Genes Phenotypes Help, News, Blog

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

Gene: Foxe3 MGI:1353569

Gene Summary

Name:

forkhead box E3

Synonyms:

FREAC8, rct

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
anophthalmia	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased exploration in new environment	Foxe3^em1(IMPC)Mbp	HOM	Early adult	8.16×10^-05
abnormal testis morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Foxe3^em1(IMPC)Mbp	HOM	Early adult	4.14×10^-06
abnormal eye morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Foxe3^em1(IMPC)Mbp	HOM	Early adult	1.24×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

View images

Human diseases caused by Foxe3 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 Foxe3 (5 diseases)
Human diseases predicted to be associated with Foxe3 (1697 diseases)

The table below shows human diseases associated to Foxe3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349

The table below shows human diseases predicted to be associated to Foxe3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 44	Developmental cataract	OMIM:616509
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Cataract 24	Anterior polar cataract	OMIM:601202
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Galactosialidosis	Corneal opacity	ORPHA:351
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Cataract 7	Developmental cataract	OMIM:115660
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Nathalie Syndrome	Arrhythmia, Cataract	ORPHA:2663
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
X-Linked Retinoschisis	Cataract	ORPHA:792
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Trichomegaly	Cataract	OMIM:190330
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Juvenile cataract, Arrhythmia	OMIM:212500
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Galactosemia Iv	Cataract	OMIM:618881
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia, Cataract	OMIM:278780
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Morquio Syndrome C	Corneal opacity	OMIM:252300
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 3, Autosomal Dominant	Tremor, Cataract	OMIM:165300
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Aniridia 3	Aniridia, Cataract	OMIM:617142
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst	OMIM:620086
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy	Developmental cataract	OMIM:619354
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Winchester Syndrome	Corneal opacity	OMIM:277950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Galactosemia Ii	Cataract	OMIM:230200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Cataract 49	Posterior cortical cataract	OMIM:619593
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Nathalie Syndrome	Abnormal EKG, Cataract	OMIM:255990
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Gms Syndrome	Rieger anomaly, Tricuspid regurgitation	ORPHA:2090
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Nasolacrimal duct obstruction, Dev...	OMIM:612109
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Weill-Marchesani Syndrome 3	Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten...	OMIM:614819
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis,...	OMIM:278730
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Developmental cataract	ORPHA:1375
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Developmental cataract	ORPHA:2572
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Dystonia, Developmental cataract	OMIM:618284
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma, Cataract, Abnormality iris morphology	ORPHA:1617
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Glaucoma 1, Open Angle, A	Abnormal iris vasculature	OMIM:137750
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Developmental cataract	OMIM:618808
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Waardenburg Syndrome, Type 2A	Hypoplastic iris stroma, Heterochromia iridis	OMIM:193510
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Cataract 47	Microcornea, Cataract	OMIM:612018
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract	ORPHA:324416
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Cataract, Limb tremor	OMIM:616647
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,...	OMIM:221900
Spastic Paraplegia 64, Autosomal Recessive	Developmental cataract	OMIM:615683
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen...	ORPHA:54
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Hec Syndrome	Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Developmental cataract	ORPHA:2119
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel...	ORPHA:39044
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
N Syndrome	Megalocornea	ORPHA:2608
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Hyperlysinemia, Type I	Ectopia lentis	OMIM:238700
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Blue Cone Monochromatism	Corneal dystrophy	ORPHA:16
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe	OMIM:109120
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Chorioretinal dysplasia	OMIM:251270
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology	ORPHA:782
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Pellagra-Like Syndrome	Cataract	OMIM:260650
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Wagner Vitreoretinopathy	Cataract, Chorioretinal atrophy	OMIM:143200
Cataract 48	Cataract	OMIM:618415
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c...	ORPHA:139471
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity	OMIM:607016
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis	OMIM:617388
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Intention tremor	ORPHA:48431
Alexander Disease	Microcoria	OMIM:203450
Retinitis Pigmentosa 9	Cataract	OMIM:180104
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari...	OMIM:158310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia	OMIM:615877
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Morm Syndrome	Cataract	ORPHA:75858
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Sutural cataract	OMIM:201470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract	OMIM:615352
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Coloboma, Cataract, Corneal opacity	OMIM:613153
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Intermediate Uveitis	Anterior uveitis, Cataract, Band keratopathy, Vasculitis, Posterior synechiae of the anterior cha...	ORPHA:279914
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ...	OMIM:615145
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Developmental cataract	OMIM:607674
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system...	OMIM:609049
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea	OMIM:249310
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Hurler-Scheie Syndrome	Cardiomyopathy, Corneal opacity	ORPHA:93476
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Cataract, Iris hypopigmentation	ORPHA:67048
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Dystonia, Corneal opacity, Developmental cataract	OMIM:617183
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Sveinsson Chorioretinal Atrophy	Peripapillary chorioretinal atrophy, Astigmatism	OMIM:108985
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract	ORPHA:329314
Chondrodysplasia-Difference Of Sex Development Syndrome	Hypoplasia of the iris, Chorioretinal coloboma	ORPHA:1422
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
1Q21.1 Microduplication Syndrome	Cataract	ORPHA:250994
Nephroblastoma	Aniridia, Hypertension	ORPHA:654
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:613835
Dilution, Pigmentary	Iris hypopigmentation	OMIM:126070
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Cataract, Dystonia	OMIM:614932
Cataract-Ataxia-Deafness Syndrome	Tremor, Developmental cataract	ORPHA:1368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy, Developmental cataract	OMIM:613155
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Retinitis Pigmentosa 84	Cataract, Macular coloboma	OMIM:618220
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Sialidosis Type 2	Tremor, Corneal opacity	ORPHA:87876
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea	OMIM:613001
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract, Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia	OMIM:617306
Nivelon-Nivelon-Mabille Syndrome	Hypoplasia of the iris, Optic disc coloboma	OMIM:600092
Achromatopsia 3	Cataract	OMIM:262300
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Stickler Syndrome, Type V	Cataract	OMIM:614284
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Developmental And Epileptic Encephalopathy 73	Cataract	OMIM:618379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cataract	OMIM:617393
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula	ORPHA:370097
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Blue irides	OMIM:606574
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract	OMIM:617404
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia	OMIM:610125
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cardiomyopathy, Cataract	OMIM:301075
Waardenburg Syndrome, Type 2B	Heterochromia iridis	OMIM:600193
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Dystonia	ORPHA:101006
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Waardenburg Syndrome, Type 2E	Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Iris hypopigmentation	OMIM:611584
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ...	ORPHA:225
Tietz Albinism-Deafness Syndrome	Blue irides, Heterochromia iridis	OMIM:103500
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma	OMIM:615147
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Juvenile cataract	ORPHA:500545
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Autosomal Recessive Spastic Paraplegia Type 25	Developmental glaucoma, Developmental cataract	ORPHA:101005
Donnai-Barrow Syndrome	Hypoplasia of the iris, Cataract, Iris coloboma	OMIM:222448
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cataract, Intention tremor	OMIM:224050
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Cataract, Intention tremor	OMIM:614307
Mevalonic Aciduria	Cataract	ORPHA:29
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Dystonia	OMIM:230650
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Optic nerve hypoplasia	ORPHA:496790
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Developmental cataract	ORPHA:330054
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Temtamy Syndrome	Aortic regurgitation, Highly arched eyebrow, Lens luxation, Ectopia lentis, Chorioretinal colobom...	OMIM:218340
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Concentric hypertrophic cardiomyopathy	OMIM:204200
Senior-Loken Syndrome	Hypertension, Cataract	ORPHA:3156
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Iris transillumination defect, Chorioretinal hypopigmentation	OMIM:619165
Kleeblattschaedel	Recurrent corneal erosions	OMIM:148800
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Optic disc coloboma, Increased axial length of the globe, Microcornea, Shallow anter...	OMIM:602499
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Weill-Marchesani Syndrome	Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis	ORPHA:3449
X-Linked Intellectual Disability, Miles-Carpenter Type	Microcornea	ORPHA:85283
