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Gene: Cryba1 MGI:88518

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

crystallin, beta A1

Synonyms:

BA3/A1, Cryb

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 Cryba1 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 Cryba1 (1 diseases)
Human diseases predicted to be associated with Cryba1 (562 diseases)

The table below shows human diseases associated to Cryba1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 10, Multiple Types		Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881

The table below shows human diseases predicted to be associated to Cryba1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
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
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Trichomegaly	Cataract	OMIM:190330
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract, Chorioretinal coloboma	OMIM:274205
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Galactokinase Deficiency	Abnormal circulating enzyme concentration or activity, Cataract, Increased level of galactitol in...	ORPHA:79237
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Galactosemia Iv	Cataract	OMIM:618881
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Nathalie Syndrome	Cataract	ORPHA:2663
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Galactosemia Ii	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cataract 47	Microcornea, Cataract	OMIM:612018
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Gombo Syndrome	Microphthalmia	OMIM:233270
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	ORPHA:363741
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Mevalonic Aciduria	Elevated hepatic transaminase, Optic disc pallor, Cataract, Elevated circulating creatine kinase ...	OMIM:610377
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Conjugated hyperbilirubinemia, Jaundice, Hyperkalemia, Nuclear cataract, Elevated gamma...	OMIM:608885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nanophthalmos	Microphthalmia	ORPHA:35612
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Cofs Syndrome	Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:1466
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism, Cataract, Optic disc pallor	OMIM:613730
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number, Mildly elevated creatine kinase	ORPHA:457050
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Cataract, Decreased liver function, Hyperg...	ORPHA:570422
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract, Hypoalbuminemia, Elevated circulating alanine aminotransferase concentr...	OMIM:618805
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:615181
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin...	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Elevated circulating creatine kinase concentration, Developmen...	OMIM:613155
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Optic atrophy, Abnormal mitochondrial morpholog...	OMIM:300438
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, Cryptorchidism, Microcornea, C...	OMIM:610125
Warburg Micro Syndrome 1	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:600118
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya...	OMIM:609049
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Coloboma, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Jaundice, Aplasia/Hypoplasia of t...	ORPHA:290
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism, Microcornea	OMIM:601349
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Retinal dys...	ORPHA:899
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia	OMIM:619063
Dna2-Related Mitochondrial Dna Deletion Syndrome	Elevated creatine kinase after exercise, Decreased mitochondrial number	ORPHA:352470
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Aniridia 3	Aniridia, Cataract	OMIM:617142
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Optic atrophy, Coloboma, Microphthalmia	OMIM:612379
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Coloboma, M...	OMIM:615249
Spastic Paraplegia Type 7	Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology	ORPHA:99013
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Cataract 24	Anterior polar cataract	OMIM:601202
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Mmep Syndrome	Microphthalmia	ORPHA:3434
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Jaundice, Cataract, Zonular cataract	ORPHA:168577
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Microcornea	ORPHA:487825
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Craniolenticulosutural Dysplasia	Cryptorchidism, Punctate cataract, Optic atrophy, Posterior Y-sutural cataract	OMIM:607812
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Coloboma, Peters anomaly	OMIM:618652
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia	OMIM:617306
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Frontonasal Dysplasia 1	Microphthalmia, Cataract, Coloboma	OMIM:136760
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Optic atrophy, Cataract	ORPHA:543470
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	ORPHA:370959
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Microcornea	OMIM:602342
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ph...	OMIM:267750
Schwannomatosis, Vestibular	Retinal hamartoma, Juvenile posterior subcapsular lenticular opacities, Epiretinal membrane, Cort...	OMIM:101000
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microphthalmia, Cataract, Retinal pigment epithelial mottling	OMIM:614105
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti...	OMIM:278730
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth...	OMIM:614222
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Fanconi Anemia, Complementation Group G	Microphthalmia, Abnormality of chromosome stability	OMIM:614082
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Rothmund-Thomson Syndrome, Type 2	Cataract, Cryptorchidism, Microcornea, Microphthalmia, Zonular cataract	OMIM:268400
