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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
abnormal skin morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Foxe3^em1(IMPC)Mbp	HOM	Early adult	1.26×10^-06
small testis	Foxe3^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Foxe3^em1(IMPC)Mbp	HOM	Early adult	3.42×10^-06
increased exploration in new environment	Foxe3^em1(IMPC)Mbp	HOM	Early adult	8.16×10^-05

Download data as: TSV XLS

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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

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X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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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 (1713 diseases)

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

Disease	Matching phenotypes	Source
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri...	ORPHA:91387
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Ascending aortic dissection, Descending 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
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
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
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, Persistent pupillary membrane, Megalocornea	OMIM:178900
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
X-Linked Retinoschisis	Cataract	ORPHA:792
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Galactosialidosis	Corneal opacity	ORPHA:351
Cataract 7	Developmental cataract	OMIM:115660
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Nathalie Syndrome	Cataract, Arrhythmia	ORPHA:2663
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hypertrophic cardiomyopathy	ORPHA:79281
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Trichomegaly	Cataract	OMIM:190330
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract, Sudden cardiac death, Arrhythmia	OMIM:212500
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Spastic Paraparesis And Deafness	Cataract, Tremor	OMIM:312910
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Morquio Syndrome C	Corneal opacity	OMIM:252300
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia, Tremor	OMIM:278780
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor	OMIM:165300
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c...	OMIM:604307
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M...	OMIM:610202
Gelatinous Drop-Like Corneal Dystrophy	Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy	Developmental cataract	OMIM:619354
Aniridia 3	Cataract, Aniridia	OMIM:617142
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Lens subluxation, Cataract	ORPHA:171844
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst	OMIM:620086
Cataract 6, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:116600
Winchester Syndrome	Corneal opacity	OMIM:277950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris co...	ORPHA:1473
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central 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
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,...	OMIM:614195
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Galactosemia Ii	Cataract	OMIM:230200
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Nathalie Syndrome	Cataract, Abnormal EKG	OMIM:255990
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Galactosemia Iv	Cataract	OMIM:618881
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Norrie Disease	Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L...	OMIM:310600
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Nasolacrimal duct obs...	OMIM:612109
Gms Syndrome	Rieger anomaly, Tricuspid regurgitation	ORPHA:2090
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Posterior polar cataract	OMIM:613763
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Weill-Marchesani Syndrome 3	Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha...	OMIM:614819
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma	OMIM:610023
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Choreoathetosis,...	OMIM:278730
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Dystonia, Developmental cataract	OMIM:618284
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Developmental cataract	ORPHA:2572
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Developmental cataract	ORPHA:1375
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Coloboma, Microphthalmia, Cataract	ORPHA:1617
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	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
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Spondylo-Ocular Syndrome	Cataract, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Developmental glaucoma, Aniridia	OMIM:206750
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Corneal Dystrophy, Lattice Type Iiia	Lattice corneal dystrophy, Corneal erosion	OMIM:608471
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Hypertension, Ectopia pupillae	ORPHA:1885
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea	ORPHA:3214
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori...	ORPHA:231736
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Waardenburg Syndrome, Type 2A	Heterochromia iridis, Hypoplastic iris stroma	OMIM:193510
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
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
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Developmental cataract	OMIM:618808
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Exudative Vitreoretinopathy 6	Cataract, Cortical cataract, Nuclear cataract	OMIM:616468
Cataract 47	Cataract, Microcornea	OMIM:612018
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy	ORPHA:1369
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio...	OMIM:618815
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Coloboma	ORPHA:324416
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Remna...	OMIM:221900
Developmental And Epileptic Encephalopathy 35	Cataract, Limb tremor, Cardiomyopathy	OMIM:616647
Spastic Paraplegia 64, Autosomal Recessive	Developmental cataract	OMIM:615683
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Blue Cone Monochromatism	Corneal dystrophy	ORPHA:16
X-Linked Recessive Ocular Albinism	Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal pupil morphology, Ocular al...	ORPHA:54
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Chorioretinal coloboma, Iris coloboma	OMIM:601706
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Hec Syndrome	Developmental cataract, Cardiomyopathy, Abnormal pupil morphology, Arrhythmia	ORPHA:2119
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Morm Syndrome	Cataract	ORPHA:75858
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Uveal Melanoma	Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma, Vit...	ORPHA:39044
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization	OMIM:615225
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia, Retinal coloboma	ORPHA:363741
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Mucolipidosis Iv	Opacification of the corneal stroma, Dystonia, Corneal opacity	OMIM:252650
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Retinal coloboma	OMIM:601794
N Syndrome	Megalocornea	ORPHA:2608
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris	ORPHA:782
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Congenital Rubella Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia, Chorioretinal dysplasia	OMIM:251270
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly	OMIM:109120
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Glial remnants anteri...	ORPHA:91495
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Traboulsi Syndrome	Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma	OMIM:212550
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cataract 48	Cataract	OMIM:618415
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi...	OMIM:615184
Wagner Vitreoretinopathy	Cataract, Chorioretinal atrophy	OMIM:143200
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris c...	ORPHA:139471
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri...	OMIM:180500
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Uveitis	OMIM:617388
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Keratoconjunctivitis, Cataract, Opacification of the corneal ...	OMIM:158310
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Neovascular Glaucoma	Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere...	ORPHA:94058
Alexander Disease	Microcoria	OMIM:203450
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism	ORPHA:231183
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Microcornea, Coloboma, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Stickler Syndrome, Type V	Cataract	OMIM:614284
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Sutural cataract	OMIM:201470
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cofs Syndrome	Cataract, Microphthalmia	ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Coloboma, Microphthalmia, Corneal opacity	OMIM:613153
Nail-Patella Syndrome	Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign	OMIM:161200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Cardiomyopathy	OMIM:615352
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma	ORPHA:1643
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:195
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
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
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Intermediate Uveitis	Band keratopathy, Vasculitis, Anterior uveitis, Cataract, Posterior synechiae of the anterior cha...	ORPHA:279914
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Developmental cataract	OMIM:607674
Hurler-Scheie Syndrome	Corneal opacity, Cardiomyopathy	ORPHA:93476
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Microcoria, H...	OMIM:609049
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia, Intention tremor	ORPHA:48431
Idiopathic Panuveitis	Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Choroidal neovascu...	ORPHA:280921
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, ...	OMIM:615145
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Sveinsson Chorioretinal Atrophy	Astigmatism, Peripapillary chorioretinal atrophy	OMIM:108985
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris	OMIM:249310
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Harel-Yoon Syndrome	Developmental cataract, Dystonia, Corneal opacity, Hypertrophic cardiomyopathy	OMIM:617183
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Chorioretinal lacu...	OMIM:152950
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Ectopia lentis, Shallow anterior chamber	OMIM:129600
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation, Cardiomyopathy	ORPHA:67048
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Abnormal left ventricular function, Cardiomyopathy, Microphthalmia	OMIM:613155
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Choriocapillaris atrophy, Cataract	OMIM:613835
Developmental And Epileptic Encephalopathy 73	Cataract	OMIM:618379
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea,...	OMIM:175780
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Microspherophakia, Optic nerve hypoplasia, Severely reduced left ventri...	OMIM:620609
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Chondrodysplasia-Difference Of Sex Development Syndrome	Chorioretinal coloboma, Hypoplasia of the iris	ORPHA:1422
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Cataract, Pulmon...	ORPHA:1345
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract	ORPHA:329314
1Q21.1 Microduplication Syndrome	Cataract	ORPHA:250994
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Dystonia, Choreoathetosis	OMIM:614932
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microphthalmia, Astigmatism	OMIM:619694
Sialidosis Type 2	Tremor, Corneal opacity	ORPHA:87876
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Microphthalmia, Sclerocornea, Hypoplasia of the iris	OMIM:613001
Cataract-Ataxia-Deafness Syndrome	Tremor, Developmental cataract	ORPHA:1368
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Retinitis Pigmentosa 84	Cataract, Macular coloboma	OMIM:618220
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Nephroblastoma	Hypertension, Aniridia	ORPHA:654
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity, Short attention span	OMIM:608443
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract	ORPHA:90050
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function	OMIM:618805
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short attention span	DECIPHER:19
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Achromatopsia 3	Cataract	OMIM:262300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Microcornea, Coloboma, Cataract	OMIM:617306
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Vitreoretinochoroidopathy	Microphthalmia, Microcornea, Abnormality of chorioretinal pigmentation, Developmental cataract, V...	OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Nivelon-Nivelon-Mabille Syndrome	Optic disc coloboma, Hypoplasia of the iris	OMIM:600092
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Oculocutaneous Albinism Type 6	Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation	ORPHA:370097
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Albinism, Oculocutaneous, Type Iv	Blue irides, Macular hypoplasia	OMIM:606574
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract	OMIM:617404
Cerebrooculofacioskeletal Syndrome 2	Cataract, Microphthalmia, Developmental cataract	OMIM:610756
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Cataract	OMIM:610125
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cataract	OMIM:617393
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract, Cardiomyopathy	OMIM:301075
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Dystonia	ORPHA:101006
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ...	OMIM:132900
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi...	ORPHA:891
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Tietz Albinism-Deafness Syndrome	Blue irides, Heterochromia iridis	OMIM:103500
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Developmental cataract	ORPHA:330054