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Cataract	ORPHA:3173
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Alport Syndrome 3A, Autosomal Dominant	Anterior polar cataract, Lenticonus	OMIM:104200
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
Flynn-Aird Syndrome	Cataract	OMIM:136300
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Trisomy 12P	Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye	ORPHA:1699
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Microcornea	ORPHA:2536
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Stiff Skin Syndrome	Cataract	OMIM:184900
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Fatty Acyl-Coa Reductase 1 Deficiency	Juvenile cataract	ORPHA:438178
Baralle-Macken Syndrome	Cataract, Dystonia	OMIM:619255
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Coats Disease	Leukocoria, Retinal telangiectasia	OMIM:300216
Cutis Marmorata Telangiectatica Congenita	Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Short Syndrome	Megalocornea, Astigmatism, Rieger anomaly, Cataract	OMIM:269880
Neovascular Glaucoma	Corneal stromal edema, Abnormal anterior chamber morphology, Abnormal uvea morphology, Iris neova...	ORPHA:94058
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract	OMIM:615350
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Aortic root aneurysm, Lens subluxation, Pulmonic stenosis, Persistent left ...	OMIM:609008
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Morning Glory Disc Anomaly	Optic disc coloboma, Cataract	ORPHA:35737
Lissencephaly 5	Cataract	OMIM:615191
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity	ORPHA:309288
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Cataract, Choroidal neovascularization, Abnormal choroid morph...	ORPHA:179
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Trisomy 13	Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Phenylketonuria	Cataract, Blue irides	OMIM:261600
Retinitis Pigmentosa 2	Cataract, Chorioretinal degeneration	OMIM:312600
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Wagro Syndrome	Aniridia, Hypertension, Cataract, Corneal opacity	OMIM:612469
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Cerebral arteriovenous malformation, Lens colobom...	ORPHA:42775
Sialidosis Type 1	Tremor, Cataract, Corneal opacity	ORPHA:812
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Facial Spasm	Anisocoria	OMIM:134300
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation	ORPHA:2513
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor	OMIM:270800
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Monilethrix	Cataract	ORPHA:573
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Lcat Deficiency	Corneal opacity	ORPHA:650
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Cataract	OMIM:617228
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
Amyloidosis, Finnish Type	Cardiomyopathy, Lattice corneal dystrophy	OMIM:105120
Rothmund-Thomson Syndrome, Type 1	Juvenile cataract	OMIM:618625
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Wilson-Turner Syndrome	Cataract	ORPHA:3459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao...	ORPHA:229
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract	OMIM:615704
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Frontonasal Dysplasia 1	Microphthalmia, Coloboma, Cataract	OMIM:136760
Palmoplantar Keratoderma And Congenital Alopecia 2	Developmental cataract	OMIM:212360
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Intention tremor, Subcapsular cataract, Cataract	OMIM:612674
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Cataract, Abnormally large globe	OMIM:615249
Kid Syndrome	Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio...	ORPHA:477
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Hand tremor	OMIM:162400
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Cerebral hemorrhage, Dilated cardiomyopathy, Premature coronary artery atherosclerosis,...	OMIM:300845
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Cataract	OMIM:612379
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Encephalopathy Due To Sulfite Oxidase Deficiency	Ectopia lentis	ORPHA:833
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Phosphoglycerate Dehydrogenase Deficiency	Developmental cataract	OMIM:601815
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Phace Association	Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ...	OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic...	ORPHA:233
Dystonia-Deafness Syndrome 1	Leg dystonia, Cataract, Oculogyric crisis, Generalized dystonia	OMIM:607371
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract, Postural tremor	OMIM:300619
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Athetosis, Choroideremia, Aplasia/Hypoplasia affectin...	ORPHA:2719
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Cardiomyopathy, Micropht...	ORPHA:370959
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Cataract	OMIM:606069
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Walker-Warburg Syndrome	Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Microphthalmia, Ir...	ORPHA:899
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
Intestinal Botulism	Mydriasis	ORPHA:178481
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape	ORPHA:45358
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis	ORPHA:66633
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Hand tremor, Head tremor	OMIM:614409
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Anterior polar cataract	OMIM:250420
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertension	ORPHA:52
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Ectopia lentis	ORPHA:2325
Myopathy, Myofibrillar, 2	Hypertrophic cardiomyopathy, Cataract	OMIM:608810
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Developmental cataract, Telangi...	ORPHA:93400
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Primary Non-Essential Cutis Verticis Gyrata	Developmental cataract	ORPHA:357225
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Cataract	OMIM:615351
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Congenital Fibrinogen Deficiency	Tachycardia, Opisthotonus, Developmental cataract, Microphthalmia, Internal hemorrhage	ORPHA:335
Noonan Syndrome 9	Prominent corneal nerve fibers, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslan...	OMIM:616559
Aorto-Ventricular Tunnel	Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu...	ORPHA:3400
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract, Dystonia	OMIM:614105
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Stickler Syndrome, Type Ii	Cataract	OMIM:604841
Sympathetic Ophthalmia	Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber...	ORPHA:79098
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Chorioretina...	ORPHA:2092
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Crome Syndrome	Developmental cataract	OMIM:218900
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Patent ductus arteriosus, Coloboma, Peters anomaly, Micropht...	OMIM:618652
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract	OMIM:614879
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly	OMIM:270450
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Intention tremor	ORPHA:284289
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus	OMIM:245900
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract	ORPHA:1264
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants...	ORPHA:649
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Familial Isolated Hypoparathyroidism	Arrhythmia, Cataract	ORPHA:2238
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Sengers Syndrome	Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary arterial hypert...	OMIM:212350
Waardenburg Syndrome, Type 1	Hypoplastic iris stroma, Heterochromia iridis, Blue irides	OMIM:193500
Pontocerebellar Hypoplasia, Type 16	Cataract	OMIM:619527
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Wound Botulism	Cardiac arrest, Mydriasis	ORPHA:178475
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract	OMIM:617481
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Mitral regurgitation, Pulm...	OMIM:277600
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Alport Syndrome 2, Autosomal Recessive	Hypertension, Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma	ORPHA:2185
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Cataract	OMIM:616586
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia...	ORPHA:860
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract	ORPHA:2772
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Classic Phenylketonuria	Tremor, Cataract	ORPHA:79254
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Bietti Crystalline Dystrophy	Choriocapillaris atrophy, Crystalline corneal dystrophy, Chorioretinal degeneration	ORPHA:41751
Rhizomelic Chondrodysplasia Punctata	Cataract	ORPHA:177
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Severe Early-Childhood-Onset Retinal Dystrophy	Macular coloboma, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chorio...	ORPHA:364055
Peroxisome Biogenesis Disorder 7A (Zellweger)	Cataract	OMIM:614872
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Peroxisome Biogenesis Disorder 14B	Developmental cataract	OMIM:614920
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Arterial Tortuosity Syndrome	Aortic regurgitation, Keratoconus, Carotid artery dissection, Pulmonary artery stenosis, Aortic t...	OMIM:208050
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity	OMIM:607015
Autosomal Recessive Cutis Laxa Type 2A	Athetosis, Abnormal cornea morphology, Corneal opacity, Dystonia	ORPHA:357058
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Maternal Uniparental Disomy Of Chromosome 1	Cataract	ORPHA:251009
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Achondrogenesis Type 2	Cataract, Lens subluxation	ORPHA:93296
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Combined Oxidative Phosphorylation Deficiency 47	Cataract	OMIM:618958
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Alg3-Cdg	Cardiomyopathy, Cataract, Coarctation of the descending aortic arch	ORPHA:79321
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
4H Leukodystrophy	Tremor, Cataract, Dystonia	ORPHA:289494
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Dentici-Novelli Neurodevelopmental Syndrome	Cataract	OMIM:619877
Nephronophthisis 11	Anisocoria	OMIM:613550
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Cataract	ORPHA:544469
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid regurgitation, Anophthalmia, Corneal dystrophy, Mitral regurgitation, Aniridia, Megaloc...	ORPHA:1101
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract	ORPHA:3137
Refsum Disease	Heart block, Microphthalmia, Cataract, Cardiomyopathy	ORPHA:773
Vitamin K Antagonist Embryofetopathy	Cataract, Aplasia/Hypoplasia affecting the eye	ORPHA:1914
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot...	ORPHA:912
Mass Syndrome	Ectopia lentis	OMIM:604308
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Head tremor	ORPHA:320391
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia	ORPHA:79107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal scarring, Athetosis, Dystonia, Lingual dystonia, Corneal neovascularization, Action tremor	ORPHA:404454
