPHA:87876
22Q11.2 Deletion Syndrome	Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Downslanted palpebral fissures, Telec...	ORPHA:567
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M...	OMIM:616564
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit...	OMIM:619698
Wagro Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Ptosis, Corneal opacity, Hypertension	OMIM:612469
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea	OMIM:615877
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Keratoglobus	OMIM:229200
Hereditary Bullous Dystrophy, Macular Type	Cataract, Heart murmur, Corneal opacity	ORPHA:1867
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Mietens Syndrome	Sclerocornea, Cataract, Microcornea, Corneal opacity	ORPHA:2557
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e...	ORPHA:96125
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity	OMIM:607016
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension	ORPHA:320
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm...	ORPHA:91495
3Mc Syndrome 3	Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus	OMIM:248340
Hepatic Lipase Deficiency	Angina pectoris, Corneal arcus	OMIM:614025
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Left ventricular hy...	OMIM:619487
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Lcat Deficiency	Corneal opacity	ORPHA:650
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Upper eyelid coloboma, Abnormal eyelid morphology, Astigmatism	ORPHA:2095
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Epicanthus, Corneal opacity	ORPHA:423461
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity	OMIM:120200
Oculocerebrocutaneous Syndrome	Ptosis, Iris coloboma, Eyelid coloboma, Corneal opacity	ORPHA:1647
Multiple Sulfatase Deficiency	Cataract, Thick eyebrow, Corneal opacity	ORPHA:585
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Pul...	OMIM:619148
Zellweger Syndrome	Cataract, Upslanted palpebral fissure, Epicanthus, Posterior embryotoxon, Corneal opacity, Brushf...	ORPHA:912
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Oculoauricular Syndrome	Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber...	OMIM:612109
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt	OMIM:620510
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity	ORPHA:309288
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Corneal neovascularization, Recurrent corneal erosions, Absent eyelashes, Ptosis, Abse...	OMIM:308205
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure	OMIM:269920
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea...	OMIM:256800
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyopathy, Ventricular tachycard...	OMIM:300952
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch...	ORPHA:365
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Cataract, Microcornea, Nasolacrimal duct obstruction,...	ORPHA:141099
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Downslanted palpebral fissures, Telecanthus, Astigmatism, Corneal opacity, Abnormal left ventricu...	OMIM:301056
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Left ventricular hypertrophy	OMIM:611209
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Axenfeld an...	OMIM:612582
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation	OMIM:617168
Sialidosis Type 1	Cataract, Corneal opacity	ORPHA:812
3Q29 Microduplication Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Sclerocornea, Iris coloboma	ORPHA:251038
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Lowry-Maclean Syndrome	Downslanted palpebral fissures, Corneal opacity, Developmental glaucoma, Megalocornea	ORPHA:2409
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun...	ORPHA:3427
Congenital Sialidosis Type 2	Cataract, Abnormal EKG, Telangiectasia, Developmental cataract, Corneal opacity	ORPHA:93400
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity	OMIM:607015
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,...	OMIM:235200
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Developmental cataract, Corneal opacity	OMIM:616603
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function	ORPHA:229
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal opacity, Tachyc...	ORPHA:1764
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:261740
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Sclerocornea	OMIM:614230
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Ectropion	ORPHA:2719
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:256550
Cystinosis	Portal hypertension, Corneal opacity	ORPHA:213
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Megalocornea, Congestive ...	ORPHA:137675
Walker-Warburg Syndrome	Cataract, Microcornea, Iris coloboma, Corneal opacity	ORPHA:899
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys	ORPHA:364577
Alacrima, Congenital, Autosomal Dominant	Lacrimal punctal atresia, Punctate corneal epithelial erosions, Lacrimal gland hypoplasia	OMIM:103420
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype...	OMIM:242840
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Limbal dermoid, Eyelid coloboma, Hypoplasia of the iris	OMIM:613001
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly	ORPHA:42
Tangier Disease	Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis	ORPHA:31150
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph...	ORPHA:980
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Bilateral ptosis, Mitral regurgitation, Corneal opacity, Op...	OMIM:607014
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Opacification of the corneal stroma, Upslanted palpebral fissure, Epicanthus, Palpebral...	OMIM:214110
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity	OMIM:253010
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar...	ORPHA:1830
Moebius Syndrome	Epicanthus, Ptosis, Blepharitis, Corneal opacity	ORPHA:570
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Fucosidosis	Corneal opacity	ORPHA:349
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Abnormal nasolacrimal system morphology, Pulmonary arterial hypertension, ...	ORPHA:2396
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Downslanted palpebral fissures	OMIM:601853