Waardenburg Syndrome, Type 2B	Heterochromia iridis	OMIM:600193
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Microphthalmia, Astigmatism, Ectopia pupillae	OMIM:618727
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Juvenile cataract	ORPHA:500545
Donnai-Barrow Syndrome	Cataract, Iris coloboma, Hypoplasia of the iris	OMIM:222448
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Iris coloboma	ORPHA:2611
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma	OMIM:615147
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Autosomal Recessive Spastic Paraplegia Type 25	Developmental glaucoma, Developmental cataract	ORPHA:101005
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cataract, Intention tremor	OMIM:224050
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mevalonic Aciduria	Cataract	ORPHA:29
Oculo-Palato-Cerebral Syndrome	Cataract, Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Iris coloboma	OMIM:613702
Waardenburg Syndrome, Type 2E	Heterochromia iridis, Hypoplasia of the iris, Iris hypopigmentation, Blue irides, Ocular albinism	OMIM:611584
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Posterior subcapsular cataract, Microcornea, Chorioretinal degeneration	OMIM:615458
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Schwannomatosis, Vestibular	Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Cataract, Co...	OMIM:101000
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy	ORPHA:496790
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Intention tremor	OMIM:614307
Dermatitis, Atopic	Cataract, Keratoconus, Conjunctivitis	OMIM:603165
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Temtamy Syndrome	Microphthalmia, Aortic regurgitation, Aortic aneurysm, Highly arched eyebrow, Lens luxation, Ecto...	OMIM:218340
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Increased axial length of the globe, Shallow anterior chamber, Chorioretinal colobom...	OMIM:602499
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Hypertrophic cardiomyopathy	ORPHA:3173
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Cataract, Mitral regurgitation	ORPHA:3449
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplasia of the fovea	OMIM:619165
Senior-Loken Syndrome	Cataract, Hypertension	ORPHA:3156
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Frontofacionasal Dysplasia	Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Kleeblattschaedel	Recurrent corneal erosions	OMIM:148800
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
X-Linked Intellectual Disability, Miles-Carpenter Type	Microcornea	ORPHA:85283
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Concentric hypertrophic cardiomyopathy	OMIM:204200
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Coloboma, Corneal opacity, Conjunctival hyperemia, Cata...	ORPHA:2399
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Iris coloboma	ORPHA:1259
Leber Congenital Amaurosis 1	Cataract, Keratoconus	OMIM:204000
Proteus-Like Syndrome	Cataract, Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology	ORPHA:2969
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Anterior polar cataract	OMIM:104200
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Flynn-Aird Syndrome	Cataract	OMIM:136300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Stiff Skin Syndrome	Cataract	OMIM:184900
Trisomy 12P	Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the iris	ORPHA:1699
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Fatty Acyl-Coa Reductase 1 Deficiency	Juvenile cataract	ORPHA:438178
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Baralle-Macken Syndrome	Cataract, Dystonia	OMIM:619255
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia, Leukocoria	OMIM:219250
Coats Disease	Retinal telangiectasia, Leukocoria	OMIM:300216
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Microcornea	ORPHA:2536
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Corneal opacity, Aortic regurgitation	OMIM:607016
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Aortic Aneurysm, Familial Thoracic 6	Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Iris flocculi, A...	OMIM:611788
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
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
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
Morning Glory Disc Anomaly	Cataract, Optic disc coloboma	ORPHA:35737
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Persistent left superior vena cava...	OMIM:609008
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Short Syndrome	Cataract, Rieger anomaly, Astigmatism, Megalocornea	OMIM:269880
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Lissencephaly 5	Cataract	OMIM:615191
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Combined Oxidative Phosphorylation Deficiency 31	Cataract, Hypertrophic cardiomyopathy	OMIM:617228
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Birdshot Chorioretinopathy	Cataract, Abnormal chorioretinal morphology, Choroidal neovascularization, Abnormal choroid morph...	ORPHA:179
Familial Dysautonomia	Corneal erosion, Orthostatic hypotension, Hypertension, Corneal opacity, Heterochromia iridis, Ta...	ORPHA:1764
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Retinitis Pigmentosa 2	Cataract, Chorioretinal degeneration	OMIM:312600
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity, Aortic regurgitation	ORPHA:309288
Trisomy 13	Microphthalmia, Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Iris coloboma	ORPHA:3378
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,...	OMIM:305390
Wagro Syndrome	Cataract, Hypertension, Corneal opacity, Aniridia	OMIM:612469
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Kniest Dysplasia	Cataract, Lens luxation, Aplasia/Hypoplasia of the lens	ORPHA:485
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Sialidosis Type 1	Cataract, Tremor, Corneal opacity	ORPHA:812
Facial Spasm	Anisocoria	OMIM:134300
Monilethrix	Cataract	ORPHA:573
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor	OMIM:270800
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract	OMIM:615704
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Phace Syndrome	Abnormal carotid artery morphology, Retinal vascular malformation, Microphthalmia, Abnormality of...	ORPHA:42775
Lcat Deficiency	Corneal opacity	ORPHA:650
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation	ORPHA:2513
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Rothmund-Thomson Syndrome, Type 1	Juvenile cataract	OMIM:618625
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Phenylketonuria	Cataract, Blue irides	OMIM:261600
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Anterior polar cataract	OMIM:620510
Autosomal Dominant Optic Atrophy And Cataract	Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular cataract, Catar...	ORPHA:67036
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
8Q21.11 Microdeletion Syndrome	Microphthalmia, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract	ORPHA:284160
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Subcapsular cataract, Intention tremor	OMIM:612674
Palmoplantar Keratoderma And Congenital Alopecia 2	Developmental cataract	OMIM:212360
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Dystonia	OMIM:230650
Frontonasal Dysplasia 1	Cataract, Coloboma, Microphthalmia	OMIM:136760
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Coloboma, Corneal opacity, Ectopia pupillae, Lens subluxation	ORPHA:85167
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri...	ORPHA:91387
Histiocytoid Cardiomyopathy	Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial ...	ORPHA:137675
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Hand tremor	OMIM:162400
Phosphoglycerate Dehydrogenase Deficiency	Developmental cataract	OMIM:601815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Coloboma, Microphthalmia, Abnormally large globe	OMIM:615249
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma	ORPHA:77298
Kid Syndrome	Corneal neovascularization, Corneal erosion, Limbal stem cell deficiency, Punctate keratitis, Ker...	ORPHA:477
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys...	ORPHA:229
Encephalopathy Due To Sulfite Oxidase Deficiency	Ectopia lentis	ORPHA:833
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Coloboma, Microphthalmia	OMIM:612379
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Premature coronary artery atherosclerosis, Right aortic arch, Hypertension, ...	OMIM:300845
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma	OMIM:618914
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Phace Association	Optic atrophy, Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Coar...	OMIM:606519
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Posterior subcapsular cataract	OMIM:300619
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Microcornea, Corneal opacity, Cataract, Chorioretinal dysplasia, Ir...	ORPHA:899
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Leg dystonia, Oculogyric crisis	OMIM:607371
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction, Dilatation of the cerebral artery, Vascular dilatation, Common car...	OMIM:613834
Scheie Syndrome	Corneal opacity, Aortic regurgitation	ORPHA:93474
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Coloboma, Cardiomyopathy, Me...	ORPHA:370959
Oculocerebral Hypopigmentation Syndrome, Cross Type	Athetosis, Corneal opacity, Choroideremia, Aplasia/Hypoplasia affecting the eye, Iris hypopigment...	ORPHA:2719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:613154
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Hemochromatosis, Type 4	Cataract, Cardiomyopathy, Arrhythmia	OMIM:606069
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Primary congenital glaucoma, Buphthalmos	ORPHA:521445
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Optic nerve hypoplasia, Anisocoria, Cataract, Abnormal pupil shape	ORPHA:45358
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Chorioretinal coloboma, Iris coloboma	ORPHA:3265
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis	ORPHA:66633
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Iris...	OMIM:115250
Alagille Syndrome	Keratoconus, Corneal dystrophy, Hypertension, Telangiectasia of the skin, Abnormal pupil morphology	ORPHA:52
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
Intestinal Botulism	Mydriasis	ORPHA:178481
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness	OMIM:618175
Congenital Fibrinogen Deficiency	Microphthalmia, Internal hemorrhage, Developmental cataract, Opisthotonus, Tachycardia	ORPHA:335
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Ectopia lentis	ORPHA:2325
Congenital Sialidosis Type 2	Corneal opacity, Developmental cataract, Hypoplasia of the fovea, Cataract, Abnormal EKG, Telangi...	ORPHA:93400
Myopathy, Myofibrillar, 2	Cataract, Hypertrophic cardiomyopathy	OMIM:608810
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Aortic regurgitation	OMIM:616603
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Cataract, Prolonged QT interval	OMIM:615351
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Aorto-Ventricular Tunnel	Congestive heart failure, Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Aorto-v...	ORPHA:3400
Noonan Syndrome 9	Pulmonic stenosis, Ptosis, Coarctation of aorta, Downslanted palpebral fissures, Prominent cornea...	OMIM:616559
Sympathetic Ophthalmia	Posterior uveitis, Anterior chamber cells, Retinal hemorrhage, Corneal keratic precipitates, Cata...	ORPHA:79098
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma, Tricuspid regurgitation, Epicanthus, Patent ductus arteriosus, Peters a...	OMIM:618652
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Focal Dermal Hypoplasia	Microphthalmia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Chorioretinal coloboma, ...	ORPHA:2092
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Galloway-Mowat Syndrome 1	Cataract, Opacification of the corneal stroma, Microphthalmia, Hypoplasia of the iris	OMIM:251300
Crome Syndrome	Developmental cataract	OMIM:218900
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Sengers Syndrome	Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Developmental catar...	OMIM:212350
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly	OMIM:270450
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Peroxisome Biogenesis Disorder 9B	Cataract, Cardiomyopathy	OMIM:614879
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract	ORPHA:1264
Herpes Simplex Virus Stromal Keratitis	Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He...	ORPHA:137599
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Intention tremor, Tortuosity of conjunctival vessels	ORPHA:284289
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract	ORPHA:369840
Pontocerebellar Hypoplasia, Type 16	Cataract	OMIM:619527
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Primary Non-Essential Cutis Verticis Gyrata	Developmental cataract	ORPHA:357225
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus	OMIM:245900
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microphthalmia, Dystonia	OMIM:614105
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Norrie Disease	Abnormal chorioretinal morphology, Microphthalmia, Aplasia/Hypoplasia of the lens, Corneal opacit...	ORPHA:649
Alport Syndrome 2, Autosomal Recessive	Cataract, Hypertension, Anterior lenticonus, Corneal erosion	OMIM:203780
Duane Retraction Syndrome	Aniridia, Optic disc hypoplasia, Microcornea, Hypoplastic iris stroma, Chorioretinal coloboma, Ce...	ORPHA:233
Familial Isolated Hypoparathyroidism	Cataract, Arrhythmia	ORPHA:2238
Waardenburg Syndrome, Type 1	Blue irides, Heterochromia iridis, Hypoplastic iris stroma	OMIM:193500
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract	OMIM:617481
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Corneal opacity, Ectopia pupillae, Optic disc coloboma, Lens subluxation	OMIM:608940
Oculofaciocardiodental Syndrome	Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Brittle Cornea Syndrome 1	Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus	OMIM:229200
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor	OMIM:616586
Warburg Micro Syndrome 2	Cataract, Microcornea, Microphthalmia, Developmental cataract	OMIM:614225
Achondrogenesis Type 2	Cataract, Lens subluxation	ORPHA:93296