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Dystonia	OMIM:619286
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Developmental cataract	OMIM:259410
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Neonatal Adrenoleukodystrophy	Cataract	ORPHA:44
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke	ORPHA:280679
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Cataract	ORPHA:272
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:258870
Rere-Related Neurodevelopmental Syndrome	Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma	ORPHA:494344
Retinitis Pigmentosa 13	Subcapsular cataract	OMIM:600059
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Ocular anterior segment dysgenesis, Iris coloboma	OMIM:601427
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Huppke-Brendel Syndrome	Developmental cataract	OMIM:614482
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Cadds	Cataract, Dystonia	ORPHA:369942
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Full Schwannomatosis	Cataract	ORPHA:93921
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Subcapsular cataract	OMIM:601813
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Bare Lymphocyte Syndrome, Type I	Ectopia lentis	OMIM:604571
Knobloch Syndrome 1	Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis...	OMIM:267750
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Cataract	ORPHA:772
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract	ORPHA:1387
Mend Syndrome	Anterior polar cataract, Cataract	OMIM:300960
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Fucosidosis	Corneal opacity	ORPHA:349
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Botulism	Arrhythmia, Mydriasis	ORPHA:1267
Muscle-Eye-Brain Disease	Cataract	ORPHA:588
Srd5A3-Cdg	Coloboma, Cataract, Optic disc hypoplasia	ORPHA:324737
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment	ORPHA:276183
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract	ORPHA:3085
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension	OMIM:231550
Cystinosis	Corneal opacity, Portal hypertension	ORPHA:213
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract	ORPHA:370997
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Developmental cataract	OMIM:616834
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye	ORPHA:2323
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon	OMIM:619194
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Corneal opacity	OMIM:163200
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Cognitive impairment	OMIM:613909
Loeys-Dietz Syndrome 4	Flat cornea, Arterial tortuosity, Aortic tortuosity, Ascending tubular aorta aneurysm, Aortic roo...	OMIM:614816
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Iris coloboma, Dystonia	OMIM:607906
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Myotonic Dystrophy 1	Atrial flutter, Cataract, First degree atrioventricular block, Atrial fibrillation	OMIM:160900
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Waardenburg Syndrome, Type 4B	Blue irides, Heterochromia iridis	OMIM:613265
Inhalational Botulism	Mydriasis	ORPHA:254504
Metatropic Dysplasia	Cataract	ORPHA:2635
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hypertrophic cardiomyopathy, Cataract, Heart murmur	OMIM:615418
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Synophrys, Patent ductus arteriosus, Coarctation of aorta, Astigmatism, Pulmonic stenosis, Chorio...	ORPHA:284169
Ehlers-Danlos Syndrome, Classic Type, 1	Epicanthus, Aortic root aneurysm, Ectopia lentis	OMIM:130000
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Harlequin Ichthyosis	Cataract, Sudden cardiac death	ORPHA:457
Methionine Malabsorption Syndrome	Blue irides	OMIM:250900
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Cataract, Congestive heart failure	OMIM:266500
Arterial Tortuosity Syndrome	Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Vascular dilatati...	ORPHA:3342
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Foodborne Botulism	Arrhythmia, Mydriasis	ORPHA:228371
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia, Congestive heart failure	ORPHA:2505
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Bardet-Biedl Syndrome 9	Astigmatism, Cataract	OMIM:615986
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Cataract	ORPHA:1856
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Focal dystonia, Developmental cataract	ORPHA:447757
Leukodystrophy, Hypomyelinating, 5	Intention tremor, Truncal titubation, Developmental cataract	OMIM:610532
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Iris coloboma	OMIM:155145
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis	ORPHA:178478
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea...	OMIM:256800
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Atelis Syndrome 1	Cataract	OMIM:620184
Retinitis Pigmentosa 46	Posterior subcapsular cataract	OMIM:612572
Distal Duplication 6P	Cataract, Aplasia/Hypoplasia affecting the eye	ORPHA:1745
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Chorioretinal coloboma, Long palpebr...	OMIM:243310
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Micro Syndrome	Microcornea, Microphthalmia, Cataract, Retinal coloboma	ORPHA:2510
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Flynn-Aird Syndrome	Cataract	ORPHA:2047
Encephalocraniocutaneous Lipomatosis	Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypot...	OMIM:619927
Phaver Syndrome	Epicanthus, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia, Pterygium, D...	ORPHA:2876
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Velocardiofacial Syndrome	Retinal vascular tortuosity, Tetralogy of Fallot, Narrow palpebral fissure, Interrupted aortic ar...	OMIM:192430
Lymphedema-Distichiasis Syndrome	Ptosis, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Corneal ulceration, Conjun...	OMIM:153400
Gorlin Syndrome	Cataract, Iris coloboma	ORPHA:377
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Flat cornea	OMIM:618283
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cataract	OMIM:608093
Nanophthalmos	Microphthalmia	ORPHA:35612
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Cataract, Iris coloboma	ORPHA:2250
Joint Laxity, Short Stature, And Myopia	Iris coloboma, Chorioretinal coloboma	OMIM:617662
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Autosomal Recessive Spastic Paraplegia Type 5A	Cataract	ORPHA:100986
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Cockayne Syndrome B	Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacification of the c...	OMIM:133540
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Marfan Syndrome	Flat cornea, Ectopia lentis, Lens luxation, Congestive heart failure, Hypoplasia of the iris, Len...	ORPHA:558
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Abnormal left ventricular function, Conjunctivitis, Laryngeal dy...	ORPHA:36913
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect	OMIM:615179
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat...	OMIM:309801
Tangier Disease	Myocardial infarction, Opacification of the corneal stroma	OMIM:205400
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Cataract, Hematochezia	ORPHA:79095
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma, Dystonia	OMIM:251290
Marfan Syndrome	Aortic regurgitation, Cataract, Tricuspid regurgitation, Ectopia lentis, Congestive heart failure...	OMIM:154700
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:602772
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Ascending tubular aorta aneu...	ORPHA:284979
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Cataract, Bradycardia	OMIM:609286
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Congenital Ichthyosiform Erythroderma	Keratitis, Corneal erosion	ORPHA:79394
Carpenter Syndrome	Abnormal cornea morphology	ORPHA:65759
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal repetitive mannerisms	ORPHA:411986
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Myopic astigmatism, Mitral regurgitation, Aortic r...	ORPHA:230851
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Hyperactivity	OMIM:274270
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Galactosemia I	Cataract	OMIM:230400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph...	OMIM:236670
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Cataract, Microphthalmia, Posterior embryotoxon, Corneal neovascular...	ORPHA:567
Ruijs-Aalfs Syndrome	Posterior subcapsular cataract, Cataract	OMIM:616200
Peroxisome Biogenesis Disorder 8B	Cataract, Limb tremor	OMIM:614877
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Chromosome Xp11.3 Deletion Syndrome	Posterior subcapsular cataract, Cataract	OMIM:300578
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract	OMIM:620327
Renpenning Syndrome	Cataract, Iris coloboma	ORPHA:3242
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ermine Phenotype	Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:999
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr...	ORPHA:2470
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hyp...	ORPHA:564
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow...	ORPHA:99050
Anencephaly 2	Anophthalmia	OMIM:619452
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal degeneration, Subdural h...	ORPHA:90324
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract	OMIM:268020
Retinitis Pigmentosa 77	Posterior subcapsular cataract	OMIM:617304
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Conjunctivitis, Corneal dystrophy	OMIM:308800
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ocular albinism, Iris hypopigmentation	ORPHA:2720
Chanarin-Dorfman Syndrome	Subcapsular cataract	OMIM:275630
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal ulceration, Corneal scarring	OMIM:616488
Serotonin Syndrome	Tachycardia, Tremor, Hypertension, Hypotension, Mydriasis	ORPHA:43116
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Presenile cataracts, Myocardial infarction	ORPHA:182050
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Retinitis Pigmentosa 83	Posterior subcapsular cataract	OMIM:618173
Retinitis Pigmentosa 14	Posterior subcapsular cataract	OMIM:600132
Cln3 Disease	T-wave inversion, Cataract, Bradycardia	ORPHA:228346
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract, Pulmonary arterial hypertension	OMIM:616449
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Leuk...	ORPHA:1556
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Hypertension, Keratoconjunctivitis sicca, Aortic root aneurysm, Downslanted palpe...	OMIM:616914
Retinitis Pigmentosa 23	Posterior subcapsular cataract	OMIM:300424
Wolfram Syndrome 1	Tremor, Cardiomyopathy, Cataract	OMIM:222300
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Microcornea, Coloboma, Iris coloboma	ORPHA:1297
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Clouston Syndrome	Cataract, Conjunctivitis	OMIM:129500
Neuraminidase Deficiency	Cardiomyopathy, Cataract	OMIM:256550
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Arrhythmia, Dystonia, Hypertrophic cardiomyopathy	ORPHA:254913
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract	ORPHA:369840
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cardiomyopathy, Cataract	ORPHA:363623
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Contractural Arachnodactyly, Congenital	Patent ductus arteriosus, Mitral regurgitation, Aortic root aneurysm, Ectopia lentis	OMIM:121050