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Cranioectodermal Dysplasia 2	Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg...	OMIM:613610
Bardet-Biedl Syndrome 1	Left ventricular hypertrophy, Hypertension	OMIM:209900
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Farber Disease	Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity	ORPHA:333
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma	ORPHA:77298
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Upslanted palpebral fissure, Epicanthus, Corneal opacity, Pulmonic stenosis, Synop...	ORPHA:488632
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Mucopolysaccharidosis, Type Vii	Epicanthus, Thick eyebrow, Cardiomyopathy, Corneal opacity	OMIM:253220
Ablepharon Macrostomia Syndrome	Cryptophthalmos, Absent eyelashes, Absent eyebrow, Corneal opacity, Ablepharon, Corneal erosion	ORPHA:920
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Long eyelashes, Broad eyebrow, Keratoconjunctivitis sicca, Corneal opacity, Bupht...	ORPHA:495875
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Gm1 Gangliosidosis	Congestive heart failure, Cardiomyopathy, Corneal opacity	ORPHA:354
De Barsy Syndrome	Cataract, Downslanted palpebral fissures, Epicanthus, Corneal opacity	ORPHA:2962
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy...	OMIM:619127
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma	OMIM:243605
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Hurler Syndrome	Cardiomyopathy, Thick eyebrow, Angina pectoris, Corneal opacity, Hypertension	ORPHA:93473
Oculoectodermal Syndrome	Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, Eyelid coloboma...	OMIM:600268
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Pa...	OMIM:306955
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Lathosterolosis	Cataract, Microcornea, Downslanted palpebral fissures, Epicanthus, Ptosis, Opacification of the c...	ORPHA:46059
Incontinentia Pigmenti	Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension...	ORPHA:464
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L...	ORPHA:284984
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Mucolipidosis Iii Gamma	Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma	OMIM:252605
Phace Syndrome	Cataract, Heterochromia iridis, Ptosis, Sclerocornea, Lens coloboma, Iris coloboma, Abnormality o...	ORPHA:42775
Fontaine Progeroid Syndrome	Abnormal heart morphology, Tricuspid regurgitation, Bicuspid aortic valve, Left ventricular hyper...	OMIM:612289
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Shallow orbits, Corneal opacity	OMIM:601812
Mosaic Trisomy 9	Upslanted palpebral fissure, Corneal opacity	ORPHA:99776
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos	OMIM:236670
Distal Deletion 12Q	Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa...	ORPHA:96149
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp...	OMIM:602782
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect	OMIM:616897
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity	ORPHA:579
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure	OMIM:619259
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Cataract, Downslanted palpebral fissures, Epicanthus, Corneal opacity	ORPHA:1052
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Pterygium, Lower eyelid coloboma, Upsla...	OMIM:263650
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Xeroderma Pigmentosum	Cataract, Ankyloblepharon, Keratitis, Pterygium, Telangiectasia, Conjunctival telangiectasia, Tel...	ORPHA:910
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae	OMIM:608940
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Cardiomyopathy, Severely reduced left ventricular ejection fraction, Opacif...	OMIM:252600
Mucopolysaccharidosis, Type Vi	Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis...	OMIM:253200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Opacification ...	ORPHA:79280
Focal Dermal Hypoplasia	Ectopia lentis, Hypoplasia of the iris, Telangiectasia of the skin, Corneal opacity, Iris coloboma	ORPHA:2092
Chime Syndrome	Epicanthus, Ptosis, Upslanted palpebral fissure, Corneal opacity	ORPHA:3474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys	OMIM:608670
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Highly arched eyebrow, Mitral regurgitation, Astigmatism, Corneal...	ORPHA:309282
Carpenter Syndrome 1	Microcornea, Telecanthus, Epicanthus, Opacification of the corneal stroma, Pulmonic stenosis	OMIM:201000
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,...	OMIM:268800
Neurocardiofaciodigital Syndrome	Sclerocornea, Cataract, Sparse eyebrow, Narrow palpebral fissure	OMIM:619869
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Posterior subcapsular cataract, Megalocornea, Downslanted palpebral fissur...	ORPHA:536471
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid aortic valve, Left ve...	OMIM:220111
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Mucopolysaccharidosis Type 3	Cataract, Atrioventricular block, Reduced left ventricular ejection fraction, Corneal opacity, Op...	ORPHA:581
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Arrhythmia...	OMIM:309801
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Bicus...	OMIM:613795
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Thin eyebrow, Astigmatism, Abnormal nasolacrimal system morphology, Absent eyebrow, Ab...	ORPHA:2273
Fryns Syndrome	Corneal opacity	ORPHA:2059
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Cerebral ischemia, Astigmatism, Pulmonary arterial hypertension, Opaci...	OMIM:242900
Congenital Disorder Of Deglycosylation 1	Ptosis, Corneal ulceration, Corneal opacity	OMIM:615273
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Nocturnal lagophthalmos, Left ventricular systolic d...	ORPHA:740
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity	ORPHA:464311
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy	OMIM:105210
Kindler Epidermolysis Bullosa	Ectropion, Conjunctivitis, Corneal opacity	ORPHA:2908
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c...	OMIM:608836
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity	ORPHA:464306