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Bietti Crystalline Dystrophy	Choriocapillaris atrophy, Crystalline corneal dystrophy, Chorioretinal degeneration	ORPHA:41751
Wound Botulism	Mydriasis, Cardiac arrest	ORPHA:178475
Classic Phenylketonuria	Cataract, Tremor	ORPHA:79254
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma	ORPHA:2185
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Weill-Marchesani Syndrome 1	Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha...	OMIM:277600
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Iris coloboma	ORPHA:3301
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Abruzzo-Erickson Syndrome	Coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Abnormal aortic...	ORPHA:860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract	ORPHA:2772
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris...	OMIM:243605
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Rhizomelic Chondrodysplasia Punctata	Cataract	ORPHA:177
Peroxisome Biogenesis Disorder 7A (Zellweger)	Cataract	OMIM:614872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Iatrogenic Botulism	Mydriasis, Orthostatic hypotension	ORPHA:254509
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Macular coloboma, Chorio...	ORPHA:364055
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Maternal Uniparental Disomy Of Chromosome 1	Cataract	ORPHA:251009
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
Warburg Micro Syndrome 3	Microphthalmia, Microcornea, Shallow anterior chamber, Developmental cataract, Cataract	OMIM:614222
Hurler-Scheie Syndrome	Corneal opacity, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:607015
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Tricuspid regurgitation, Mitral regurgit...	ORPHA:1101
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Lattice corneal dystro...	OMIM:105120
4H Leukodystrophy	Cataract, Tremor, Dystonia	ORPHA:289494
Srd5A3-Cdg	Cataract, Coloboma, Optic disc hypoplasia	ORPHA:324737
Combined Oxidative Phosphorylation Deficiency 47	Cataract	OMIM:618958
Arterial Tortuosity Syndrome	Ischemic stroke, Short palpebral fissure, Astigmatism, Aortic regurgitation, Aortic root aneurysm...	OMIM:208050
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Alg3-Cdg	Cataract, Cardiomyopathy, Coarctation of the descending aortic arch	ORPHA:79321
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Full Schwannomatosis	Cataract	ORPHA:93921
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Athetosis, Lingual dystonia, Corneal scarring, Action tremor, Dystonia	ORPHA:404454
Dentici-Novelli Neurodevelopmental Syndrome	Cataract	OMIM:619877
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract	ORPHA:3137
Nephronophthisis 11	Anisocoria	OMIM:613550
Prune1-Related Neurological Syndrome	Cataract, Hypertrophic cardiomyopathy	ORPHA:544469
Zellweger Syndrome	Abnormal chorioretinal morphology, Corneal opacity, Posterior embryotoxon, Brushfield spots, Cata...	ORPHA:912
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Dystonia	OMIM:619286
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Refsum Disease	Cataract, Microphthalmia, Heart block, Cardiomyopathy	ORPHA:773
Vitamin K Antagonist Embryofetopathy	Cataract, Aplasia/Hypoplasia affecting the eye	ORPHA:1914
Stickler Syndrome, Type Iv	Cataract, Astigmatism, Chorioretinal degeneration	OMIM:614134
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Head tremor	ORPHA:320391
Mass Syndrome	Ectopia lentis	OMIM:604308
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia	ORPHA:79107
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Kapur-Toriello Syndrome	Cataract, Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:244300
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Knobloch Syndrome 1	Iris transillumination defect, Band keratopathy, Persistent pupillary membrane, Developmental cat...	OMIM:267750
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Developmental cataract	OMIM:259410
Neonatal Adrenoleukodystrophy	Cataract	ORPHA:44
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Retinitis Pigmentosa 13	Subcapsular cataract	OMIM:600059
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Dubowitz Syndrome	Microphthalmia, Iris coloboma, Megalocornea, Hypoplasia of the iris	OMIM:223370
Microphthalmia, Lenz Type	Microphthalmia, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Cataract, Iris coloboma	ORPHA:568
Trichothiodystrophy 3, Photosensitive	Cataract, Microphthalmia, Developmental cataract	OMIM:616395
Weill-Marchesani Syndrome 2	Congestive heart failure, Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Pulmonic s...	OMIM:608328
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:258870
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract	ORPHA:1387
Cadds	Cataract, Dystonia	ORPHA:369942
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Dilated cardiomyopathy	ORPHA:272
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Microphthalmia, Astigmatism, Retinal coloboma	OMIM:618571
Huppke-Brendel Syndrome	Developmental cataract	OMIM:614482
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Subcapsular cataract	OMIM:601813
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Keratitis, Conjunctivitis	OMIM:612843
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Ocular anterior segment dysgenesis, Iris coloboma	OMIM:601427
Fucosidosis	Corneal opacity	ORPHA:349
Stickler Syndrome, Type Ii	Cataract	OMIM:604841
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma	ORPHA:494344
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage, Cataract, Dilated cardiomyopathy	ORPHA:280679
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca	OMIM:619016
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Posterior embryotoxon, Anterior polar cataract, Hypoplasia of the iris	OMIM:619194
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Mucolipidosis Type Iii Alpha/Beta	Congestive heart failure, Corneal opacity, Aortic regurgitation, Mitral regurgitation	ORPHA:423461
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Sclerocorn...	OMIM:300952
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract	ORPHA:3085
Infantile Refsum Disease	Cataract, Cardiomyopathy, Arrhythmia	ORPHA:772
Muscle-Eye-Brain Disease	Cataract	ORPHA:588
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Frontorhiny	Cataract, Microphthalmia, Iris coloboma	ORPHA:391474
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos	ORPHA:370997
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Anisocoria	OMIM:231550
Myotonic Dystrophy 1	Cataract, First degree atrioventricular block, Atrial flutter, Atrial fibrillation	OMIM:160900
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Cystinosis	Corneal opacity, Portal hypertension	ORPHA:213
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Developmental cataract	OMIM:616834
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Macular coloboma, Coarctation of aorta, Retinal coloboma	OMIM:107550
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Dystonia, Iris coloboma	OMIM:607906
Mend Syndrome	Cataract, Anterior polar cataract	OMIM:300960
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,...	ORPHA:67042
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Botulism	Mydriasis, Arrhythmia	ORPHA:1267
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Upper eyelid coloboma, Telecanthus, Coloboma, Conjunctival hyperemia, Absent lacr...	OMIM:167730
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis	ORPHA:85410
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Hypertrophic cardiomyopathy, Heart murmur	OMIM:615418
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Waardenburg Syndrome, Type 4B	Blue irides, Heterochromia iridis	OMIM:613265
Sanjad-Sakati Syndrome	Aplasia/Hypoplasia affecting the eye, Astigmatism, Corneal opacity	ORPHA:2323
Retinitis Pigmentosa 46	Posterior subcapsular cataract	OMIM:612572
Inhalational Botulism	Mydriasis	ORPHA:254504
Refsum Disease, Classic	Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia	OMIM:610651
Metatropic Dysplasia	Cataract	ORPHA:2635
Harlequin Ichthyosis	Cataract, Sudden cardiac death	ORPHA:457
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Short Stature, Developmental Delay, And Congenital Heart Defects	Developmental cataract, Uveitis	OMIM:617044
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Ectopia lentis, Epicanthus	OMIM:130000
Ermine Phenotype	Abnormal iris pigmentation	OMIM:227010
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short palpebral fissure, Astigmatism, Synophrys, Pulmonic stenosis, Coarctation of aorta, Downsla...	ORPHA:284169
Methionine Malabsorption Syndrome	Blue irides	OMIM:250900
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microcornea, Microphthalmia	ORPHA:2505
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Corneal opacity	OMIM:163200
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Distal Duplication 14Q	Abnormal aortic morphology, Patent ductus arteriosus	ORPHA:1705
Bardet-Biedl Syndrome 9	Cataract, Astigmatism	OMIM:615986
Marsili Syndrome	Corneal scarring	OMIM:147430
Loeys-Dietz Syndrome 4	Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A...	OMIM:614816
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Cataract	ORPHA:1856
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Foodborne Botulism	Mydriasis, Arrhythmia	ORPHA:228371
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Abnormal carotid artery morphology, Short palpebral fissur...	ORPHA:3342
Autosomal Dominant Spastic Paraplegia Type 9B	Focal dystonia, Developmental cataract, Postural tremor	ORPHA:447757
Baraitser-Winter Syndrome 1	Microphthalmia, Highly arched eyebrow, Aortic valve stenosis, Ptosis, Long palpebral fissure, Cho...	OMIM:243310
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Iris coloboma	OMIM:155145
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Abn...	ORPHA:2396
Atelis Syndrome 1	Cataract	OMIM:620184
Micro Syndrome	Cataract, Microcornea, Microphthalmia, Retinal coloboma	ORPHA:2510
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Distal Duplication 6P	Cataract, Aplasia/Hypoplasia affecting the eye	ORPHA:1745
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia	OMIM:214150
Bare Lymphocyte Syndrome, Type I	Ectopia lentis	OMIM:604571
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he...	ORPHA:231160
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Flynn-Aird Syndrome	Cataract	ORPHA:2047
Phaver Syndrome	Hypoplastic aortic arch, Pterygium, Pulmonary artery atresia, Downslanted palpebral fissures, Coa...	ORPHA:2876
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Infant Botulism	Mydriasis, Hypertension, Cardiac arrest, Hypotension, Keratoconjunctivitis sicca	ORPHA:178478
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Flat cornea	OMIM:618283
Cockayne Syndrome B	Microphthalmia, Microcornea, Hypertension, Hypoplasia of the iris, Developmental cataract, Arrhyt...	OMIM:133540
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:602772
Intellectual Developmental Disorder, Autosomal Dominant 67	Astigmatism, Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit h...	OMIM:619927
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Ectropion, Microphthalmia, Corneal ulceration, Distichiasis, Conjunct...	OMIM:153400
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Lacrimal gland aplasia, Corneal ulceratio...	ORPHA:2363
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Joint Laxity, Short Stature, And Myopia	Chorioretinal coloboma, Iris coloboma	OMIM:617662
Marfan Syndrome	Congestive heart failure, Astigmatism, Aortic regurgitation, Microspherophakia, Tricuspid regurgi...	OMIM:154700
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2250
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Tremor	OMIM:608093
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma, Dystonia	OMIM:251290
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Interrupted aortic arch, Blepharophimosis, Pulmona...	OMIM:192430
Nanophthalmos	Microphthalmia	ORPHA:35612
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect	OMIM:615179
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Conjunctivitis, Cataract, Laryngeal dystonia, Abno...	ORPHA:36913
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Autosomal Recessive Spastic Paraplegia Type 5A	Cataract	ORPHA:100986
Peroxisome Biogenesis Disorder 14B	Developmental cataract	OMIM:614920
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Tremor, Hematochezia	ORPHA:79095
Neonatal Marfan Syndrome	Iridodonesis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Megalocornea, Tricuspid reg...	ORPHA:284979
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract	OMIM:300578
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Histiocytoid cardiomyopathy, Sclerocornea, Arrhythmia, Cataract, Peters anomaly, ...	OMIM:309801
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Tangier Disease	Opacification of the corneal stroma, Myocardial infarction	OMIM:205400
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Congenital Ichthyosiform Erythroderma	Keratitis, Corneal erosion	ORPHA:79394
Carpenter Syndrome	Abnormal cornea morphology	ORPHA:65759
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae	OMIM:601499
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Microphthalmia, Sclerocornea	OMIM:614230
Even-Plus Syndrome	Cataract	OMIM:616854
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o...	ORPHA:2470
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia	ORPHA:35173
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy, Anophthalmia	ORPHA:411986
Marfan Syndrome	Aortic tortuosity, Arterial dissection, Aortic regurgitation, Lens luxation, Ascending tubular ao...	ORPHA:558
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Tremor, Exaggerated startle response	OMIM:620327
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Corneal opacity, Tricuspid regurgita...	OMIM:620519
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Developmental cataract, Intention tremor	OMIM:610532
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract	OMIM:616200
Retinitis Pigmentosa 14	Posterior subcapsular cataract	OMIM:600132
Peroxisome Biogenesis Disorder 8B	Cataract, Limb tremor	OMIM:614877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Coloboma, Corneal opacity, Megalocornea, Cataract, Buphth...	OMIM:236670