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Fryns Syndrome	Corneal opacity, Abnormal aortic arch morphology, Abnormal aortic morphology, Microphthalmia, Tet...	ORPHA:2059
Trichinellosis	Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival hyperemia	ORPHA:863
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Spastic Paraplegia 9A, Autosomal Dominant	Resting tremor, Cataract	OMIM:601162
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization	OMIM:133780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Optic nerve hypoplasia, Abnormal left ventricular function, Astigmatism, Pulmoni...	OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp...	OMIM:614643
Retinitis Pigmentosa 66	Posterior subcapsular cataract	OMIM:615233
Cockayne Syndrome Type 2	Anophthalmia, Cryptorchidism, Developmental cataract, Conjunctivitis, Male hypogonadism	ORPHA:90322
Alport Syndrome	Posterior subcapsular cataract, Renal glomerular foam cells, Abnormal corneal endothelium morphol...	ORPHA:63
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Cataract, Sutural cataract, Tremor, Nuclear pulverulent cataract, Microphth...	OMIM:612474
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Ani...	ORPHA:29072
Proboscis Lateralis	Cataract, Corneal opacity, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Nasolacrima...	ORPHA:141099
Triploidy	Cataract, Iris coloboma, Aplasia/Hypoplasia affecting the eye	ORPHA:3376
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma	OMIM:253010
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214110
Distal Triplication 15Q	Patent ductus arteriosus, Telecanthus, Hypoplastic aortic arch, Corneal dystrophy	ORPHA:314588
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Patent ductus arteriosus, Interrupted aortic arch, Microphthalmia, Iris col...	ORPHA:250989
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract	OMIM:615434
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Incontinentia Pigmenti	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Telangiectasia of the skin, Keratit...	ORPHA:464
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr...	OMIM:206900
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Trichothiodystrophy 1, Photosensitive	Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Conjunctivitis, Corneal scarring	OMIM:226600
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract	OMIM:609033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract, Dilated cardiomyopathy, Pulmonic stenosis, Microphthalmia	OMIM:253800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cardiomyopathy, Cataract	OMIM:620089
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Pulmonary arterial hypertension	ORPHA:65286
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Congenital Tufting Enteropathy	Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Multiple Epiphyseal Dysplasia, Beighton Type	Cataract	ORPHA:166011
Classic Galactosemia	Dystonia, Cataract, Postural tremor, Action tremor	ORPHA:79239
Cardiofaciocutaneous Syndrome 4	Cataract, Optic nerve hypoplasia, Pulmonic stenosis	OMIM:615280
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Patent ductus arteriosus, Hypoplastic aortic arch, Promine...	ORPHA:2962
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Severe Oculo-Renal-Cerebellar Syndrome	Choreoathetosis, Cataract	ORPHA:2715
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Charcot-Marie-Tooth Disease Type 4B2	Buphthalmos, Developmental glaucoma, Cataract, Tremor	ORPHA:99956
Papillorenal Syndrome	Cataract, Lens luxation, Optic disc coloboma, Chorioretinal atrophy, Hypertension, Retinal colobo...	OMIM:120330
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis	OMIM:186580
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Nuclear cataract, Cataract	OMIM:608885
Retinitis Pigmentosa 10	Posterior subcapsular cataract	OMIM:180105
Charcot-Marie-Tooth Disease Type 4C	Anisocoria, Head tremor	ORPHA:99949
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Koolen-De Vries Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Patent ductus arteriosus, Upslanted palpebral fissur...	OMIM:610443
Alport Syndrome 1, X-Linked	Corneal erosion, Developmental cataract, Hypertension, Anterior lenticonus, Lenticonus	OMIM:301050
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract	OMIM:618195
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Cataract, Congestive heart failure	ORPHA:52430
Borjeson-Forssman-Lehmann Syndrome	Cataract	ORPHA:127
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Aorta Coarctation	Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a...	ORPHA:1457
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract	OMIM:614376
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Portal hypertension, Pulmonary arterial hypertension, Micr...	ORPHA:974
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Epicanthus, Atrial flutter, Overriding aorta, Telecanthus, Patent ductus arteriosus, Vascular rin...	OMIM:601927
Cronkhite-Canada Syndrome	Cataract	ORPHA:2930
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Cataract	ORPHA:88628
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal...	OMIM:308205
Harrod Syndrome	Cataract	ORPHA:2115
Usher Syndrome	Cataract, Vestibular areflexia, Abnormal cardiovascular system physiology, Astigmatism, Hypertrop...	ORPHA:886
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Cataract, First degree atrioventricular block	ORPHA:589821
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Tangier Disease	Corneal opacity	ORPHA:31150
Marinesco-Sjögren Syndrome	Cataract	ORPHA:559
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmon...	OMIM:620185
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal cerebral vascular mo...	ORPHA:3205
Pai Syndrome	Iris coloboma	ORPHA:1993
Codas Syndrome	Cataract	ORPHA:1458
Retinoblastoma	Vitreous hemorrhage, Leukocoria	OMIM:180200
Acute Radiation Syndrome	Cataract, Hypotension, Telangiectasia	ORPHA:454831
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati...	OMIM:615779
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Cataract	OMIM:224410
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Patent ductus arteriosus, Chorioretinal atrophy, Coarctati...	OMIM:600268
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Hypo...	ORPHA:790
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Highly arched eyebrow, Pulmonary arterial hypertension, Microphthalmia, Tetral...	OMIM:300887
Martsolf Syndrome 1	Cataract, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardiomyopathy, Micro...	OMIM:212720
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Tremor, Congestive heart failure, Cardiomyopathy, Dystonia	ORPHA:354
Lymphedema-Distichiasis Syndrome	Corneal erosion, Cataract, Conjunctivitis, Arrhythmia	ORPHA:33001
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract	OMIM:618797
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Vici Syndrome	Cardiomyopathy, Cataract	ORPHA:1493
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro...	ORPHA:1830
Aortic Valve Disease 3	Aortic valve stenosis, Ascending aortic dissection, Aortic root aneurysm	OMIM:618496
Retinitis Pigmentosa 43	Posterior subcapsular cataract	OMIM:613810
Tyrosinemia, Type Ii	Herpetiform corneal ulceration	OMIM:276600
Cutis Laxa, Autosomal Recessive, Type Iiia	Athetosis, Corneal arcus, Cataract	OMIM:219150
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Arteria lusoria, Heart murmur, Anisocoria, Narrow palpebral fi...	OMIM:618653
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di...	OMIM:619825
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Vascular ring, Mitral regurgitation, Long palpebral fissure, Ptosis	OMIM:603387
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Orthostatic hypotension	OMIM:146500
Transketolase Deficiency	Cataract, Conjunctivitis, Uveitis	ORPHA:488618
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Patent ductus arterios...	OMIM:300166
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Retinitis Pigmentosa 72	Posterior subcapsular cataract	OMIM:616469
Agel Amyloidosis	Cataract, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Lattice corneal dystrophy, Corn...	ORPHA:85448
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant...	OMIM:612582
Scalp-Ear-Nipple Syndrome	Cataract, Congestive heart failure, Developmental cataract, Anisocoria, Hypertension, Supraventri...	OMIM:181270
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Macular coloboma	OMIM:619260
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi...	ORPHA:679
Pseudohypoparathyroidism, Type Ic	Cataract	OMIM:612462
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Cataract	OMIM:175500
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Telangiectasia of the skin	ORPHA:85321
Albinism-Deafness Syndrome	Heterochromia iridis	ORPHA:998
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Opacification of the...	OMIM:607014
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Farber Disease	Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Jaberi-Elahi Syndrome	Tremor, Cataract, Choreoathetosis, Dystonia	OMIM:617988
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi...	OMIM:618780
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Cataract, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Cardi...	OMIM:135500
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Head tremor	ORPHA:314404
Dysbetalipoproteinemia	Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial...	ORPHA:412
Cach Syndrome	Cataract	ORPHA:135
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cataract	ORPHA:544503
Short Stature-Micrognathia Syndrome	Astigmatism, Cataract	OMIM:617164
Congenital Heart Defects, Multiple Types, 6	Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri...	OMIM:613854
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy, Cataract	ORPHA:70595
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Pulmonic stenosis	OMIM:618223
19Q13.11 Microdeletion Syndrome	Microcornea, Cataract	ORPHA:217346
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity	ORPHA:579
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Moebius Syndrome	Corneal opacity	ORPHA:570
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Noonan Syndrome 10	Epicanthus, Mitral stenosis, Prominent corneal nerve fibers, Sparse eyebrow, Patent ductus arteri...	OMIM:616564
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Telecanthus, Tricuspid regurgitation, Synophrys, Coarctation of aorta, Peters anomaly, Downslante...	OMIM:618929
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Upslanted palpebral fissure, Astigmat...	OMIM:617159
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Pseudohypoparathyroidism, Type Ia	Cataract	OMIM:103580
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Autosomal Dominant Optic Atrophy, Classic Form	Cataract	ORPHA:98673
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Cardiomyopathy, Cataract, Opisthotonus	ORPHA:445038
Cat Eye Syndrome	Epicanthus, Patent ductus arteriosus, Total anomalous pulmonary venous return, Pulmonic stenosis,...	OMIM:115470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Atrioventricular block, Double outlet right ventricle, Abnormality of the orbital re...	ORPHA:371428
Retinitis Pigmentosa 60	Posterior subcapsular cataract	OMIM:613983