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Larsen Syndrome	Shallow orbits, Corneal opacity	OMIM:150250
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation, Limb hypertonia	OMIM:620306
Fraser Syndrome 1	Lacrimal duct aplasia, Cryptophthalmos, Absent eyelashes, Upper eyelid coloboma, Absent eyebrow, ...	OMIM:219000
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Epicanthus, Ptosis, Opacification of the corneal stroma	OMIM:251300
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Opacification of the corneal stroma, Upslanted palpebral fissure, Epicanthus, Brushfiel...	OMIM:214100
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ptosis, Developmental catar...	ORPHA:90348
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Cataract, Tricuspid regurgitation, Palpebral edema, Opacification of the co...	OMIM:614866
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Megalocornea, Epicanthus, Ptosis, Scleroco...	ORPHA:280
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Mosaic Trisomy 1	Congenital bilateral ptosis, Opacification of the corneal stroma, Downslanted palpebral fissures	ORPHA:1692
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Sparse eyebrow, Congestive heart failure, Hypertrophic cardiomyopathy, Mega...	OMIM:252500
Thrombocytopenia-Absent Radius Syndrome	Cataract, Ptosis, Corneal opacity	OMIM:274000
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Upslanted palpebral fissure, Corneal opacity, B...	ORPHA:534
Peters Plus Syndrome	Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Upslanted palpebral fissure, Corn...	ORPHA:709
Van Den Ende-Gupta Syndrome	Sclerocornea, Abnormal eyebrow morphology, Blepharophimosis	OMIM:600920
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o...	ORPHA:649
Neurofibromatosis Type 1	Cataract, Heterochromia iridis, Lisch nodules, Abnormal eyelid morphology, Corneal opacity, Hyper...	ORPHA:636
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Smith-Lemli-Opitz Syndrome	Cataract, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Ptosis, Sclero...	ORPHA:818
Hereditary Acrokeratotic Poikiloderma	Ectropion, Keratoconjunctivitis, Telangiectasia of the skin, Opacification of the corneal stroma	ORPHA:2907
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ptosis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Corneal opacity	ORPHA:2072
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension	ORPHA:217085
Williams Syndrome	Cataract, Megalocornea, Hypertrophic cardiomyopathy, Congestive heart failure, Cerebral ischemia,...	ORPHA:904
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension	ORPHA:217093
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Mucopolysaccharidosis Type 2	Arrhythmia, Hypertension, Cardiomyopathy, Corneal opacity	ORPHA:580
Microphthalmia, Syndromic 3	Sclerocornea, Cataract	OMIM:206900
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia, Patent ductus arteriosus	ORPHA:96191
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
Meckel Syndrome	Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris	ORPHA:564
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy	OMIM:230000
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Opacification of the corneal stroma, Short palpebral fissure	OMIM:601559
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula...	OMIM:300855
Yunis-Varon Syndrome	Cataract, Sparse eyebrow, Cardiomyopathy, Upslanted palpebral fissure, Sparse eyelashes, Pulmonar...	ORPHA:3472
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Wiedemann-Rautenstrauch Syndrome	Cataract, Upslanted palpebral fissure, Pulmonic stenosis, Entropion, Corneal opacity, Lagophthalm...	ORPHA:3455
Bohring-Opitz Syndrome	Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp...	ORPHA:97297
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Corneal opacity	ORPHA:666
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia...	OMIM:620371
Cockayne Syndrome B	Microcornea, Hypoplasia of the iris, Arrhythmia, Developmental cataract, Opacification of the cor...	OMIM:133540
Gaucher Disease	Pulmonary arterial hypertension, Corneal opacity	ORPHA:355
Abetalipoproteinemia	Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle weakness, Hepatomegaly	ORPHA:14
Roberts-Sc Phocomelia Syndrome	Cataract, Downslanted palpebral fissures, Eyelid coloboma, Shallow orbits, Corneal opacity, Opaci...	OMIM:268300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring	OMIM:277900
Fryns Syndrome	Opacification of the corneal stroma, Blepharophimosis, Narrow palpebral fissure	OMIM:229850
Cockayne Syndrome A	Cataract, Arrhythmia, Opacification of the corneal stroma, Hypertension	OMIM:216400
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac...	OMIM:256040
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi...	ORPHA:51
Digeorge Syndrome	Sclerocornea, Posterior embryotoxon, Short palpebral fissure, Blepharophimosis	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea	OMIM:253280
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis	OMIM:620376
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe...	OMIM:619991
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat...	ORPHA:116
Microphthalmia, Syndromic 6	Sclerocornea, Microcornea, Orbital cyst	OMIM:607932
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Yunis-Varon Syndrome	Cataract, Sparse eyebrow, Cardiomyopathy, Upslanted palpebral fissure, Sparse eyelashes, Epicanth...	OMIM:216340
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina...	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dsc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dsc2.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dsc2^{tm1e(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dsc2^{tm1e(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dsc2^{tm1e(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dsc2^{tm1e(KOMP)Wtsi}	PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dsc2^{tm44818(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dsc2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Dsc2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dsc2 MGI:103221

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Dsc2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data