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Gene: Cryaa MGI:88515

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

crystallin, alpha A

Synonyms:

Acry-1, alpha-A-crystallin, Crya-1, Crya1, DAcry-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Cryaa 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 Cryaa (2 diseases)
Human diseases predicted to be associated with Cryaa (701 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract-Microcornea Syndrome		Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cataract 9, Multiple Types		Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219

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

Disease	Matching phenotypes	Source
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Trichomegaly	Cataract	OMIM:190330
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Cataract 7	Developmental cataract	OMIM:115660
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Galactosemia Iv	Cataract	OMIM:618881
Nathalie Syndrome	Cataract	ORPHA:2663
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
X-Linked Retinoschisis	Cataract	ORPHA:792
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Galactosemia Ii	Cataract	OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cataract 47	Microcornea, Cataract	OMIM:612018
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Nathalie Syndrome	Cataract	OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Cataract 49	Posterior cortical cataract	OMIM:619593
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Pellagra-Like Syndrome	Cataract	OMIM:260650
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Gombo Syndrome	Microphthalmia	OMIM:233270
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Aniridia 3	Aniridia, Cataract	OMIM:617142
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Cataract 48	Cataract	OMIM:618415
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Nanophthalmos	Microphthalmia	ORPHA:35612
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cataract 24	Anterior polar cataract	OMIM:601202
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Retinitis Pigmentosa 84	Cataract, Macular coloboma	OMIM:618220
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Nuclear cataract, Cataract	OMIM:608885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Stickler Syndrome, Type V	Cataract	OMIM:614284
Morm Syndrome	Cataract	ORPHA:75858
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Achromatopsia 3	Cataract	OMIM:262300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Mevalonic Aciduria	Nuclear cataract, Cataract	OMIM:610377
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Morning Glory Disc Anomaly	Optic disc coloboma, Cataract	ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus	OMIM:615297
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Congenital Rubella Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Stiff Skin Syndrome	Cataract	OMIM:184900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior...	OMIM:221900
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma	OMIM:613835
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Mevalonic Aciduria	Cataract	ORPHA:29
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Senior-Loken Syndrome	Cataract	ORPHA:3156
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Flynn-Aird Syndrome	Cataract	OMIM:136300
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Combined Oxidative Phosphorylation Deficiency 13	Cataract	OMIM:614932
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Monilethrix	Cataract	ORPHA:573
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro...	ORPHA:91495
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent ductus arteriosus, Peters anomaly	OMIM:618652
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract	OMIM:615350
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Shallow anterior chamber	OMIM:277600
Autosomal Recessive Spastic Paraplegia Type 26	Cataract	ORPHA:101006
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Microphthalmia, Cataract, Iris transillumination defect	OMIM:617306
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Patent ductus arteriosus, Microphthalmia, Iris coloboma	ORPHA:77298
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Gyrate Atrophy Of Choroid And Retina	Cataract, Subcapsular cataract	ORPHA:414
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract	OMIM:615704
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Subcapsular cataract, Cataract	OMIM:612674
Hemochromatosis, Type 4	Cataract	OMIM:606069
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Patent ductus arteriosus, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Knobloch Syndrome 1	Band keratopathy, Patent ductus arteriosus, Phthisis bulbi, Developmental cataract, Iris transill...	OMIM:267750
Trisomy 13	Anophthalmia, Cataract, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia,...	ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Patent ductus arteriosus	ORPHA:2547
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteriosus, Microspherophaki...	OMIM:608328
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract	OMIM:612379
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Phace Association	Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Kapur-Toriello Syndrome	Microphthalmia, Patent ductus arteriosus, Iris coloboma	ORPHA:2328
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Kapur-Toriello Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma	OMIM:244300
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Bardet-Biedl Syndrome 9	Astigmatism, Cataract	OMIM:615986
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Knobloch Syndrome 2	Patent ductus arteriosus, Anterior cortical cataract	OMIM:618458
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract	ORPHA:79107
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Baraitser-Winter Syndrome 1	Microphthalmia, Patent ductus arteriosus, Iris coloboma	OMIM:243310
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Harlequin Ichthyosis	Cataract	ORPHA:457
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract	ORPHA:370997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Cadds	Cataract	ORPHA:369942
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Chromosome Xp11.3 Deletion Syndrome	Posterior subcapsular cataract, Cataract	OMIM:300578
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract	ORPHA:637
3Q29 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract	ORPHA:65286
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Intermediate Uveitis	Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Patent ductus ...	OMIM:206900
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulc...	OMIM:153400
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Microphthalmia, Lenz Type	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:568
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
1Q21.1 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma	ORPHA:250989