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Transposition of the great arteries	OMIM:231060
Werner Syndrome	Cataract	OMIM:277700
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Trisomy 1Q	Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum	ORPHA:261344
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Downslanted palpebral fissures, Abnormal aortic arc...	ORPHA:1110
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Superficial Siderosis	Anisocoria, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Mevalonic Aciduria	Nuclear cataract, Cataract	OMIM:610377
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus	OMIM:615297
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Mednik Syndrome	Cataract	OMIM:609313
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:268249
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Astigmatism, Blue irides, Ocular albinism	OMIM:203100
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Hurler Syndrome	Cardiomyopathy, Corneal opacity, Angina pectoris, Hypertension	ORPHA:93473
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Jacobsen Syndrome	Nasolacrimal duct obstruction, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphth...	OMIM:147791
Cowden Syndrome 5	Cataract, Intention tremor	OMIM:615108
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Blue irides, Diminished ability to concentrate, Recurrent han...	OMIM:615516
Cerebrotendinous Xanthomatosis	Cataract, Angina pectoris, Myocardial infarction	OMIM:213700
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage,...	OMIM:614424
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma, Cataract	OMIM:603457
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract	ORPHA:543470
Mowat-Wilson Syndrome	Cataract, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery stenosis, Microcorne...	OMIM:235730
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract	ORPHA:261584
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Corneal scarring, Keratoconjunctivitis sicca, Recurrent corneal erosions, Corneal ulce...	OMIM:148210
Cutis Laxa, Autosomal Recessive, Type Iiib	Athetosis, Developmental glaucoma, Cataract	OMIM:614438
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Microphthalmia, Tetralog...	ORPHA:306542
Neu-Laxova Syndrome 2	Cataract	OMIM:616038
Rabin-Pappas Syndrome	Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Oculodentodigital Dysplasia	Cataract, Uveitis, Microcornea, Microphthalmia, Arrhythmia	OMIM:164200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter...	OMIM:619351
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Corneal opacity	OMIM:253220
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend...	OMIM:617168
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arche...	OMIM:617506
Trisomy 18	Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3380
Hallermann-Streiff Syndrome	Cataract, Optic disc coloboma, Telangiectasia, Choreoathetosis, Hypertension, Pulmonary arterial ...	OMIM:234100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Cataract, Generalized dystonia, Dilated cardiomyopathy, Dystonia	OMIM:618321
20Q13.33 Microdeletion Syndrome	Epicanthus, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Hypoplastic aortic arch, Hem...	ORPHA:261311
Lathosterolosis	Microcornea, Cataract, Opacification of the corneal stroma	ORPHA:46059
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Keratitis, Retinal hemorrhage, Uveitis, Microphthalmia	OMIM:308300
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Ciliary Dyskinesia, Primary, 40	Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua...	OMIM:618300
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Bilateral ptosis, Prominent veins on trunk, Varicose veins, Keratoconjun...	ORPHA:536532
Cowden Syndrome 6	Cataract, Intention tremor	OMIM:615109
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria...	OMIM:253200
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness, ...	ORPHA:90354
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Left superior vena cava draining...	ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Long eyelashes, Coarctation of aorta	OMIM:616069
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Osteopathia Striata-Cranial Sclerosis Syndrome	Epicanthus, Aortic valve stenosis, Cataract, Coarctation of aorta	ORPHA:2780
Alg8-Cdg	Cataract	ORPHA:79325
Corneodermatoosseous Syndrome	Corneal dystrophy	ORPHA:3194
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Tremor, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Intention tremor	OMIM:614052
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract, Episodic hype...	OMIM:171300
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M...	OMIM:253280
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Zimmermann-Laband Syndrome	Cataract	ORPHA:3473
Rothmund-Thomson Syndrome, Type 2	Cataract, Telangiectasia, Microcornea, Microphthalmia, Zonular cataract	OMIM:268400
Cap Myopathy	Aortic root aneurysm, Reduced systolic function, Sinus tachycardia	ORPHA:171881
Pituitary Apoplexy	Hypertension, Hypotension, Mydriasis	ORPHA:95613
Behcet Syndrome	Raynaud phenomenon, Iridocyclitis, Chorioretinitis, Iritis, Hypopyon	OMIM:109650
22Q11.2 Duplication Syndrome	Epicanthus, Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Do...	ORPHA:1727
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Axial Spondylometaphyseal Dysplasia	Cataract	ORPHA:168549
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Skraban-Deardorff Syndrome	Right aortic arch, Sparse lateral eyebrow	OMIM:617616
Kniest Dysplasia	Cataract	OMIM:156550
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cataract	OMIM:220500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cataract, Epistaxis, Ocular albinism, Cardiomyopathy, Astigmatism, I...	ORPHA:79430
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Presenile cataracts	OMIM:112250
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Dystonia, Abnormal T-wav...	ORPHA:2131
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Anophthalmia, ...	ORPHA:2526
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Cockayne Syndrome Type 1	Anophthalmia, Cataract, Cryptorchidism, Conjunctivitis, Male hypogonadism	ORPHA:90321
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Joubert Syndrome 22	Microphthalmia, Coloboma, Retinal dysplasia	OMIM:615665
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac...	OMIM:300624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Cataract, Hand tremor	OMIM:157640
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Cataract	ORPHA:401973
Stevenson-Carey Syndrome	Microphthalmia, Coloboma, Downslanted palpebral fissures, Left superior vena cava draining to cor...	OMIM:611961
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm, Aortic tortuosity	OMIM:616166
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Mosaic Trisomy 1	Coarctation of aorta, Congenital bilateral ptosis, Opacification of the corneal stroma, Pulmonary...	ORPHA:1692
Fanconi Anemia	Cataract, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia, Hypertrophic cardiomyopathy	ORPHA:84
Neurofibromatosis Type 1	Cataract, Corneal opacity, Hypertension, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis	ORPHA:636
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Corneal opacity, Mitral regurgitation, Astigmatism	ORPHA:309282
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Arterial rupture	OMIM:612394
Stickler Syndrome, Type I	Cataract	OMIM:108300
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Tbck-Related Intellectual Disability Syndrome	Corneal opacity, Pulmonic stenosis	ORPHA:488632
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Choreoathetosis, Arrhythmia, Dystonia, Hypertrophic cardiomyopathy	OMIM:615471
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor...	OMIM:242900
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Corneal erosion, Conjunctivitis	ORPHA:91416
Microphthalmia, Syndromic 1	Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi...	OMIM:309800
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Chime Syndrome	Corneal opacity, Retinal coloboma	ORPHA:3474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Highly arched eyebrow, Congestive heart failure, Synophrys, Patent ductus arteriosus, A...	ORPHA:444077
Pseudohypoparathyroidism Type 1B	Laryngeal dystonia, Cataract, Conjunctivitis, Prolonged QT interval	ORPHA:94089
Cohen Syndrome	Microphthalmia, Chorioretinal dystrophy, Iris coloboma	ORPHA:193
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low...	ORPHA:363686
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Peripheral arteriovenous fistula, Ab...	ORPHA:286
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Upslanted palpebra...	ORPHA:2306
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Congestive heart failure, Arterial rupture, Microcornea, Aortic dissection, A...	ORPHA:1900
Oculodentodigital Dysplasia	Microcornea, Arrhythmia, Cataract, Abnormality iris morphology	ORPHA:2710
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Tricuspid regurgitation, Di...	ORPHA:2556
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Epicanthus, Dermatochalasis, Arterial rupture, Mitral regurgitation, Ble...	ORPHA:287
Trisomy 17P	Aortic valve stenosis, Cataract	ORPHA:261290
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity	ORPHA:464311
Yuan-Harel-Lupski Syndrome	Epicanthus, Upslanted palpebral fissure, Aortic root aneurysm, Double outlet right ventricle, Dow...	OMIM:616652
Holoprosencephaly	Epicanthus, Anophthalmia, Cyclopia, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted pa...	ORPHA:2162
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Congestive heart failure, Intracranial hemorrhage, Hypertension...	ORPHA:363618
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Downslanted palpebral fissures	OMIM:614846
Congenital Disorder Of Deglycosylation 1	Athetosis, Corneal ulceration, Corneal opacity, Action tremor	OMIM:615273
Cerebellofaciodental Syndrome	Cataract	OMIM:616202
Congenital Toxoplasmosis	Microphthalmia, Cognitive impairment	ORPHA:858
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Iridocyclitis, Cataract, Keratoconjunctivitis	OMIM:240300
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Corneal scarring	OMIM:301220
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Cenani-Lenz Syndrome	Cataract	ORPHA:3258
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract	ORPHA:90153
Joubert Syndrome 37	Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:619185
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Coarctation of aorta, Upslanted palpe...	OMIM:244450
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Developmental glaucoma, Aortic root aneurysm, Downslanted palpebral fissu...	OMIM:245600
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Micro...	OMIM:617914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Tremor, Athetosis, Cataract, Dystonia	OMIM:615356
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Knobloch Syndrome	Cataract, Ectopia lentis	ORPHA:1571
Hereditary Fructose Intolerance	Cataract	ORPHA:469
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Aortic root aneurysm, Downs...	OMIM:145420
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o...	ORPHA:1330
Saul-Wilson Syndrome	Cataract	OMIM:618150
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Arachnoid Cyst	Subarachnoid hemorrhage, Mydriasis	ORPHA:2356