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Hypertensive crisis, Pos...	ORPHA:567
Anencephaly 2	Anophthalmia	OMIM:619452
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Aortic regurgitation, Myopic astigmatism, Aortic root aneurysm, Tricuspi...	ORPHA:230851
Renpenning Syndrome	Cataract, Iris coloboma	ORPHA:3242
Ermine Phenotype	Iris hypopigmentation, Astigmatism, Ocular albinism	ORPHA:999
Lowry-Maclean Syndrome	Developmental glaucoma, Corneal opacity, Megalocornea	ORPHA:2409
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Mucolipidosis Iii Gamma	Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation	OMIM:252605
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract	OMIM:268020
Meckel Syndrome	Abnormal chorioretinal morphology, Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Catar...	ORPHA:564
Cockayne Syndrome Type 3	Microphthalmia, Increased blood pressure, Premature coronary artery atherosclerosis, Corneal ulce...	ORPHA:90324
Nanophthalmos 4	Microphthalmia	OMIM:615972
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Anisocoria	OMIM:615510
Retinitis Pigmentosa 77	Posterior subcapsular cataract	OMIM:617304
Galactosemia I	Cataract	OMIM:230400
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microphthalmia	OMIM:274270
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Corneal dystrophy, Keratitis, Conjunctivitis	OMIM:308800
Chanarin-Dorfman Syndrome	Subcapsular cataract	OMIM:275630
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Short palpebral fissure, Astigmatism, Aortic root aneurysm, Retinal coloboma, Pulmonic stenosis, ...	OMIM:620654
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, Ocular albinism	ORPHA:2720
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal scarring, Corneal ulceration	OMIM:616488
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Presenile cataracts, Myocardial infarction	ORPHA:182050
Retinitis Pigmentosa 83	Posterior subcapsular cataract	OMIM:618173
Spinocerebellar Ataxia 32	Cognitive impairment, Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Serotonin Syndrome	Mydriasis, Tremor, Hypertension, Hypotension, Tachycardia	ORPHA:43116
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract	OMIM:615434
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo...	ORPHA:99050
Retinitis Pigmentosa 23	Posterior subcapsular cataract	OMIM:300424
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Spinocerebellar Ataxia Type 32	Cognitive impairment, Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Clouston Syndrome	Cataract, Conjunctivitis	OMIM:129500
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Patent ductus arteriosus, Retinal detachment, Telangiectasia of the s...	ORPHA:1556
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dystonia, Arrhythmia, Cataract, Dilated cardiomyopathy	ORPHA:254913
Branchio-Oculo-Facial Syndrome	Iris coloboma, Microcornea, Coloboma, Cataract, Nasolacrimal duct obstruction	ORPHA:1297
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Neuraminidase Deficiency	Cataract, Cardiomyopathy	OMIM:256550
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Opacification of the corneal stroma, Corneal opacity, Mitral regurgitation	OMIM:253010
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Optic nerve hypoplasia, Corneal opacity, Pulmonic stenosis, Abnormal left ventricula...	OMIM:301056
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cataract, Cardiomyopathy	ORPHA:363623
Alport Syndrome	Recurrent corneal erosions, Abnormal corneal endothelium morphology, Posterior subcapsular catara...	ORPHA:63
Noonan Syndrome 2	Anterior polar cataract	OMIM:605275
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Spastic Paraplegia 9A, Autosomal Dominant	Cataract, Resting tremor	OMIM:601162
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization, Subcapsular cataract	OMIM:133780
Fryns Syndrome	Microphthalmia, Abnormal aortic arch morphology, Corneal opacity, Abnormal aortic morphology, Tet...	ORPHA:2059
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Hypertension, Downslanted palpebral fissures, Ectopia lentis, Keratoconjunc...	OMIM:616914
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Ectopia lentis, Mitral regurgitation, Patent ductus arteriosus	OMIM:121050
Trichinellosis	Retinal hemorrhage, Anisocoria, Conjunctival hyperemia, Abnormal uvea morphology, Conjunctivitis	ORPHA:863
Retinitis Pigmentosa 66	Posterior subcapsular cataract	OMIM:615233
Wolfram Syndrome 1	Cataract, Tremor, Cardiomyopathy	OMIM:222300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Aortic regurgitation, Nuclear pulverulent cataract, Sutural cataract, Tremor, Cat...	OMIM:612474
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cataract, Peters...	OMIM:614643
Cockayne Syndrome Type 2	Anophthalmia, Cryptorchidism, Developmental cataract, Conjunctivitis, Male hypogonadism	ORPHA:90322
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Aniridia, Hypertension associated with pheochromocytoma, Sinus tachycar...	ORPHA:29072
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Cataract, Keratoconjunctivitis sicca, Telangiectasia	OMIM:601675
Triploidy	Cataract, Aplasia/Hypoplasia affecting the eye, Iris coloboma	ORPHA:3376
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Conjunctivitis	OMIM:226600
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Congestive heart failure, Microphthalmia, Corneal opacity, Cer...	ORPHA:464
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Corneal erosion, Punctate keratitis	ORPHA:92050
Fibromuscular Dysplasia, Arterial	Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu...	OMIM:135580
Proboscis Lateralis	Cyclopia, Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction, Optic nerve hypoplasia, Mi...	ORPHA:141099
1Q21.1 Microdeletion Syndrome	Microphthalmia, Interrupted aortic arch, Epicanthus, Patent ductus arteriosus, Cataract, Iris col...	ORPHA:250989
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract	OMIM:609033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Exaggerated startle response, Pulmonic stenosis, Cataract, Dilated cardiomyopathy	OMIM:253800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Cardiomyopathy	OMIM:620089
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Opacification of the corneal stroma, Brushfield spots	OMIM:214110
Distal Triplication 15Q	Corneal dystrophy, Telecanthus, Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:314588
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Buphthalmos, Developmental glaucoma, Tremor	ORPHA:99956
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
De Barsy Syndrome	Hypoplastic aortic arch, Prominent veins on trunk, Corneal opacity, Cataract, Abnormal fundus flu...	ORPHA:2962
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Retinitis Pigmentosa 10	Posterior subcapsular cataract	OMIM:180105
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Optic nerve aplasia, Sclerocornea...	OMIM:206900
Glycine Encephalopathy 1	Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior	OMIM:605899
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Monosomy 13Q14	Cataract, Microphthalmia, Iris coloboma	ORPHA:1587
Classic Galactosemia	Cataract, Dystonia, Action tremor, Postural tremor	ORPHA:79239
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Cardiofaciocutaneous Syndrome 4	Pulmonic stenosis, Optic nerve hypoplasia, Cataract	OMIM:615280
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Choreoathetosis	ORPHA:2715
Multiple Epiphyseal Dysplasia, Beighton Type	Cataract	ORPHA:166011
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Optic disc ...	ORPHA:959
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Papillorenal Syndrome	Microphthalmia, Lens luxation, Chorioretinal atrophy, Hypertension, Retinal coloboma, Optic disc ...	OMIM:120330
Neuroocular Syndrome	Microphthalmia, Nasolacrimal duct obstruction, Microcornea, Stellate iris, Remnants of the hyaloi...	OMIM:619539
Blau Syndrome	Iritis, Band keratopathy, Hypertension, Pericarditis, Nongranulomatous uveitis, Cataract, Uveitis	OMIM:186580
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract	OMIM:614376
X-Linked Intellectual Disability, Seemanova Type	Developmental cataract	ORPHA:85323
Alport Syndrome 1, X-Linked	Corneal erosion, Hypertension, Developmental cataract, Lenticonus, Anterior lenticonus	OMIM:301050
Charcot-Marie-Tooth Disease Type 4C	Head tremor, Anisocoria	ORPHA:99949
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Astigmatism	OMIM:609053
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract	OMIM:618195
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Usher Syndrome	Astigmatism, Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy, Vestibular a...	ORPHA:886
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Chorioretinal scar, Posterior uvei...	ORPHA:91500
Koolen-De Vries Syndrome	Aortic root aneurysm, Pulmonic stenosis, Ptosis, Iris hypopigmentation, Epicanthus, Patent ductus...	OMIM:610443
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Congestive heart failure, Cardiomyopathy	ORPHA:52430
Borjeson-Forssman-Lehmann Syndrome	Cataract	ORPHA:127
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Telecanthus, Vascular ring, Epicanthus, Patent ductus arteriosus, Overriding aort...	OMIM:601927
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Pulmonary arterial hypertension, Portal hypertension...	ORPHA:974
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Truncal titubation	ORPHA:88628
Cronkhite-Canada Syndrome	Cataract	ORPHA:2930
Harrod Syndrome	Cataract	ORPHA:2115
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Retinitis Pigmentosa 43	Posterior subcapsular cataract	OMIM:613810
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Marinesco-Sjögren Syndrome	Cataract	ORPHA:559
Acute Radiation Syndrome	Cataract, Hypotension, Telangiectasia	ORPHA:454831
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2839
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Congenital-Onset Steinert Myotonic Dystrophy	Cataract, First degree atrioventricular block, Bundle branch block	ORPHA:589821
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cataract, Pterygium	OMIM:224410
Martsolf Syndrome 1	Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy, Developmental cataract,...	OMIM:212720
Fabry Disease	Congestive heart failure, Cornea verticillata, Angina pectoris, Corneal dystrophy, Hypertension, ...	ORPHA:324
Retinoblastoma	Vitreous hemorrhage, Leukocoria	OMIM:180200
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Stroke, Corneal dystrophy, Heterochromia iridis, Conjunctival ...	ORPHA:3205
Codas Syndrome	Cataract	ORPHA:1458
Atelis Syndrome 2	Short palpebral fissure, Microphthalmia, Supravalvar pulmonary stenosis, Remnants of the hyaloid ...	OMIM:620185
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Highly arched eyebrow, Pulmonary arterial hypertension, Tetralogy of Fallot, Opti...	OMIM:300887
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Heterochromia iridis, Hyphema, Leukocoria, Vi...	ORPHA:790
Pai Syndrome	Iris coloboma	ORPHA:1993
Lymphedema-Distichiasis Syndrome	Cataract, Arrhythmia, Corneal erosion, Conjunctivitis	ORPHA:33001
Congenital Heart Defects, Multiple Types, 4	Left ventricular outflow tract obstruction, Coarctation of aorta, Tetralogy of Fallot, Aortic val...	OMIM:615779
Pseudohypoparathyroidism Type 1B	Cataract, Laryngeal dystonia, Prolonged QT interval, Conjunctivitis	ORPHA:94089
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Vici Syndrome	Cataract, Cardiomyopathy	ORPHA:1493
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Hypertension, Corneal opacity, Cerebral ischemia, Pulm...	ORPHA:1830
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Oculoectodermal Syndrome	Astigmatism, Microcornea, Chorioretinal atrophy, Transient ischemic attack, Hypertrophic cardiomy...	OMIM:600268
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract	OMIM:618797
Gm1 Gangliosidosis	Congestive heart failure, Tremor, Corneal opacity, Cardiomyopathy, Dystonia, Generalized dystonia	ORPHA:354
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Dystonia, Athetosis	ORPHA:357058
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Orthostatic hypotension	OMIM:146500
Tangier Disease	Corneal opacity	ORPHA:31150
Cutis Laxa, Autosomal Recessive, Type Iiia	Corneal arcus, Athetosis, Cataract	OMIM:219150
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypertension, Keratitis, Opacification of...	OMIM:308205
Mucopolysaccharidosis Type 1	Congestive heart failure, Corneal opacity, Hypertrophic cardiomyopathy	ORPHA:579
Microphthalmia, Syndromic 2	Microphthalmia, Hypoplastic aortic arch, Anophthalmia, Retinal detachment, Microcornea, Remnants ...	OMIM:300166
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Telangiectasia of the skin, Telangiectasia of the oral mucos...	ORPHA:79280
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Macular coloboma	OMIM:619260
Aortic Valve Disease 3	Aortic valve stenosis, Ascending aortic dissection, Aortic root aneurysm	OMIM:618496
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Highly arched eyebrow, Anisocoria, Epicanthus, Heart murmur, Narrow palpebral fi...	OMIM:618653
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Supraventricular tachycardia, Anisocoria, Developmental c...	OMIM:181270
Aortic Aneurysm, Familial Thoracic 12	Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic di...	OMIM:619825
Retinitis Pigmentosa 72	Posterior subcapsular cataract	OMIM:616469
Agel Amyloidosis	Corneal ulceration, Cardiomyopathy, Lattice corneal dystrophy, Orthostatic hypotension due to aut...	ORPHA:85448
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cataract	ORPHA:544503
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Long palpebral fissure, Ptosis, Vascular ring, Mitral regurgitation	OMIM:603387
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi	OMIM:259770
Pseudohypoparathyroidism, Type Ic	Cataract	OMIM:612462
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hematochezia	OMIM:175500
Transketolase Deficiency	Cataract, Uveitis, Conjunctivitis	ORPHA:488618
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Telangiectasia of the skin	ORPHA:85321
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Cardiomyopathy, Opacification of the corneal stroma, Mitra...	OMIM:607014