Trisomy 13	Anophthalmia, Cataract, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla...	ORPHA:3378
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Warburg Micro Syndrome 4	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Decreased tes...	OMIM:615663
Warburg Micro Syndrome 2	Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration, Buphthalmos, Mic...	OMIM:616538
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia	OMIM:615877
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy, Developmental cataract	OMIM:614219
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Developmental cataract	OMIM:620185
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris...	ORPHA:3301
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmi...	ORPHA:494344
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic...	ORPHA:42775
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:85284
Cataract 49	Posterior cortical cataract	OMIM:619593
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Congenital Toxoplasmosis	Elevated hepatic transaminase, Microphthalmia, Jaundice, Abnormality of retinal pigmentation	ORPHA:858
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Congenital aphakia	ORPHA:137675
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism, Cataract	OMIM:214150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina...	ORPHA:2510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus	ORPHA:163649
Weill-Marchesani Syndrome 1	Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract	OMIM:277600
Congenital Fibrinogen Deficiency	Microphthalmia, Decreased testicular size, Developmental cataract	ORPHA:335
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Refsum Disease	Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:773
Kapur-Toriello Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:244300
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Elevated ...	OMIM:236670
Microphthalmia, Lenz Type	Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmi...	ORPHA:568
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters	OMIM:618458
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hypocalcemia	OMIM:602361
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
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
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling, Elevated circulating aspartate aminotransferase concentration, Elevated g...	OMIM:615595
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Cryptorchidism, Retinopathy, Microcornea	ORPHA:2505
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Fumarase Deficiency	Decreased fumarate hydratase activity, Conjunctival icterus, Intrahepatic cholestasis, Optic atro...	OMIM:606812
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Coloboma	OMIM:615665
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Chromosomal breakage induced by crosslinking...	OMIM:609053
Phace Association	Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic...	OMIM:606519
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia	OMIM:614230
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Elevated circulating creatine kinase concentration	ORPHA:352447
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Lowe Oculocerebrorenal Syndrome	Increased circulating lactate dehydrogenase concentration, Hypercholesterolemia, Elevated circula...	OMIM:309000
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia	OMIM:613001
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, ...	OMIM:253800
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration	OMIM:602541
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Hyperphosph...	ORPHA:93325
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Cryptorchidism...	OMIM:206900
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration	OMIM:619518
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling, Mildly elevated creatine kinase	ORPHA:397744
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Cataract, Developmental cataract	OMIM:212720
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Phthis...	OMIM:300166
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Elevated 8-dehydrocholesterol, Cataract, Elevated 8(9)-cholestenol	OMIM:302960
Adams-Oliver Syndrome	Microphthalmia, Cataract, Portal hypertension	ORPHA:974
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Ring Chromosome 10 Syndrome	Microphthalmia, Hypocalcemia	ORPHA:1438
Marfan Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl...	OMIM:154700
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Optic atrophy	ORPHA:485421
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Hyperalaninemia, Mitochondrial swelling	OMIM:618250
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Cataract, Iris coloboma	ORPHA:250989
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal st...	OMIM:251300
Barth Syndrome	Abnormal mitochondrial morphology	OMIM:302060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Methylmalon...	ORPHA:17
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,...	OMIM:308300
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures	OMIM:241410
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Abnormal circulating lipid concentration	ORPHA:3191
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 2	Microphthalmia	OMIM:606744
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosit...	OMIM:175780
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Microphthalmia	ORPHA:3412
Focal Dermal Hypoplasia	Acute hepatic failure, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal col...	ORPHA:2092
Joubert Syndrome 37	Microphthalmia, Cryptorchidism, Decreased testicular size	OMIM:619185
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Cyclo...	ORPHA:3380
Meckel Syndrome	Anophthalmia, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Cryptorchidism, Optic at...	ORPHA:564
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Abnormal circulating creatine kinase concentration	ORPHA:263297