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral stenosis, Hypoplastic aortic arch	ORPHA:2248
Juvenile Xanthogranuloma	Uveitis, Hyphema, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
2Q31.1 Microdeletion Syndrome	Microphthalmia, Coloboma, Optic disc coloboma, Iris coloboma	ORPHA:251014
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Carotid artery stenosis, Bilateral ptosis, Aortic root aneurysm, Thi...	OMIM:618000
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Megalocornea, Cataract	OMIM:601353
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:613884
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure,...	ORPHA:508498
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology	ORPHA:1166
Otospondylomegaepiphyseal Dysplasia	Cataract	ORPHA:1427
Craniotubular Dysplasia, Ikegawa Type	Phthisis bulbi, Mydriasis	OMIM:619727
Progeria-Short Stature-Pigmented Nevi Syndrome	Cataract, Supraventricular arrhythmia, Band keratopathy	ORPHA:2959
Larsen Syndrome	Corneal opacity	OMIM:150250
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Aor...	ORPHA:536471
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Aortic root aneurysm	OMIM:301039
Hallermann-Streiff Syndrome	Microphthalmia, Congestive heart failure, Uveitis, Developmental cataract	ORPHA:2108
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation	OMIM:619910
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Cataract, Aortic valve stenosis	OMIM:176690
Marshall Syndrome	Cataract, Ectopia lentis	ORPHA:560
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho...	ORPHA:3384
Treacher-Collins Syndrome	Blepharospasm, Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Myoclonic-Astatic Epilepsy	Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder	ORPHA:1942
Alkuraya-Kucinskas Syndrome	Cataract	OMIM:617822
Cowden Syndrome 1	Cataract, Intention tremor	OMIM:158350
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Tremor, Congestive heart failur...	ORPHA:466677
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Cataract, Anterior lenticonus	ORPHA:1018
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Classic Homocystinuria	Gastrointestinal hemorrhage, Cataract, Pulmonary embolism, Ectopia lentis, Intracranial hemorrhag...	ORPHA:394
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity	ORPHA:464306
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Microcornea, Ascending tubular aorta aneurysm, Aortic root aneurysm, St...	ORPHA:536467
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Epicanthus, Long eyelashes, Coarctation of aorta	OMIM:615502
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Atrioventricular block, Reduced left ventricular ejection fraction, Op...	ORPHA:581
Tricuspid Atresia	Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries...	ORPHA:1209
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r...	ORPHA:90348
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa...	ORPHA:910
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Blepharophimosis, Truncus arteriosus, Abnormal aortic morphology	ORPHA:2516
Osteopetrosis, Autosomal Recessive 5	Mydriasis	OMIM:259720
3-Methylglutaconic Aciduria, Type Viii	Tremor, Cataract, Bradycardia, Dystonia	OMIM:617248
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214100
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplas...	ORPHA:264200
Carpenter Syndrome 1	Microcornea, Pulmonic stenosis, Opacification of the corneal stroma	OMIM:201000
Alagille Syndrome 1	Cataract, Band keratopathy, Abnormal anterior chamber morphology, Tetralogy of Fallot, Chorioreti...	OMIM:118450
Moebius Syndrome	Hypogonadotropic hypogonadism, Dysphagia, Microphthalmia, Micropenis, Decreased testicular size	OMIM:157900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Congestive heart failure	ORPHA:508542
Aicardi Syndrome	Microphthalmia, Optic disc coloboma, Cataract, Chorioretinal lacunae	OMIM:304050
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Down Syndrome	Cataract	ORPHA:870
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo...	ORPHA:980
Ciliary Dyskinesia, Primary, 37	Right aortic arch	OMIM:617577
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Transaldolase Deficiency	Coarctation of aorta, Telangiectasia	ORPHA:101028
Heterotaxy, Visceral, 4, Autosomal	Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with...	OMIM:613751
17Q12 Microduplication Syndrome	Microphthalmia, Self-injurious behavior	ORPHA:261272
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe...	ORPHA:217085
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
X Small Rings	Epicanthus, Congenital stationary night blindness, Aortic root aneurysm, Long palpebral fissure, ...	ORPHA:96201
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Cataract, Tricuspid regurgitation, Brushfield spots, Heart murmur, Athetosi...	OMIM:614866
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Cryptorchidism	ORPHA:404440
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract, Pulmonary arterial hypertension, Portal hypertension	OMIM:620005
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Microcornea, Mitra...	OMIM:614557
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aortic arch, Truncus ar...	OMIM:617478
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Scalp-Ear-Nipple Syndrome	Hypertension, Cataract	ORPHA:2036
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe...	ORPHA:217093
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro...	ORPHA:191
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Epicanthus, Persistent left superior vena cava, Coarctation of aorta	OMIM:618494
Marshall Syndrome	Cataract, Lens luxation	OMIM:154780
Werner Syndrome	Cataract, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hypertension	ORPHA:902
Charge Syndrome	Aortic arch aneurysm, Epicanthus, Anophthalmia, Highly arched eyebrow, Patent ductus arteriosus, ...	ORPHA:138
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Monosomy 18Q	Epicanthus, Left-to-right shunt, Abnormal retinal morphology, Congestive heart failure, Patent du...	ORPHA:1600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Astigmatism, Cataract	OMIM:300968
Aortic Valve Disease 2	Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc...	OMIM:614823
Heart And Brain Malformation Syndrome	Microphthalmia, Interrupted aortic arch	OMIM:616920
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Dementia, Adrena...	ORPHA:43
8P23.1 Microdeletion Syndrome	Epicanthus, Patent ductus arteriosus, Pulmonary artery stenosis, Upslanted palpebral fissure, Abn...	ORPHA:251071
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe...	ORPHA:580
Boudin-Mortier Syndrome	Aortic root aneurysm	OMIM:619543
3P25.3 Microdeletion Syndrome	Epicanthus, Patent ductus arteriosus, Pulmonic stenosis, Blepharophimosis, Microphthalmia, Downsl...	ORPHA:435638
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta	ORPHA:261243
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension, Cataract	OMIM:617913
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Aortic root aneurysm, Upslanted palpebral fissure, Coarctation of ...	OMIM:617602
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Microcornea, Abnormality of the pulmonary artery, Iris coloboma, Iris ...	ORPHA:261552
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Lathosterolosis	Cataract, Opacification of the corneal stroma	OMIM:607330
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Sudden cardiac death, Myocardial infarction, Congestive h...	ORPHA:904
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Cataract	OMIM:616541
Double Outlet Right Ventricle	Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Narrow palpebral ...	ORPHA:3426
Myhre Syndrome	Cataract, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Narrow palpebral fissure,...	OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Narrow palpebral fissure, Aortic root aneurysm, Generalized arterial tortuos...	OMIM:614437
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abn...	ORPHA:449291
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Punctate corneal epithelial erosions	OMIM:103420
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Cardiomyopathy, Keratoconjunctivit...	ORPHA:33364
Hartsfield Syndrome	Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Prominent superficial vein...	ORPHA:363705
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:602501
Acute Zonal Occult Outer Retinopathy	Marcus Gunn pupil, Abnormal choroid morphology	ORPHA:284454
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Gaucher Disease	Tremor, Pulmonary arterial hypertension, Corneal opacity	ORPHA:355
Spondyloocular Syndrome	Posterior subcapsular cataract, Cataract	OMIM:605822
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary arte...	OMIM:620025
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Legius Syndrome	Cataract, Paroxysmal atrial tachycardia, Lisch nodules, Pulmonic stenosis, Dystonia	ORPHA:137605
Wilson Disease	Limb dystonia, Tremor, Hand tremor, Kayser-Fleischer ring, Dystonia	OMIM:277900
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia	OMIM:605627
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Epicanthus, Cataract, Optic disc pallor, Synophrys, Dilated cardiom...	OMIM:607872
Loeys-Dietz Syndrome 5	Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissection, Long palpebral fissure, ...	OMIM:615582
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the great arteries, Aplasia/Hyp...	ORPHA:1926
Chops Syndrome	Cataract	OMIM:616368
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Patent ductus arteriosus, Optic atrophy, Upslanted palpebral fissure, Coloboma, Peter...	OMIM:616975
Jacobsen Syndrome	Epicanthus, Ectropion, Cataract, Coarctation of aorta, Microcornea, Eyelid coloboma, Aortic valve...	ORPHA:2308
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio...	ORPHA:709
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Charge Syndrome	Cataract, Anophthalmia, Overriding aorta, Patent ductus arteriosus, Unilateral microphthalmos, Ri...	OMIM:214800
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A...	OMIM:263650
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At...	ORPHA:392
Relapsing Polychondritis	Pericarditis, Cataract, Keratitis, Myocarditis, Uveitis, Large vessel vasculitis, Conjunctivitis	ORPHA:728
Cardiac Diverticulum	Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul...	ORPHA:1686
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Scimitar Syndrome	Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl...	ORPHA:185
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension	ORPHA:2072
Codas Syndrome	Cataract, Developmental cataract	OMIM:600373
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Cataract, Cardiac conduction abnormality, Patent ductus arteriosus, Coarctation of aorta, Vascula...	ORPHA:353281
Miller-Dieker Lissencephaly Syndrome	Cataract	OMIM:247200
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Telangiectasia, Chorioretinal coloboma, Aniridia, Microphthalmia, I...	OMIM:305600
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology	ORPHA:93323
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta	OMIM:601612
Blomstrand Lethal Chondrodysplasia	Telecanthus, Cataract, Coarctation of aorta	ORPHA:50945
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Cataract, Congestive heart failure, Dystonia, Supravalvula...	ORPHA:90349