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Jaberi-Elahi Syndrome	Cataract, Tremor, Dystonia, Choreoathetosis	OMIM:617988
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Resting tremor, Head tremor	ORPHA:314404
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Cataract, Dilated cardiomyopathy	ORPHA:70595
Albinism-Deafness Syndrome	Heterochromia iridis	ORPHA:998
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Cardiomyopathy, Hyperopic astigmatism, Severely reduced left ventricular ej...	OMIM:252600
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Highly arched eyebrow, Cardiomyopathy, Aortic arch aneurysm, Synophrys, Thi...	OMIM:135500
Dysbetalipoproteinemia	Corneal arcus, Xanthelasma, Type IV atherosclerotic lesion, Premature coronary artery atheroscler...	ORPHA:412
Farber Disease	Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology	ORPHA:333
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Coarctation of aorta, Mitral stenosis, Pr...	OMIM:616564
Short Stature-Micrognathia Syndrome	Cataract, Astigmatism	OMIM:617164
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Telangiectasia of the skin, Cataract, My...	ORPHA:679
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Pulmonic stenosis, Ectopia pupillae	OMIM:618223
Cach Syndrome	Cataract	ORPHA:135
19Q13.11 Microdeletion Syndrome	Cataract, Microcornea	ORPHA:217346
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia	OMIM:302960
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ...	OMIM:618780
Autosomal Dominant Optic Atrophy, Classic Form	Cataract	ORPHA:98673
Pseudohypoparathyroidism, Type Ia	Cataract	OMIM:103580
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm...	OMIM:613854
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Telecanthus, Tricuspid regurgitation, Synophrys, Downslanted palpebral fissures, Coarctation of a...	OMIM:618929
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
3-Methylglutaconic Aciduria Type 7	Cataract, Choreoathetosis, Cardiomyopathy, Opisthotonus	ORPHA:445038
Trisomy 1Q	Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia	ORPHA:261344
Cat Eye Syndrome	Microphthalmia, Total anomalous pulmonary venous return, Pulmonic stenosis, Downslanted palpebral...	OMIM:115470
Retinitis Pigmentosa 60	Posterior subcapsular cataract	OMIM:613983
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Pulmonary artery atresia	OMIM:606217
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Astigmatism, Ptosis, Coarctation of aorta, Tetralogy of Fallot, Epicanth...	OMIM:617159
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Pterygium, Hypertension, Coarctation of aorta, Papilledema, At...	ORPHA:371428
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Moebius Syndrome	Corneal opacity	ORPHA:570
Tyrosinemia, Type Ii	Herpetiform corneal ulceration	OMIM:276600
Werner Syndrome	Cataract	OMIM:277700
Genitopalatocardiac Syndrome	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries	OMIM:231060
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Downslanted palpebral fissures, Arteriovenous malformation, Abnormal aortic arc...	ORPHA:1110
Superficial Siderosis	Subarachnoid hemorrhage, Internal hemorrhage, Anisocoria	ORPHA:247245
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus	OMIM:615297
Gaucher Disease, Type Iiic	Opacification of the corneal stroma, Mitral stenosis	OMIM:231005
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Aorta Coarctation	Congestive heart failure, Hypoplastic aortic arch, Coronary artery atherosclerosis, Coarctation o...	ORPHA:1457
Mosaic Variegated Aneuploidy Syndrome	Cataract, Microphthalmia, Corneal opacity, Aortic regurgitation	ORPHA:1052
Baraitser-Winter Syndrome 2	Microphthalmia, Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Ptosis	OMIM:614583
Hurler Syndrome	Angina pectoris, Corneal opacity, Hypertension, Cardiomyopathy	ORPHA:93473
Mednik Syndrome	Cataract	OMIM:609313
Albinism, Oculocutaneous, Type Ia	Astigmatism, Blue irides, Hypoplasia of the fovea, Ocular albinism	OMIM:203100
Bosma Arhinia Microphthalmia Syndrome	Cataract, Coloboma, Microphthalmia	OMIM:603457
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Blue irides, Self-muti...	OMIM:615516
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Facial Clefting, Oblique, 1	Coloboma, Microphthalmia	OMIM:600251
Mycophenolate Mofetil Embryopathy	Microphthalmia, Coarctation of aorta, Chorioretinal coloboma, Eyelid coloboma, Iris coloboma	ORPHA:268249
Jacobsen Syndrome	Microphthalmia, Nasolacrimal duct obstruction, Microcornea, Chorioretinal coloboma, Macular hypop...	OMIM:147791
Cowden Syndrome 5	Cataract, Intention tremor	OMIM:615108
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Sponastrime Dysplasia	Cataract, Congenital aphakia, Microcoria	ORPHA:93357
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Highly arched eyebrow, Coloboma, Hypertension, Ptosis, Downslanted...	OMIM:614424
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Retinal coloboma, Cataract, Iris coloboma	OMIM:607323
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract	ORPHA:261584
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract	ORPHA:543470
Cerebrotendinous Xanthomatosis	Cataract, Angina pectoris, Myocardial infarction	OMIM:213700
Oculodentodigital Dysplasia	Microphthalmia, Microcornea, Arrhythmia, Cataract, Uveitis	OMIM:164200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Keratoconjunctivitis...	OMIM:148210
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Developmental glaucoma, Athetosis	OMIM:614438
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Optic nerve hypoplasia, Highly arched eyebrow, Rig...	OMIM:617506
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Mucopolysaccharidosis, Type Vii	Corneal opacity, Cardiomyopathy	OMIM:253220
Rabin-Pappas Syndrome	Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,...	ORPHA:404443
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Keratoconjunctivitis	OMIM:269200
Neu-Laxova Syndrome 2	Cataract	OMIM:616038
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Sparse eyelashes, Ptosis, Sparse eyebrow, Tetralogy of Fallot, Epicanthus, Eyelid...	ORPHA:306542
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Chorioretinal coloboma, Optic disc...	OMIM:234100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Tachycardia, Dystonia, Cataract, Dilated cardiomyopathy	OMIM:618321
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Mydriasis, Bidirectional shunt, Patent ductus arteriosus, Tho...	OMIM:619351
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Trisomy 18	Cyclopia, Microphthalmia, Microcornea, Cataract, Iris coloboma	ORPHA:3380
Lathosterolosis	Cataract, Opacification of the corneal stroma, Microcornea	ORPHA:46059
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Sinus tachycardia, Corneal opacity, Cardiomyopathy, Pulmonary arterial h...	OMIM:253200
Ciliary Dyskinesia, Primary, 40	Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte...	OMIM:618300
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Highly arched eyebrow, Downslanted pal...	ORPHA:261311
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Hyperactivity, Frequent temper tantrums, Impulsivity, Developmental cataract,...	OMIM:620141
Incontinentia Pigmenti	Microphthalmia, Retinal hemorrhage, Keratitis, Hypoplasia of the fovea, Cataract, Uveitis	OMIM:308300
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:613780
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Iris coloboma	OMIM:109400
Mowat-Wilson Syndrome	Microphthalmia, Broad eyebrow, Microcornea, Pulmonic stenosis, Pulmonary artery stenosis, Downsla...	OMIM:235730
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Corneal scarring, ...	ORPHA:90354
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Microcornea, Pulmonary arterial hypertension, Ptosis, Downslanted palpebral fissu...	ORPHA:464738
Monosomy 9Q22.3	Cataract, Microphthalmia	ORPHA:77301
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Cowden Syndrome 6	Cataract, Intention tremor	OMIM:615109
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Tremor, Hypertrophic cardiomyopathy, Intention tremor, Arrhythmia, Cataract	OMIM:614052
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact...	OMIM:619827
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Alg8-Cdg	Cataract	ORPHA:79325
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Developmental cataract, Cerebral hemorrhage, Pos...	OMIM:171300
Corneodermatoosseous Syndrome	Corneal dystrophy	ORPHA:3194
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Cataract, Buphthalmos, Chorioretinal dysplasia, Abnormal pupil m...	ORPHA:534
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta, Hypertension, Long eyelashes	OMIM:616069
Kniest Dysplasia	Cataract	OMIM:156550
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Classical-Like Ehlers-Danlos Syndrome Type 2	Bilateral ptosis, Astigmatism, Aortic root aneurysm, Prominent veins on trunk, Carotid artery ste...	ORPHA:536532
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis	ORPHA:91416
Zimmermann-Laband Syndrome	Cataract	ORPHA:3473
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Ptosis, Downslanted palpebral fissu...	ORPHA:1727
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho...	OMIM:610168
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Microcornea, Zonular cataract, Cataract, Telangiectasia	OMIM:268400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Coloboma, Megalocornea, Hypoplasia of the retina, Cataract, Opacific...	OMIM:253280
Behcet Syndrome	Iritis, Hypopyon, Chorioretinitis, Raynaud phenomenon, Iridocyclitis	OMIM:109650
Cocaine Intoxication	Ischemic stroke, Mydriasis, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hyp...	ORPHA:90068
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Astigmatism, Cardiomyopathy, Iris hypopigmentation, Epistaxis, Catar...	ORPHA:79430
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Coarctation of aorta, Epicanthus, Cataract	ORPHA:2780
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left...	ORPHA:2326
Axial Spondylometaphyseal Dysplasia	Cataract	ORPHA:168549
Cap Myopathy	Aortic root aneurysm, Sinus tachycardia, Reduced systolic function	ORPHA:171881
Alternating Hemiplegia Of Childhood	Mydriasis, Tremor, Cardiomyopathy, Cardiac conduction abnormality, Dystonia, Arrhythmia, Choreoat...	ORPHA:2131
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cataract	OMIM:220500
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus	ORPHA:1455
Pituitary Apoplexy	Mydriasis, Hypertension, Hypotension	ORPHA:95613
Skraban-Deardorff Syndrome	Sparse lateral eyebrow, Right aortic arch	OMIM:617616
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Ocular anterior segment dysgenesis	ORPHA:369891
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Developmental cataract, Corneal scarring	OMIM:309000
Mend Syndrome	Aortic valve stenosis, Microphthalmia, Cataract	ORPHA:401973
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Presenile cataracts	OMIM:112250
Cockayne Syndrome Type 1	Anophthalmia, Cryptorchidism, Conjunctivitis, Cataract, Male hypogonadism	ORPHA:90321
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Joubert Syndrome 22	Coloboma, Microphthalmia, Retinal dysplasia	OMIM:615665
Hyperlysinemia, Type I	Hyperactivity, Optic nerve hypoplasia, Short attention span, Cognitive impairment, Ectopia lentis	OMIM:238700
Wolf-Hirschhorn Syndrome	Rieger anomaly, Ectopia pupillae, Iris coloboma	OMIM:194190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Resting tremor, Hand tremor	OMIM:157640
Stickler Syndrome, Type I	Cataract	OMIM:108300
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Patent ductus art...	ORPHA:3092
Fanconi Anemia	Microphthalmia, Astigmatism, Hypertrophic cardiomyopathy, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:84
Stevenson-Carey Syndrome	Downslanted palpebral fissures, Left superior vena cava draining to coronary sinus, Microphthalmi...	OMIM:611961
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Arterial rupture	OMIM:612394
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol...	ORPHA:8
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Obsessive-compulsive trait, Astigmatism, Hypospadias, Hyperactivity, Optic nerve hypoplasia, Low ...	ORPHA:363686
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Alpha-Mannosidosis, Infantile Form	Astigmatism, Aortic regurgitation, Corneal opacity, Cataract, Mitral regurgitation	ORPHA:309282
Mosaic Trisomy 1	Congenital bilateral ptosis, Microphthalmia, Pulmonary artery atresia, Downslanted palpebral fiss...	ORPHA:1692
Tbck-Related Intellectual Disability Syndrome	Pulmonic stenosis, Corneal opacity	ORPHA:488632
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivity disorder...	OMIM:617914
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Aortic valve stenosis, Paten...	ORPHA:2306
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm	OMIM:616166
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Corneal opacity, Tricuspid regurgitation, Hypertrophic cardiomyopat...	ORPHA:2556
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Dystonia, Arrhythmia, Cataract, Choreoathetosis	OMIM:615471
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion	ORPHA:920
Congenital Disorder Of Deglycosylation 1	Action tremor, Athetosis, Corneal opacity, Corneal ulceration	OMIM:615273
Schimke Immunoosseous Dysplasia	Astigmatism, Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyper...	OMIM:242900
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Dystonia, Cataract	ORPHA:137605
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Microphthalmia, Iris coloboma	ORPHA:3186
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Anophthalmia, Microcornea, Chorioretinal coloboma, Optic d...	OMIM:309800
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Cohen Syndrome	Chorioretinal dystrophy, Microphthalmia, Iris coloboma	ORPHA:193
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Knobloch Syndrome	Cataract, Ectopia lentis	ORPHA:1571
Chime Syndrome	Corneal opacity, Retinal coloboma	ORPHA:3474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Aortic root aneurysm, Highly arched eyebrow, Pulmonary arterial hyperte...	ORPHA:444077
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Trisomy 17P	Aortic valve stenosis, Cataract	ORPHA:261290