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ocular albinism, Iris hypopigmentation	ORPHA:2720
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t...	OMIM:154700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Atelis Syndrome 2	Microphthalmia, Patent ductus arteriosus, Developmental cataract	OMIM:620185
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M...	OMIM:236670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Patent ductus arteriosus, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Monosomy 18P	Microphthalmia	ORPHA:1598
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Patent ductus arteriosus, Hypoplasia of the iris, Microphthalmia...	ORPHA:2092
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Moebius Syndrome	Microphthalmia	OMIM:157900
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
3P25.3 Microdeletion Syndrome	Microphthalmia, Patent ductus arteriosus	ORPHA:435638
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Patent ductus arteriosus, Microc...	ORPHA:141099
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Mosaic Trisomy 9	Microphthalmia, Patent ductus arteriosus, Corneal opacity	ORPHA:99776
Cat Eye Syndrome	Microphthalmia, Patent ductus arteriosus, Iris coloboma	OMIM:115470
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia	ORPHA:564
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract	OMIM:308300
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Mednik Syndrome	Cataract	OMIM:609313
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Trisomy 18	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:3380
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Incontinentia Pigmenti	Keratitis, Microphthalmia, Cataract, Corneal opacity	ORPHA:464
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Blau Syndrome	Cataract, Iritis, Band keratopathy	OMIM:186580
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Treacher-Collins Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract, Iris coloboma	ORPHA:861
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:234100
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract	OMIM:620005
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Patent ductus arteriosus	OMIM:619148
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma	ORPHA:268249
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Sympathetic Ophthalmia	Anterior chamber cells, Cataract, Corneal keratic precipitates, Posterior synechiae of the anteri...	ORPHA:79098
Cohen Syndrome	Microphthalmia, Iris coloboma	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal...	OMIM:253280
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Jacobsen Syndrome	Microcornea, Microphthalmia, Macular hypoplasia, Iris coloboma	OMIM:147791
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Fanconi Anemia, Complementation Group F	Microphthalmia, Patent ductus arteriosus	OMIM:603467
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Cockayne Syndrome B	Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,...	OMIM:133540
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Patent ductus arteriosus, Peters anomaly	OMIM:616975
Microphthalmia, Syndromic 2	Anophthalmia, Patent ductus arteriosus, Phthisis bulbi, Developmental cataract, Microcornea, Micr...	OMIM:300166
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Cataract	ORPHA:2526
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Myhre Syndrome	Microphthalmia, Patent ductus arteriosus, Cataract	OMIM:139210
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera...	ORPHA:191
Fanconi Anemia	Cataract, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia	ORPHA:84
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Patent ductus arteriosus	OMIM:616300
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Holoprosencephaly	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2162
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia	ORPHA:534
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Pallister-Hall Syndrome	Microphthalmia, Patent ductus arteriosus	OMIM:146510
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
22Q11.2 Deletion Syndrome	Cataract, Patent ductus arteriosus, Microphthalmia, Posterior embryotoxon, Corneal neovasculariza...	ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon	ORPHA:2556
Neu-Laxova Syndrome 1	Microphthalmia, Patent ductus arteriosus, Cataract, Pterygium	OMIM:256520
Mowat-Wilson Syndrome	Cataract, Patent ductus arteriosus, Microcornea, Ectopia pupillae, Microphthalmia, Iris coloboma	OMIM:235730
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Fanconi Anemia, Complementation Group D2	Microphthalmia, Patent ductus arteriosus	OMIM:227646
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Meckel Syndrome, Type 1	Microphthalmia, Patent ductus arteriosus, Iris coloboma	OMIM:249000
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Charge Syndrome	Microphthalmia, Patent ductus arteriosus, Anophthalmia, Iris coloboma	ORPHA:138
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Townes-Brocks Syndrome	Cataract, Patent ductus arteriosus, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma	OMIM:620186
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Charge Syndrome	Anophthalmia, Cataract, Patent ductus arteriosus, Unilateral microphthalmos, Microphthalmia, Iris...	OMIM:214800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Monosomy 9P	Microphthalmia	ORPHA:261112
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Opacification of the corneal stroma, Microph...	OMIM:268300
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Witteveen-Kolk Syndrome	Anisocoria, Microphthalmia, Cataract, Iris coloboma	OMIM:613406
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Degcags Syndrome	Microphthalmia, Patent ductus arteriosus	OMIM:619488
Fontaine Progeroid Syndrome	Microphthalmia, Patent ductus arteriosus	OMIM:612289
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Patent ductus arteriosus, Abnormal pupil morphology, Microcornea, Ectopia...	ORPHA:261552
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Mowat-Wilson Syndrome	Cataract, Patent ductus arteriosus, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
8Q24.3 Microdeletion Syndrome	Patent ductus arteriosus, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Pallister-Hall Syndrome	Microphthalmia, Patent ductus arteriosus	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Patent ductus arteriosus, Anophthalmia	OMIM:164210
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680

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 Cryaa

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 Cryaa.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cryaa^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cryaa^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cryaa^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cryaa^{tm213536(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Cryaa^em1(IMPC)Ics	Intra-exon deletion	Mice

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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