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Intracranial hemorrhage, Microphthalmia, Iris coloboma	OMIM:613406
Au-Kline Syndrome	Lagophthalmos, Hypertension, Aortic root aneurysm, Shallow orbits, Long palpebral fissure, Downsl...	OMIM:616580
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Renpenning Syndrome 1	Microphthalmia, Coloboma, Cataract	OMIM:309500
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Low frustration tolerance, Micropenis...	OMIM:300486
Vici Syndrome	Cataract, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Developmental catara...	OMIM:242840
Bardet-Biedl Syndrome 1	Hypertension, Astigmatism, Cataract	OMIM:209900
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Arrhythmia	ORPHA:3191
Heterotaxy, Visceral, 12, Autosomal	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex...	OMIM:619702
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Aort...	ORPHA:397
Proximal Renal Tubular Acidosis	Coloboma, Cataract, Hypovolemia, Band keratopathy	ORPHA:47159
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Cataract	ORPHA:444072
Pseudohypoparathyroidism Type 1C	Laryngeal dystonia, Cataract, Conjunctivitis, Prolonged QT interval	ORPHA:79444
Heterotaxy, Visceral, 6, Autosomal	Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp...	OMIM:614779
Wolf-Hirschhorn Syndrome	Megalocornea, Iris coloboma, Sclerocornea	ORPHA:280
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive b...	OMIM:620098
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Hypovolemia, Corneal crystals	ORPHA:411634
Distal Deletion 15Q	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno...	ORPHA:1596
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Upslanted palpebral fissure, Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Immunodeficiency 23	Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Monosomy 18P	Microphthalmia, Hypertension, Epicanthus, Ptosis	ORPHA:1598
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidis...	OMIM:607932
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Epicanthus, Optic nerve hypoplasia, Highly arched eyebrow, Patent du...	ORPHA:508488
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis	ORPHA:2273
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Aortic root aneurysm, Abnormal systemic arterial morphology, Dilatation of the cere...	ORPHA:730
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Patent ductus arteriosus, Nasolacrima...	OMIM:180849
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Small scrotum, Cryptorchidism	ORPHA:2728
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Coarctation of aorta, Microcornea, Coloboma, Long eyelashes, Evers...	ORPHA:2322
Pseudotrisomy 13 Syndrome	Upslanted palpebral fissure, Microphthalmia, Cyclopia, Coarctation of aorta	OMIM:264480
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition...	OMIM:620294
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Alzahrani-Kuwahara Syndrome	Astigmatism, Cataract	OMIM:619268
Myhre Syndrome	Hypertension, Cataract	ORPHA:2588
Blau Syndrome	Pericarditis, Cataract, Keratitis, Iridocyclitis, Large vessel vasculitis, Hypertension, Posterio...	ORPHA:90340
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Cardiac conduction abnormality, Highly arched eyebrow, Trichiasis, Patent ductus arteri...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Cardiac conduction abnormality, Highly arched eyebrow, Trichiasis, Patent ductus arteri...	ORPHA:353277
X-Linked Intellectual Disability, Armfield Type	Cataract	ORPHA:85276
Ritscher-Schinzel Syndrome 3	Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow, Chorioretinal coloboma	OMIM:619135
Conotruncal Heart Malformations	Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati...	OMIM:217095
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Aymé-Gripp Syndrome	Megalocornea, Cataract, Pericarditis, Developmental cataract	ORPHA:1272
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Cataract	ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Synophrys, Patent ductus arteriosus, Upslanted palpebral fissure, Aortic root aneurys...	ORPHA:280633
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L...	ORPHA:740
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract	OMIM:617403
Heterotaxy, Visceral, 7, Autosomal	Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti...	OMIM:616749
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Cataract, Band keratopathy, Choreoathetosis, Hypertension, Conjunctivitis,...	ORPHA:79443
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary artery stenosis, Patent ductus arteriosus, Pulmonary lymphangiectasia, Right-to-left sh...	OMIM:265380
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Upslanted palp...	ORPHA:163979
Smith-Lemli-Opitz Syndrome	Aplasia/Hypoplasia affecting the eye, Cataract, Iris coloboma, Sclerocornea	ORPHA:818
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta	OMIM:620210
Dent Disease	Cataract	ORPHA:1652
Yunis-Varon Syndrome	Cataract, Sclerocornea, Bilateral microphthalmos, Renovascular hypertension, Pulmonary arterial h...	ORPHA:3472
Galloway-Mowat Syndrome 3	Epicanthus, Coarctation of aorta, Hypertension, Microphthalmia, Downslanted palpebral fissures	OMIM:617729
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Penoscrotal trans...	OMIM:619148
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissecti...	ORPHA:666
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract	ORPHA:3042
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries	ORPHA:293181
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Septopreoptic Holoprosencephaly	Coarctation of aorta	ORPHA:280195
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,...	ORPHA:2052
Cockayne Syndrome A	Cataract, Tremor, Hypertension, Opacification of the corneal stroma, Arrhythmia	OMIM:216400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Ctcf-Related Neurodevelopmental Disorder	Epicanthus, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Coarctation of aorta, Mic...	ORPHA:363611
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Plague	Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis	ORPHA:707
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte...	OMIM:610168
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Epicanthus, Telecanthus, Patent ductus arteriosus, Coarctation of aorta, Upslanted palpebral fiss...	OMIM:617260
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula	ORPHA:2538
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Cataract, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid...	OMIM:613795
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cataract	OMIM:300990
Opitz Gbbb Syndrome	Telecanthus, Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Downslanted pa...	ORPHA:2745
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Cryptorchidism	OMIM:248700
Digeorge Syndrome	Sclerocornea, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch, Blepharophi...	OMIM:188400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Astigmatism, Retinal coloboma, Cataract	ORPHA:500095
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia	OMIM:268300
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Transaldolase Deficiency	Patent ductus arteriosus, Synophrys, Coarctation of aorta, Telangiectasia	OMIM:606003
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Supravalvar p...	OMIM:618164
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Myocardial infarction,...	ORPHA:117
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, Coarctation of aorta, Upslante...	OMIM:600987
Noonan Syndrome 2	Epicanthus, Abnormal coronary artery origin, Mitral stenosis, Sparse eyebrow, Patent ductus arter...	OMIM:605275
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral...	OMIM:252500
Cohen-Gibson Syndrome	Cataract	OMIM:617561
Spondylocarpotarsal Synostosis Syndrome	Cataract	OMIM:272460
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Methimazole Embryofetopathy	Abnormal aortic morphology, Coarctation of aorta	ORPHA:1923
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Meester-Loeys Syndrome	Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic...	OMIM:300989
Meacham Syndrome	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ...	OMIM:608978
Heterotaxy, Visceral, 1, X-Linked	Patent ductus arteriosus, Hypoplastic aortic arch, Double outlet right ventricle, Dextrotransposi...	OMIM:306955
Feingold Syndrome 1	Epicanthus, Tricuspid stenosis, Patent ductus arteriosus, Upslanted palpebral fissure, Narrow pal...	OMIM:164280
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Opacification of the corneal stroma	OMIM:601559
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation...	ORPHA:1120
Kabuki Syndrome 2	Epicanthus, Highly arched eyebrow, Coarctation of aorta, Long eyelashes, Pulmonic stenosis, Long ...	OMIM:300867
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa...	ORPHA:17
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Highly arched eyebrow, Synophrys, Conotruncal defect, Coarctation of aorta,...	ORPHA:96147
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Cherubism	Marcus Gunn pupil	OMIM:118400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Pulmonary arterial hypertension	OMIM:620186
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Cataract	ORPHA:247598
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri...	OMIM:617205
Frontometaphyseal Dysplasia	Abnormal cornea morphology, Astigmatism	ORPHA:1826
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch, Optic nerve hypoplasia, Upper eyelid entropion	ORPHA:457284
Joubert Syndrome 21	Anophthalmia, Dysphagia	OMIM:615636
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Nasolacrimal duct obstruction, Retinal coloboma, Microphthalmia, Iris col...	OMIM:113620
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Dilatation of the sinus of ...	ORPHA:1054
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Interrupted aortic arch, Blepharophimosis, Downslanted palpebral fissur...	OMIM:300712
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology	ORPHA:3405
2Q37 Microdeletion Syndrome	Sparse eyebrow, Upslanted palpebral fissure, Highly arched eyebrow, Abnormal aortic morphology	ORPHA:1001
Meckel Syndrome, Type 1	Patent ductus arteriosus, Coarctation of aorta, Microphthalmia, Epicanthus inversus, Iris colobom...	OMIM:249000
Cowden Syndrome	Cataract, Conjunctival hamartoma, Mucosal telangiectasiae	ORPHA:201
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Epicanthus, Coarctation of aorta, Blepharophimosis, Downslanted palpebral f...	OMIM:614114
Elsahy-Waters Syndrome	Megalocornea, Cataract, Phthisis bulbi	OMIM:211380
Primrose Syndrome	Posterior polar cataract	OMIM:259050
Viss Syndrome	Ptosis, Epidural hemorrhage, Tortuous cerebral arteries, Retinal detachment, Abnormal branching p...	OMIM:619472
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Epicanthus, Peripheral retinal avascularization, Pulmonary artery stenosis, Abnormal aortic arch ...	ORPHA:96334
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Congenital Tracheomalacia	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Right aortic arch, Abnormal ...	ORPHA:95430
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma...	ORPHA:391665
Loeys-Dietz Syndrome 1	Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an...	OMIM:609192