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Vascular dilatation, Aortic aneurysm, Retinal detachment, Microcornea, ...	ORPHA:1900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Astigmatism, Corneal opacity, Aortic regurgitation	ORPHA:464311
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Keratoconjunctivitis, Iridocyclitis	OMIM:240300
Oculodentodigital Dysplasia	Abnormality iris morphology, Microcornea, Cataract, Arrhythmia	ORPHA:2710
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Holoprosencephaly	Optic atrophy, Cyclopia, Microphthalmia, Anophthalmia, Highly arched eyebrow, Abnormal aortic mor...	ORPHA:2162
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Tremor, Dystonia, Athetosis	OMIM:615356
Congenital Toxoplasmosis	Microphthalmia, Cognitive impairment	ORPHA:858
Cerebellofaciodental Syndrome	Cataract	OMIM:616202
Graves Disease	Irritability, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperac...	OMIM:275000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Tetrasomy 15Q26	Downslanted palpebral fissures, Hypoplastic aortic arch, Patent ductus arteriosus	OMIM:614846
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract	ORPHA:90153
Cenani-Lenz Syndrome	Cataract	ORPHA:3258
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Developmental glaucoma, Abnormally large globe, Aortic root aneurysm, Downslanted palpebral fissu...	OMIM:245600
Classical Ehlers-Danlos Syndrome	Blepharochalasis, Orthostatic hypotension, Aortic root aneurysm, Arteriovenous fistula, Dermatoch...	ORPHA:287
2Q31.1 Microdeletion Syndrome	Coloboma, Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:251014
Saul-Wilson Syndrome	Cataract	OMIM:618150
Hereditary Fructose Intolerance	Cataract	ORPHA:469
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus	OMIM:601186
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Allergic conjunctivitis, Cataract	OMIM:176690
Joubert Syndrome 37	Decreased testicular size, Microphthalmia, Cryptorchidism, Micropenis	OMIM:619185
Hypoplastic Left Heart Syndrome	Mitral stenosis, Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:2248
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Absent eyelashes...	ORPHA:363618
Kaufman Oculocerebrofacial Syndrome	Astigmatism, Telecanthus, Microcornea, Ptosis, Coarctation of aorta, Sparse eyebrow, Epicanthus, ...	OMIM:244450
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Corneal scarring	OMIM:301220
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia, Developmental cataract, Uveitis	ORPHA:2108
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Downslanted palpebral fissures, Epicanthus, Double outlet right ventricle, ...	OMIM:616652
Partial Atrioventricular Septal Defect	Atrial flutter, Patent ductus arteriosus, Angina pectoris, Transient ischemic attack, Atrial arrh...	ORPHA:1330
Juvenile Xanthogranuloma	Hyphema, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Teebi Hypertelorism Syndrome 1	Bilateral ptosis, Aortic root aneurysm, Highly arched eyebrow, Downslanted palpebral fissures, Up...	OMIM:145420
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Microphthalmia, Aortic regurgitation, Optic nerve hypoplasia, Coloboma, ...	ORPHA:508498
Scorpion Envenomation	Myocarditis, Mydriasis, Congestive heart failure, Prominent U wave, Hypertension, Tremor, Prematu...	ORPHA:466677
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Mitral regurgitation	OMIM:301039
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Megalocornea	OMIM:601353
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a...	OMIM:615436
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:613884
Arachnoid Cyst	Mydriasis, Subarachnoid hemorrhage	ORPHA:2356
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Aortic root aneurysm, Ptosis, Thin eyebrow, Carotid artery stenosis, Prominent ...	OMIM:618000
Kindler Epidermolysis Bullosa	Corneal opacity, Conjunctivitis	ORPHA:2908
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Pulmonic s...	ORPHA:536471
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Anterior lenticonus, Keratitis	ORPHA:1018
Myoclonic-Astatic Epilepsy	Hyperactivity, Attention deficit hyperactivity disorder, Microphthalmia, Abnormal emotion	ORPHA:1942
Mucopolysaccharidosis Type 3	Reduced left ventricular ejection fraction, Corneal opacity, Atrioventricular block, Cataract, Op...	ORPHA:581
Larsen Syndrome	Corneal opacity	OMIM:150250
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Macroorchidism, Impulsivity	OMIM:300143
Craniotubular Dysplasia, Ikegawa Type	Mydriasis, Phthisis bulbi	OMIM:619727
Progeria-Short Stature-Pigmented Nevi Syndrome	Cataract, Band keratopathy, Supraventricular arrhythmia	ORPHA:2959
Treacher-Collins Syndrome	Cataract, Microphthalmia, Blepharospasm, Iris coloboma	ORPHA:861
Marshall Syndrome	Cataract, Ectopia lentis	ORPHA:560
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Abnormal aortic morphology, Tetralogy of Fallot	ORPHA:1166
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Transposition of the great arteries, Aortic root aneurysm	OMIM:619910
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr...	ORPHA:85327
Alkuraya-Kucinskas Syndrome	Cataract	OMIM:617822
Cowden Syndrome 1	Cataract, Intention tremor	OMIM:158350
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Astigmatism, Corneal opacity, Aortic regurgitation	ORPHA:464306
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho...	OMIM:609192
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Hypertension, Cerebral ischemia, Ectopia lentis, Intracranial hemorr...	ORPHA:394
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Congestive heart failure, Noncompaction cardiomyopathy, Tricuspid regurgitation	ORPHA:508542
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ...	ORPHA:264200
Intellectual Developmental Disorder, Autosomal Dominant 21	Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus	OMIM:615502
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Stroke, Microcornea, Peripapillary atroph...	ORPHA:536467
Neurofibromatosis Type 1	Hypertension, Corneal opacity, Heterochromia iridis, Chorioretinal coloboma, Cataract, Lisch nodules	ORPHA:636
Truncus Arteriosus	Anomalous origin of the left common carotid artery from the brachiocephalic artery, Abnormal supe...	ORPHA:3384
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Autosomal Dominant Cutis Laxa	Congestive heart failure, Aortic regurgitation, Corneal opacity, Developmental cataract, Mitral r...	ORPHA:90348
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Keratitis, Telangiectasia of the skin, Cataract, Opacific...	ORPHA:910
Carpenter Syndrome 1	Pulmonic stenosis, Opacification of the corneal stroma, Microcornea	OMIM:201000
3-Methylglutaconic Aciduria, Type Viii	Cataract, Tremor, Dystonia, Bradycardia	OMIM:617248
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Corneal opacity, Retinop...	ORPHA:217085
Osteopetrosis, Autosomal Recessive 5	Mydriasis	OMIM:259720
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Opacification of the corneal stroma, Brushfield spots	OMIM:214100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Moebius Syndrome	Microphthalmia, Decreased testicular size, Dysphagia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Blepharophimosis	ORPHA:2516
Fliedner-Zweier Syndrome	Epicanthus, Hypoplastic aortic arch	OMIM:620511
Tricuspid Atresia	Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu...	ORPHA:1209
Aicardi Syndrome	Cataract, Microphthalmia, Chorioretinal lacunae, Optic disc coloboma	OMIM:304050
Transaldolase Deficiency	Coarctation of aorta, Telangiectasia	ORPHA:101028
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Alagille Syndrome 1	Abnormal anterior chamber morphology, Band keratopathy, Stroke, Microcornea, Renal artery stenosi...	OMIM:118450
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Microphthalmia, Cataract, Portal hypertension	OMIM:620005
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Corneal opacity, Retinop...	ORPHA:217093
17Q12 Microduplication Syndrome	Self-injurious behavior, Microphthalmia	ORPHA:261272
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Athetosis, Tricuspid regurgitation, Heart murmur, Brushfield spots, Catarac...	OMIM:614866
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Right aortic arch, Pulmonary artery atresia, Total anomalous...	OMIM:613751
Cockayne Syndrome	Optic atrophy, Microphthalmia, Retinal dystrophy, Corneal ulceration, Band keratopathy, Hypertens...	ORPHA:191
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism, Compulsive behaviors	ORPHA:404440
X Small Rings	Congenital stationary night blindness, Aortic root aneurysm, Long palpebral fissure, Mitral steno...	ORPHA:96201
Ciliary Dyskinesia, Primary, 37	Right aortic arch	OMIM:617577
Lathosterolosis	Cataract	OMIM:607330
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Persistent left superior vena cava, Coarctation of aorta, Microphthalmia, Epicanthus	OMIM:618494
Mucopolysaccharidosis Type 2	Optic atrophy, Hypertension, Abnormal aortic morphology, Cardiomyopathy, Corneal opacity, Retinop...	ORPHA:580
Scalp-Ear-Nipple Syndrome	Cataract, Hypertension	ORPHA:2036
Marshall Syndrome	Cataract, Lens luxation	OMIM:154780
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart murmur, Tetralogy ...	OMIM:617478
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Werner Syndrome	Congestive heart failure, Hypertension, Telangiectasia of the skin, Cataract, Myocardial infarction	ORPHA:902
Charge Syndrome	Delayed puberty, Microphthalmia, Abnormality of the adrenal glands, Anterior hypopituitarism, Ano...	ORPHA:138
Gorlin Syndrome	Cataract, Iris coloboma	ORPHA:377
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Optic nerve hypoplasia, Optic disc hypoplasia	ORPHA:79345
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Astigmatism	OMIM:300968
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Myhre Syndrome	Microphthalmia, Hypertension, Aortic valve stenosis, Coarctation of aorta, Thick eyebrow, Patent ...	OMIM:139210
Williams Syndrome	Congestive heart failure, Hypertension, Corneal opacity, Megalocornea, Hypertrophic cardiomyopath...	ORPHA:904
Monosomy 18Q	Congestive heart failure, Aortic aneurysm, Abnormal retinal morphology, Left-to-right shunt, Aort...	ORPHA:1600
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia, Iris coloboma	OMIM:605627
Aortic Valve Disease 2	Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st...	OMIM:614823
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Microcornea, Tricuspid regurgitation, Aortic rupture, Epicanthus, Patent ductus arteriosus, Mitra...	OMIM:614557
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short...	ORPHA:449291
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Microphthalmia	OMIM:616920
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Hypertension	OMIM:617913
Boudin-Mortier Syndrome	Aortic root aneurysm	OMIM:619543
3P25.3 Microdeletion Syndrome	Microphthalmia, Coronary artery atherosclerosis, Pulmonic stenosis, Downslanted palpebral fissure...	ORPHA:435638
8P23.1 Microdeletion Syndrome	Transposition of the great arteries, Abnormal aortic morphology, Hypertrophic cardiomyopathy, Pul...	ORPHA:251071
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Highly arched eyebrow, Iris atrophy, Hyphema, Aortic valve stenosis, Pulmonic ste...	ORPHA:261552
16P13.11 Microduplication Syndrome	Coarctation of aorta, Transposition of the great arteries, Tetralogy of Fallot	ORPHA:261243
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Dilated cardiomyopathy	OMIM:616541
Spondyloocular Syndrome	Cataract, Posterior subcapsular cataract	OMIM:605822
Congenital Syphilis	Myocarditis, Chorioretinitis, Keratitis, Cataract, Uveitis	ORPHA:499009
Trichothiodystrophy	Bilateral microphthalmos, Astigmatism, Microcornea, Cardiomyopathy, Intention tremor, Development...	ORPHA:33364
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Hyperactivity, Impotence, Cognitive impairment, Disinhibition,...	ORPHA:43
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions, Lacrimal gland hypoplasia	OMIM:103420
Hartsfield Syndrome	Ptosis, Downslanted palpebral fissures, Microphthalmia, Telecanthus	ORPHA:2117
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
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Coarctation of aorta, Medial flaring of the eyebrow, Upslanted palpebral fi...	OMIM:617602
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Microphthalmia, Epicanthus	OMIM:602501
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ...	ORPHA:3426
Chops Syndrome	Cataract	OMIM:616368
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Dilatation o...	ORPHA:363705
Peters Plus Syndrome	Microcornea, Corneal opacity, Pulmonic stenosis, Cataract, Peters anomaly, Anterior chamber synec...	ORPHA:709
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity	OMIM:274000
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Corneal opacity, Bicor...	OMIM:219000
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Keratoconus, Ascending tubular aorta aneurysm, Arteri...	ORPHA:285
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Long palpebral fissure, Ptosis, Ascending aortic dissection, Downslanted pa...	OMIM:615582
Diabetic Embryopathy	Transposition of the great arteries, Abnormal aortic morphology, Aplasia/Hypoplasia affecting the...	ORPHA:1926
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Microphthalmia, Broad eyebrow, Coloboma, Downslanted palpebral fissures, Epicanthu...	OMIM:616975
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Optic nerve hypoplasia, Aortopulmonary window, Pulmonary arterial hypertens...	OMIM:620025
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ectropion, Microphthalmia, Corneal ulceration, Pterygium...	OMIM:263650
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin	ORPHA:2907
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Aortic root aneurysm, Noncompaction cardiomyopathy, Synophrys, Horizontal eyebrow,...	OMIM:607872
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Transp...	ORPHA:1686
Jacobsen Syndrome	Ectropion, Microcornea, Aortic valve stenosis, Ptosis, Coarctation of aorta, Downslanted palpebra...	ORPHA:2308
Charge Syndrome	Microphthalmia, Anophthalmia, Right aortic arch, Coloboma, Pulmonary artery atresia, Unilateral m...	OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Microphallus, Motor stereotypy, Small scrotum, Cryptorc...	OMIM:300486
Codas Syndrome	Cataract, Developmental cataract	OMIM:600373
Relapsing Polychondritis	Myocarditis, Large vessel vasculitis, Pericarditis, Keratitis, Conjunctivitis, Cataract, Uveitis	ORPHA:728
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ...	ORPHA:163681
Miller-Dieker Lissencephaly Syndrome	Cataract	OMIM:247200
Renpenning Syndrome 1	Cataract, Coloboma, Microphthalmia	OMIM:309500
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri...	ORPHA:392
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring, Tremor, Limb dystonia, Dystonia, Hand tremor	OMIM:277900
Witteveen-Kolk Syndrome	Microphthalmia, Anisocoria, Intracranial hemorrhage, Cataract, Iris coloboma	OMIM:613406
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension	ORPHA:2072
Scimitar Syndrome	Congestive heart failure, Left superior vena cava draining to coronary sinus, Heart block, Partia...	ORPHA:185
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Cardiac conduction abno...	ORPHA:353281
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Ectopia lentis, Chorioretinal coloboma, Telangiectasia, I...	OMIM:305600
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Bardet-Biedl Syndrome 1	Cataract, Hypertension, Astigmatism	OMIM:209900
Vici Syndrome	Congestive heart failure, Cardiomyopathy, Developmental cataract, Cataract, Dilated cardiomyopath...	OMIM:242840
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Supernumerary nip...	OMIM:620098
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Cerebellar-Facial-Dental Syndrome	Cataract, Abnormal T-wave	ORPHA:444072
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Adrenal hypoplasia, Female h...	OMIM:607932
Blomstrand Lethal Chondrodysplasia	Cataract, Coarctation of aorta, Telecanthus	ORPHA:50945
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Iris coloboma	OMIM:610828
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Coloboma, Hypovolemia	ORPHA:47159
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:617349
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Total anom...	OMIM:614779
Wolf-Hirschhorn Syndrome	Sclerocornea, Megalocornea, Iris coloboma	ORPHA:280
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Arrhythmia	ORPHA:3191
Giant Cell Arteritis	Optic atrophy, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ven...	ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Aortic root...	OMIM:614437
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Decreased circulating para...	OMIM:241410
Distal Deletion 15Q	Abnormal aortic arch morphology, Coarctation of aorta, Mitral stenosis, Double outlet right ventr...	ORPHA:1596
Au-Kline Syndrome	Aortic root aneurysm, Hypertension, Shallow orbits, Sparse lateral eyebrow, Ptosis, Downslanted p...	OMIM:616580
Holoprosencephaly 2	Cyclopia, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris c...	OMIM:157170
Heterotaxy, Visceral, 12, Autosomal	Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy...	OMIM:619702
Monosomy 18P	Ptosis, Microphthalmia, Hypertension, Epicanthus	ORPHA:1598
Neu-Laxova Syndrome	Cataract, Opisthotonus, Pterygium	ORPHA:2671
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Hypovolemia	ORPHA:411634
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Microphthalmia, Ovarian neoplasm	OMIM:617883
Pseudohypoparathyroidism Type 1C	Cataract, Laryngeal dystonia, Prolonged QT interval, Conjunctivitis	ORPHA:79444
Immunodeficiency 23	Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Ciliary Dyskinesia, Primary, 53	Persistent left superior vena cava, Right aortic arch, Pulmonary arterial hypertension	OMIM:620642
X-Linked Intellectual Disability, Armfield Type	Cataract	ORPHA:85276
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Upslanted palpebral fissure, Abnormal aortic morphology, Patent ductus arteriosus	ORPHA:2001
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis, Uveitis	ORPHA:2273
Myhre Syndrome	Cataract, Hypertension	ORPHA:2588
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus	OMIM:601612
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Highly arched eyebrow, Coloboma, Aortic isthmus hypoplasia, Cataract, Long eyelash...	OMIM:180849
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Bilateral microphthalmos, Hypoplastic aortic arch, Highly arched eye...	ORPHA:508488
Gaucher Disease	Tremor, Corneal opacity, Pulmonary arterial hypertension	ORPHA:355
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Microphthalmia, Cryptorchidism	ORPHA:2728
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi...	OMIM:620294
Alzahrani-Kuwahara Syndrome	Cataract, Astigmatism	OMIM:619268
Kabuki Syndrome	Highly arched eyebrow, Microcornea, Coloboma, Long eyelashes, Sparse lateral eyebrow, Ptosis, Coa...	ORPHA:2322
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia	ORPHA:2538
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract	ORPHA:3042
Blau Syndrome	Large vessel vasculitis, Hypertension, Posterior uveitis, Pulmonary arterial hypertension, Perica...	ORPHA:90340
You-Hoover-Fong Syndrome	Coarctation of aorta, Vascular ring, Double aortic arch	OMIM:616954
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Downslanted palpebral fissures, Microphthalmia, Chorioretinal coloboma	OMIM:619135
Pseudotrisomy 13 Syndrome	Cyclopia, Coarctation of aorta, Microphthalmia, Upslanted palpebral fissure	OMIM:264480
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Trichiasis, Abnormal subclavian artery morphology, Highly arched eyebrow, Coloboma, Corneal scarr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Trichiasis, Abnormal subclavian artery morphology, Highly arched eyebrow, Coloboma, Corneal scarr...	ORPHA:353277
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Hypertension, Abnormal systemic arterial morphology, Dilatation of the cere...	ORPHA:730
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Hyperactivity, Bifid scrotum, Cryptorchid...	OMIM:619148
Dent Disease	Cataract	ORPHA:1652
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Aymé-Gripp Syndrome	Cataract, Pericarditis, Developmental cataract, Megalocornea	ORPHA:1272
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension, Downslanted palpebral fissures, Coarctation of aorta, Epicanthus	OMIM:617729
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Aortic regurgitation, Corneal ulceration, Angina pectoris,...	ORPHA:740
Cutis Laxa, Autosomal Recessive, Type Iid	Cataract, Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy	OMIM:617403
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre...	OMIM:217095
Otopalatodigital Syndrome Type 2	Cataract, Developmental glaucoma	ORPHA:90652
Smith-Lemli-Opitz Syndrome	Cataract, Aplasia/Hypoplasia affecting the eye, Sclerocornea, Iris coloboma	ORPHA:818
Ctcf-Related Neurodevelopmental Disorder	Highly arched eyebrow, Microcornea, Pulmonary arterial hypertension, Long eyelashes, Synophrys, C...	ORPHA:363611
Heterotaxy, Visceral, 7, Autosomal	Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery...	OMIM:616749
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Interrupted aortic arch, Downslanted palpebral fissures, Heart murmur, Intracra...	ORPHA:163979
Hemochromatosis, Type 1	Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ...	OMIM:235200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta	OMIM:620210
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Cockayne Syndrome A	Hypertension, Tremor, Arrhythmia, Cataract, Opacification of the corneal stroma	OMIM:216400
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Band keratopathy, Hypertension, Choreoathetosis, Conjunctivitis, Cataract,...	ORPHA:79443
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Hypertension, Cardiomyopathy, Pulmonary arterial hypert...	ORPHA:3472
Deafness, X-Linked 7	Ptosis, Thick eyebrow, Unilateral microphthalmos, Telecanthus	OMIM:301018
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Transposition of the great arteries, Blood pressure subst...	ORPHA:2299
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Partial anomalous pulmonary venous return, Right-to-left shunt, Hypoplas...	OMIM:265380
Frontonasal Dysplasia 3	Sparse eyelashes, Microphthalmia, Upper eyelid coloboma, Absent eyebrow	OMIM:613456
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries	ORPHA:293181
Septopreoptic Holoprosencephaly	Coarctation of aorta	ORPHA:280195
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Astigmatism, Retinal coloboma	ORPHA:500095
Osteogenesis Imperfecta	Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Corneal opacity, Arterial dissection...	ORPHA:666
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus	OMIM:614857
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short palpebral fissure, Telecanthus, Downslanted palpebral fissures, Coarctation of aorta, Mitra...	OMIM:617260
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypospadias	OMIM:248700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cataract	OMIM:300990
Digeorge Syndrome	Short palpebral fissure, Right aortic arch with mirror image branching, Interrupted aortic arch, ...	OMIM:188400
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Aortic regurgitation, Megalocornea, Hypertrophic cardiomyopathy, Heart ...	OMIM:252500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Highly arched eyebrow, Laterally extended eyebrow, Coarctation of aorta, Sparse eyebrow, Upslante...	OMIM:600987
Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Ptosis, Coarctation of aorta, Arrhythmia,...	ORPHA:648
Fryns Syndrome	Opacification of the corneal stroma, Microphthalmia	OMIM:229850
Transaldolase Deficiency	Coarctation of aorta, Patent ductus arteriosus, Synophrys, Telangiectasia	OMIM:606003
Loeys-Dietz Syndrome 3	Dilatation of the cerebral artery, Aortic regurgitation, Arterial tortuosity, Aortic aneurysm, At...	OMIM:613795
Spondylocarpotarsal Synostosis Syndrome	Cataract	OMIM:272460
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Coloboma, Corneal opacity, Cataract, Opacification of the corneal stroma	OMIM:268300
Behçet Disease	Gastrointestinal hemorrhage, Myocardial infarction, Aortic regurgitation, Vasculitis, Cerebral is...	ORPHA:117
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Aortic root aneurysm, Upslanted palpebral fissure, Pulmonary arterial hypertension, Synophrys, Bl...	ORPHA:280633
Opitz Gbbb Syndrome	Telecanthus, Aortic root aneurysm, Ptosis, Coarctation of aorta, Downslanted palpebral fissures, ...	ORPHA:2745
Cohen-Gibson Syndrome	Cataract	OMIM:617561
Plague	Hematemesis, Mydriasis, Hypotension, Conjunctival hyperemia, Arrhythmia, Tachycardia	ORPHA:707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Heterotaxy, Visceral, 1, X-Linked	Transposition of the great arteries, Hypoplastic aortic arch, Total anomalous pulmonary venous re...	OMIM:306955
Neu-Laxova Syndrome 1	Cataract, Microphthalmia, Pterygium	OMIM:256520
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissect...	OMIM:300989
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Methimazole Embryofetopathy	Coarctation of aorta, Abnormal aortic morphology	ORPHA:1923
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Townes-Brocks Syndrome	Microphthalmia, Chorioretinal coloboma, Cataract, Limbal dermoid, Iris coloboma	ORPHA:857
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma, Pulmonary arterial hypertension	OMIM:601559
Feingold Syndrome 1	Short palpebral fissure, Interrupted aortic arch, Tricuspid stenosis, Epicanthus, Patent ductus a...	OMIM:164280
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Highly arched eyebrow, Synophrys, Aortic valve stenosis, Coarctation of aor...	ORPHA:96147
Meacham Syndrome	Transposition of the great arteries, Partial anomalous pulmonary venous return, Cardiac total ano...	OMIM:608978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Pulmonary arterial hypertension, Iris coloboma	OMIM:620186
Cherubism	Marcus Gunn pupil	OMIM:118400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Coarctation of aorta, Anomalous pulmonary venous return, Tricuspid regurgitation, Patent ductus a...	ORPHA:1120
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Hypertrophic cardiomyopathy, Ptosis, Coarctation of aorta, Patent ductus...	ORPHA:17
Kabuki Syndrome 2	Highly arched eyebrow, Long eyelashes, Pulmonic stenosis, Sparse lateral eyebrow, Coarctation of ...	OMIM:300867
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cataract, Gastrointestinal hemorrhage	ORPHA:247598
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Joubert Syndrome 21	Dysphagia, Anophthalmia	OMIM:615636
Frontometaphyseal Dysplasia	Abnormal cornea morphology, Astigmatism	ORPHA:1826
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ...	OMIM:617205
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Upper eyelid entropion, Hypoplastic aortic arch	ORPHA:457284
Elsahy-Waters Syndrome	Cataract, Phthisis bulbi, Megalocornea	OMIM:211380
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Upslanted palpebral fissure, Sparse eyebrow, Abnormal aortic morphology	ORPHA:1001
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction, Retinal coloboma, Cataract, Iris col...	OMIM:113620
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Loeys-Dietz Syndrome 6	Arterial tortuosity, Vertebral artery aneurysm, Transient ischemic attack, Aortic tortuosity, Ver...	OMIM:619656
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
Viss Syndrome	Ectropion, Pulmonary artery aneurysm, Epidural hemorrhage, Iliac artery aneurysm, Abnormal branch...	OMIM:619472
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology	ORPHA:3405
Aneurysm Of Sinus Of Valsalva	Congestive heart failure, Aortic regurgitation, Stroke, Dilatation of the sinus of Valsalva, Hear...	ORPHA:1054
Craniofacioskeletal Syndrome	Short palpebral fissure, Interrupted aortic arch, Downslanted palpebral fissures, Patent ductus a...	OMIM:300712
Cowden Syndrome	Cataract, Mucosal telangiectasiae, Conjunctival hamartoma	ORPHA:201
Mosaic Variegated Aneuploidy Syndrome 2	Short palpebral fissure, Aortic regurgitation, Downslanted palpebral fissures, Coarctation of aor...	OMIM:614114
Meckel Syndrome, Type 1	Microphthalmia, Vascular dilatation, Ptosis, Coarctation of aorta, Epicanthus inversus, Patent du...	OMIM:249000