Feingold Syndrome Type 1	Patent ductus arteriosus, Interrupted aortic arch, Tricuspid stenosis, Short palpebral fissure	ORPHA:391641
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta...	OMIM:175050
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Diamond-Blackfan Anemia	Radial artery aplasia, Epicanthus, Developmental glaucoma, Developmental cataract, Coarctation of...	ORPHA:124
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Tremor, Pulmonic stenosis, Action tremor	ORPHA:3455
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Coarctation of aorta	OMIM:614300
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal eyebrow morphology, Epicanthus, Cataract, Patent ductus arteriosus...	ORPHA:1606
Momo Syndrome	Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb...	ORPHA:2563
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Optic disc coloboma, Coarctation of ...	OMIM:618454
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc...	ORPHA:402075
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Diamond-Blackfan Anemia 1	Epicanthus, Tricuspid stenosis, Congestive heart failure, Primary congenital glaucoma, Coarctatio...	OMIM:105650
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Cataract	OMIM:124000
Kleefstra Syndrome	Highly arched eyebrow, Pulmonary artery stenosis, Synophrys, Coarctation of aorta, Upslanted palp...	ORPHA:261494
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Aspartylglucosaminuria	Mitral regurgitation, Cataract	OMIM:208400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Eyelid coloboma, Bilateral microphthalmos, Optic nerve hypoplasia, Telecanthus	OMIM:607597
Fanconi Anemia, Complementation Group F	Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism	OMIM:603467
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Hypoplastic aortic arch, Upslanted palpebral fissure, Mitral regurgitati...	OMIM:157800
Fg Syndrome Type 1	Pulmonary arterial hypertension, Downslanted palpebral fissures, Optic nerve hypoplasia, Coarctat...	ORPHA:93932
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Abnormal coronary artery...	ORPHA:99094
Craniofacial Microsomia 1	Anophthalmia, Blepharophimosis, Patent ductus arteriosus, Upper eyelid coloboma, Coarctation of a...	OMIM:164210
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Pulmon...	ORPHA:99125
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Upslanted palpebral fissure, Varicose veins, Pulmonic stenosis, Aortic dissection, Vascular dilat...	OMIM:618343
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227650
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Fanconi Anemia, Complementation Group E	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:600901
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Developmental cataract, Hypertension, Pulmonary arterial hyper...	OMIM:606721
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Mic...	OMIM:613451
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Attention deficit hyperactivity...	OMIM:227646
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma	OMIM:608091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm	OMIM:618891
Dyskeratosis Congenita, X-Linked	Pterygium, Cataract, Conjunctivitis	OMIM:305000
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp...	ORPHA:2166
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the...	OMIM:208530
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Coarctation of aorta, Aborted sudden c...	OMIM:614921
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Antecubital pterygium, Popliteal pterygium, Total anomalous pulmonary venous return, ...	OMIM:609945
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Congenital Horner syndrome, Telecanthus, Portal hypertension, Asce...	OMIM:619503
Lesch-Nyhan Syndrome	Self-injurious behavior, Testicular atrophy, Dysphagia	OMIM:300322
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Epicanthus, Tachycardia, Developmental glaucoma, Coarctation of aorta	ORPHA:1772
Acrocardiofacial Syndrome	Truncus arteriosus, Coarctation of aorta, Long eyelashes, Mitral stenosis, Tetralogy of Fallot	ORPHA:2008
Toriello-Carey Syndrome	Telecanthus, Sparse eyebrow, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulm...	ORPHA:3338
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Optic disc hypoplasia, Coarctation of aorta	OMIM:300514
Gabriele-De Vries Syndrome	Telecanthus, Aortopulmonary collateral arteries, Sparse eyebrow, Epiblepharon, Downslanted palpeb...	OMIM:617557
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Cerebrooculofacioskeletal Syndrome 4	Blepharophimosis, Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Cerebral artery stenosis, Abnormal internal carotid artery morphology...	ORPHA:97685
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusoria, Left a...	OMIM:212093
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:614083
15Q11.2 Microdeletion Syndrome	Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta	ORPHA:261183
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta	OMIM:217085
Pagod Syndrome	Sudden cardiac death, Optic atrophy, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arr...	ORPHA:991
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic ...	OMIM:130050
Fanconi Anemia, Complementation Group C	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227645
Heart Defects, Congenital, And Other Congenital Anomalies	Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:600001
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Cataract, Pulmonary artery sling, Tetralogy of Fallot, Coarctation of aorta, Astigma...	ORPHA:261537
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypertrophic ...	OMIM:270400
Autosomal Recessive Robinow Syndrome	Epicanthus, Upslanted palpebral fissure, Abnormal aortic morphology, Long eyelashes, Long palpebr...	ORPHA:1507
Maternal Phenylketonuria	Epicanthus, Bilateral ptosis, Coarctation of aorta, Double outlet right ventricle, Tetralogy of F...	ORPHA:2209
Cystinosis, Nephropathic	Recurrent corneal erosions, Corneal crystals	OMIM:219800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Microphthalmia, Aortic valve stenosis, Ptosis	OMIM:272950
Meacham Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a...	ORPHA:3097
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	ORPHA:2255
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Increased axial length of the globe, Sparse lateral eyebrow	ORPHA:513456
Mowat-Wilson Syndrome	Telecanthus, Cataract, Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, As...	ORPHA:2152
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Tetrasomy 9P	Pericarditis, Epicanthus, Juxtaductal coarctation of the aorta, Abnormal chorioretinal morphology...	ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract	ORPHA:93271
Fontaine Progeroid Syndrome	Prominent superficial veins, Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Synop...	OMIM:612289
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Adams-Oliver Syndrome 1	Pulmonary artery stenosis, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Micr...	OMIM:100300
Cardiac-Urogenital Syndrome	Tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Interrupted aor...	OMIM:618280
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Mitral ...	ORPHA:284984
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Self-injurious beh...	ORPHA:468631
Loeys-Dietz Syndrome	Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec...	ORPHA:60030
Congenital Tracheal Stenosis	Ascending aorta hypoplasia, Patent ductus arteriosus, Preductal coarctation of the aorta, Pulmona...	ORPHA:141127
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Transient ischemic attack, Choroidal neovascularization, ...	ORPHA:51608
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga...	ORPHA:99228
Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga...	ORPHA:881
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Monosomy 9P	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr...	ORPHA:261112
Yunis-Varon Syndrome	Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension	OMIM:216340
Degcags Syndrome	Abnormal eyebrow morphology, Tachycardia, Abnormal eyelash morphology, Synophrys, Patent ductus a...	OMIM:619488
Hardikar Syndrome	Lacrimal duct stenosis, Portal hypertension, Hematemesis, Patent ductus arteriosus, Pulmonary art...	OMIM:301068
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ...	OMIM:270100
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Cataract, Downslanted palpebral fissures	OMIM:304120
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug...	ORPHA:672
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Nicolaides-Baraitser Syndrome	Absent eyebrow, Coarctation of aorta, Narrow palpebral fissure, Long eyelashes, Unilateral narrow...	OMIM:601358
Esophageal Atresia	Coloboma, Tetralogy of Fallot, Coarctation of aorta	ORPHA:1199
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Orofaciodigital Syndrome Vi	Epicanthus, Coarctation of aorta	OMIM:277170
Floating-Harbor Syndrome	Abnormal anterior chamber morphology, Persistent left superior vena cava, Tetralogy of Fallot, Co...	ORPHA:2044
Catel-Manzke Syndrome	Overriding aorta, Nasolacrimal duct obstruction, Coarctation of aorta, Upslanted palpebral fissur...	OMIM:616145
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta	OMIM:600460
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Noonan Syndrome 1	Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Hypertrophic cardi...	OMIM:163950
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Tetralogy of Fallot, Coarctation of aorta, Ptosis	OMIM:618748
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Epicanthus, Downslanted palpebral fissures, Coarctation of aorta	OMIM:619480
Igg4-Related Kidney Disease	Dacryocystitis, Pericarditis, Abnormal aortic morphology, Arteritis	ORPHA:449395
Mosaic Trisomy 16	Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta	ORPHA:1708
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Epicanthus, Downslanted palpebral fissures, Coarctation of aorta	OMIM:617088
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Coarctation of aort...	OMIM:147920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Coarctation of aorta, Hypertension, Mitral regurgitation, Hypertrophic car...	OMIM:220111
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Sparse eyebrow, Patent ductus arteriosus, Co...	OMIM:601803
Mullegama-Klein-Martinez Syndrome	Curly eyelashes, Coarctation of aorta	OMIM:301022
Holoprosencephaly 1	Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia	OMIM:236100
Robinow Syndrome	Pulmonic stenosis, Coarctation of aorta	ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyelashes, Sparse eyebrow, Coarctation of aorta, Hypertension, Tetralogy of Fallot	OMIM:210710
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology	OMIM:236680
Floating-Harbor Syndrome	Persistent left superior vena cava, Long eyelashes, Coarctation of aorta	OMIM:136140

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 Foxe3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Foxe3.

No publications found that use IMPC mice or data for Foxe3.

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
Foxe3^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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: Foxe3 MGI:1353569

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Foxe3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data