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Right aortic arch, Pulmonary arterial hypertension, Do...	ORPHA:95430
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Epistaxis, Hemato...	OMIM:175050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short palpebral fissure, Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Pulmonary ...	ORPHA:96334
Primrose Syndrome	Posterior polar cataract	OMIM:259050
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Tremor, Corneal opacity, Action tremor, Pulmonic stenosis, Cataract	ORPHA:3455
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Premature arteriosclerosis, Aortic atherosclerotic lesion, Premature ...	ORPHA:391665
1P36 Deletion Syndrome	Optic atrophy, Ocular albinism, Aortic arch aneurysm, Horizontal eyebrow, Abnormal eyebrow morpho...	ORPHA:1606
Momo Syndrome	Bilateral microphthalmos, Downslanted palpebral fissures, Chorioretinal coloboma, Eyelid coloboma...	ORPHA:2563
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Pulmonary arterial hypertension, Coarctation of aorta, Optic disc coloboma...	OMIM:618454
Feingold Syndrome Type 1	Interrupted aortic arch, Short palpebral fissure, Tricuspid stenosis, Patent ductus arteriosus	ORPHA:391641
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Diamond-Blackfan Anemia	Developmental glaucoma, Ptosis, Coarctation of aorta, Developmental cataract, Epicanthus, Radial ...	ORPHA:124
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe...	ORPHA:465508
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic arch aneurysm, Aortic valve stenosis, Coarctation of a...	ORPHA:402075
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cataract, Hypertrophic cardiomyopathy	OMIM:124000
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Microphallus	OMIM:603467
Kleefstra Syndrome	Highly arched eyebrow, Synophrys, Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of F...	ORPHA:261494
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Diamond-Blackfan Anemia 1	Congestive heart failure, Tricuspid stenosis, Downslanted palpebral fissures, Coarctation of aort...	OMIM:105650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos, Telecanthus, Eyelid coloboma	OMIM:607597
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Developmental cataract, C...	OMIM:606721
Cardiospondylocarpofacial Syndrome	Telecanthus, Hypoplastic aortic arch, Upslanted palpebral fissure, Ptosis, Epicanthus, Mitral reg...	OMIM:157800
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Fanconi Anemia, Complementation Group A	Microphthalmia, Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism	OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Fg Syndrome Type 1	Downslanted palpebral fissures, Optic nerve hypoplasia, Coarctation of aorta, Pulmonary arterial ...	ORPHA:93932
Aspartylglucosaminuria	Cataract, Mitral regurgitation	OMIM:208400
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Hypergonadotropic hypogonadism, Attention deficit hyperactivity...	OMIM:227646
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Vascular dilatation, Pulmonic stenosis, Aortic dissection, Varicose veins, Upslanted palpebral fi...	OMIM:618343
Craniofacial Microsomia 1	Microphthalmia, Upper eyelid coloboma, Anophthalmia, Right aortic arch, Ptosis, Coarctation of ao...	OMIM:164210
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:600901
Frontonasal Dysplasia 2	Short palpebral fissure, Microphthalmia, Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted...	OMIM:613451
Dyskeratosis Congenita, X-Linked	Cataract, Conjunctivitis, Pterygium	OMIM:305000
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Aortic regurgitation, Patent ductus...	ORPHA:99094
Joubert Syndrome 2	Microphthalmia, Chorioretinal coloboma, Optic disc coloboma	OMIM:608091
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, Ca...	ORPHA:99125
Steinert Myotonic Dystrophy	Impotence, Cognitive impairment, Aggressive behavior, Decreased response to growth hormone stimul...	ORPHA:273
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ischemic stroke, Transposition of the great arteries, Medial flaring of the eyebrow, Hypoplastic ...	OMIM:619503
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Cardiac Valvular Dysplasia 1	Arteria lusoria, Left aortic arch with cervical origin of the right subclavian artery, Valvular p...	OMIM:212093
Fanconi Anemia, Complementation Group L	Attention deficit hyperactivity disorder, Microphthalmia, Aplasia of the uterus, Micropenis	OMIM:614083
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Total anomalous pulmonary venous return, Ptosis, Antecubital...	OMIM:609945
Acrocardiofacial Syndrome	Truncus arteriosus, Long eyelashes, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot	ORPHA:2008
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm	OMIM:618891
Intellectual Developmental Disorder, X-Linked 112	Retinopathy, Right aortic arch	OMIM:301111
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:99819
Congenital Disorder Of Glycosylation, Type It	Pulmonary arterial hypertension, Coarctation of aorta, Tachycardia, Aborted sudden cardiac death,...	OMIM:614921
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Right Atrial Isomerism	Transposition of the great arteries, Pulmonary artery atresia, Total anomalous pulmonary venous r...	OMIM:208530
45,X/46,Xy Mixed Gonadal Dysgenesis	Developmental glaucoma, Prolonged QT interval, Coarctation of aorta, Epicanthus, Tachycardia	ORPHA:1772
Toriello-Carey Syndrome	Short palpebral fissure, Telecanthus, Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Sp...	ORPHA:3338
Fanconi Anemia, Complementation Group B	Coarctation of aorta, Optic disc hypoplasia, Patent ductus arteriosus	OMIM:300514
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Blepharophimosis, Abnormal retinal morphology	OMIM:610758
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Sparse lateral eyebrow, Abnormality of retinal...	ORPHA:50
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Gabriele-De Vries Syndrome	Telecanthus, Epiblepharon, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Aortopulmonary...	OMIM:617557
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co...	OMIM:620066
Lesch-Nyhan Syndrome	Testicular atrophy, Self-injurious behavior, Dysphagia	OMIM:300322
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:424
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp...	OMIM:146510
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
15Q11.2 Microdeletion Syndrome	Coarctation of aorta, Tetralogy of Fallot, Total anomalous pulmonary venous return	ORPHA:261183
17Q11 Microdeletion Syndrome	Retinal vascular proliferation, Stroke, Hypertension, Renal artery stenosis, Hypertrophic cardiom...	ORPHA:97685
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:227645
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta	OMIM:217085
Pagod Syndrome	Optic atrophy, Abnormal aortic morphology, Pulmonary artery hypoplasia, Arrhythmia, Abnormality o...	ORPHA:991
Ehlers-Danlos Syndrome, Vascular Type	Arterial rupture, Keratoconus, Descending aortic dissection, Ascending aortic dissection, Dilatat...	OMIM:130050
Heart Defects, Congenital, And Other Congenital Anomalies	Transposition of the great arteries, Interrupted aortic arch, Truncus arteriosus, Pulmonic stenos...	OMIM:600001
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Optic atrophy, Telecanthus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valv...	OMIM:618164
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Astigmatism, Broad eyebrow, Telecanthus, Axenfeld anomaly, Cataract, Retinal colo...	ORPHA:261537
Smith-Lemli-Opitz Syndrome	Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Coarctation of aorta, Ptosis...	OMIM:270400
Autosomal Recessive Robinow Syndrome	Abnormal aortic morphology, Long eyelashes, Long palpebral fissure, Ptosis, Downslanted palpebral...	ORPHA:1507
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Maternal Phenylketonuria	Bilateral ptosis, Coarctation of aorta, Tetralogy of Fallot, Epicanthus, Double outlet right vent...	ORPHA:2209
Meacham Syndrome	Transposition of the great arteries, Anomalous pulmonary venous return, Aortic valve stenosis, Co...	ORPHA:3097
Teebi-Shaltout Syndrome	Microphthalmia, Telecanthus, Highly arched eyebrow, Aortic valve stenosis, Ptosis	OMIM:272950
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Mowat-Wilson Syndrome	Microphthalmia, Astigmatism, Broad eyebrow, Telecanthus, Axenfeld anomaly, Retinal coloboma, Pulm...	ORPHA:2152
Biliary, Renal, Neurologic, And Skeletal Syndrome	Bidirectional shunt, Aortic regurgitation, Right aortic arch, Coloboma, Cardiac arrest, Pulmonary...	OMIM:619534
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Transposition of the great arteries, Interrupted aortic arch, Pulmonic stenosis, Pulmonary artery...	ORPHA:2255
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Sparse lateral eyebrow, Right aortic arch, Increased axial length of the globe	ORPHA:513456
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Interrupted aortic arch, Scimitar anomaly, Tetralogy of Fallot, Partial...	OMIM:618280
Tetrasomy 9P	Abnormal chorioretinal morphology, Juxtaductal coarctation of the aorta, Pulmonary arterial hyper...	ORPHA:3310
Fontaine Progeroid Syndrome	Short palpebral fissure, Microphthalmia, Aplastic/hypoplastic lacrimal glands, Aortic aneurysm, T...	OMIM:612289
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract	ORPHA:93271
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Motor stereotypy, Se...	ORPHA:468631
Adams-Oliver Syndrome 1	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary arter...	OMIM:100300
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Aneurysm-Osteoarthritis Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Aortic regurgitation...	ORPHA:284984
Heterotaxy, Visceral, 5, Autosomal	Partial anomalous pulmonary venous return, Atrial reentry tachycardia, Ascending tubular aorta an...	OMIM:270100
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Neck pterygia, Aortic arch aneurysm, Arterial dissection, Ao...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Neck pterygia, Aortic arch aneurysm, Arterial dissection, Ao...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Neck pterygia, Aortic arch aneurysm, Arterial dissection, Ao...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Neck pterygia, Aortic arch aneurysm, Arterial dissection, Ao...	ORPHA:881
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo...	ORPHA:672
Loeys-Dietz Syndrome	Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Cardiac arrest, Arterial dissection, A...	ORPHA:60030
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Left ventricular systolic dysfunction, Choroidal neovascularization, ...	ORPHA:51608
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Degcags Syndrome	Microphthalmia, Tachycardia, Abnormal eyelash morphology, Pulmonary arterial hypertension, Long e...	OMIM:619488
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi...	ORPHA:141127
Yunis-Varon Syndrome	Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Heart murmur, Cataract	OMIM:216340
Right Pulmonary Artery, Anomalous Origin Of, Familial	Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc...	OMIM:610338
Hardikar Syndrome	Hematemesis, Partial anomalous pulmonary venous return, Hypertension, Portal hypertension, Pulmon...	OMIM:301068
Nicolaides-Baraitser Syndrome	Long eyelashes, Absent eyebrow, Downslanted palpebral fissures, Coarctation of aorta, Unilateral ...	OMIM:601358
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Downslanted palpebral fissures, Cataract	OMIM:304120
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Esophageal Atresia	Coarctation of aorta, Tetralogy of Fallot, Coloboma	ORPHA:1199
Orofaciodigital Syndrome Vi	Coarctation of aorta, Epicanthus	OMIM:277170
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Floating-Harbor Syndrome	Persistent left superior vena cava, Abnormal anterior chamber morphology, Coarctation of aorta, T...	ORPHA:2044
Catel-Manzke Syndrome	Coarctation of aorta, Thin eyebrow, Overriding aorta, Upslanted palpebral fissure, Nasolacrimal d...	OMIM:616145
Igg4-Related Kidney Disease	Pericarditis, Abnormal aortic morphology, Dacryocystitis, Arteritis	ORPHA:449395
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus	OMIM:600460
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ptosis, Coarctation of aorta, Tetralogy of Fallot	OMIM:618748
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Coarctation of aorta, Downslanted palpebr...	OMIM:163950
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Mosaic Trisomy 16	Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus	ORPHA:1708
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Downslanted palpebral fissures, Coarctation of aorta, Epicanthus, Patent ductus arteriosus	OMIM:619480
Pallister-Killian Syndrome	Telecanthus, Hypertrophic cardiomyopathy, Aortic valve stenosis, Sparse eyelashes, Coarctation of...	OMIM:601803
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Long palpebral fissure, Ptosis, Coarctation of aorta, Sp...	OMIM:147920
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Downslanted palpebral fissures, Coarctation of aorta, Epicanthus, Patent ductus arteriosus	OMIM:617088
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Hypertension, Hypertrophic cardiomyopathy, Coarctation of aorta, Mitral re...	OMIM:220111
Femoral-Facial Syndrome	Truncus arteriosus, Pulmonic stenosis, Coarctation of aorta, Epicanthus, Patent ductus arteriosus...	OMIM:134780
Mullegama-Klein-Martinez Syndrome	Coarctation of aorta, Curly eyelashes	OMIM:301022
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Bifid uterus	OMIM:236680
Robinow Syndrome	Pulmonic stenosis, Coarctation of aorta	ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Sparse eyelashes, Coarctation of aorta, Sparse eyebrow, Tetralogy of Fallot	OMIM:210710
Floating-Harbor Syndrome	Persistent left superior vena cava, Coarctation of aorta, Long eyelashes	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.

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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

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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

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Access Data Release 21.0 Data