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Iris coloboma, Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group S	Microphthalmia, Chromosome breakage	OMIM:617883
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cryptorchidism, Cataract, Coloboma	OMIM:603457
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Reti...	ORPHA:464
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, R...	ORPHA:90324
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Mend Syndrome	Cataract, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia	ORPHA:401973
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Micr...	ORPHA:193
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Cockayne Syndrome	Elevated hepatic transaminase, Abnormality of retinal pigmentation, Optic disc pallor, Cataract, ...	ORPHA:191
Monosomy 13Q14	Microphthalmia, Cataract, Retinoblastoma, Iris coloboma	ORPHA:1587
Hallermann-Streiff Syndrome	Cataract, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy...	ORPHA:2526
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Jacobsen Syndrome	Cryptorchidism, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphth...	OMIM:147791
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Acromelic Frontonasal Dysostosis	Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Dubowitz Syndrome	Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Megalocornea, Rod-co...	OMIM:223370
Stevenson-Carey Syndrome	Microphthalmia, Coloboma	OMIM:611961
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Cataract, Portal hypertension, Cryptorchidism, Elevated circulatin...	OMIM:620005
Moebius Syndrome	Microphthalmia, Decreased testicular size	OMIM:157900
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2189
Monosomy 9Q22.3	Microphthalmia, Cataract, Retinopathy	ORPHA:77301
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea...	ORPHA:141099
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Cryptorchidism	ORPHA:228390
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
2Q31.1 Microdeletion Syndrome	Cryptorchidism, Optic disc coloboma, Coloboma, Microphthalmia, Iris coloboma	ORPHA:251014
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism, Chorioretinal coloboma	OMIM:619135
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos, Defective DNA repair after ultraviolet radiation damage...	ORPHA:33364
Fanconi Anemia, Complementation Group R	Microphthalmia, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Monosomy 18P	Microphthalmia	ORPHA:1598
Fryns Syndrome	Microphthalmia, Cryptorchidism, Corneal opacity	ORPHA:2059
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Optic atrophy	OMIM:201180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Joubert Syndrome 14	Microphthalmia, Morning glory anomaly, Optic atrophy, Coloboma	OMIM:614424
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Mosaic Trisomy 9	Microphthalmia, Cryptorchidism, Corneal opacity	ORPHA:99776
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Corneal opacity, Chorio...	ORPHA:2556
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Aicardi Syndrome	Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht...	OMIM:304050
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Cockayne Syndrome B	Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Pigme...	OMIM:133540
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Holoprosencephaly	Hyponatremia, Anophthalmia, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Microphthalmia...	ORPHA:2162
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient ex...	OMIM:600901
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Chorioretinal dysplasia, Hypoammonemia, Hypercholesterol...	ORPHA:534
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism	OMIM:248700
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Developmental cataract	ORPHA:2108
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Treacher-Collins Syndrome	Microphthalmia, Cryptorchidism, Cataract, Iris coloboma	ORPHA:861
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Fanconi Anemia, Complementation Group A	Microphthalmia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient ex...	OMIM:227650
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:612530
Chromosome 13Q14 Deletion Syndrome	Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Retinoblastoma	OMIM:613884
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cryptorchidism, Optic atrophy, Coloboma, Peters anomaly, Microphthalmia	OMIM:616975
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Fanconi Anemia	Abnormality of chromosome stability, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Az...	ORPHA:84
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Fanconi Anemia, Complementation Group F	Microphthalmia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents	OMIM:603467
Roberts Syndrome	Microphthalmia, Cryptorchidism, Cataract	ORPHA:3103
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient ex...	OMIM:227645
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cryptorchidism	ORPHA:2728
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmi...	OMIM:263650
Pseudotrisomy 13 Syndrome	Microphthalmia, Cryptorchidism, Cyclopia	OMIM:264480
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma	OMIM:608091
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Renpenning Syndrome 1	Microphthalmia, Cataract, Decreased testicular size, Coloboma	OMIM:309500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Microphthalmi...	ORPHA:508498
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:619148
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Optic disc coloboma, Hydrocele testis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundi...	OMIM:620186
22Q11.2 Deletion Syndrome	Cataract, Retinal arteriolar tortuosity, Cryptorchidism, Optic atrophy, Hypocalcemia, Microphthal...	ORPHA:567
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Myhre Syndrome	Microphthalmia, Cryptorchidism, Cataract	OMIM:139210
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Cryptorchidism, Microcornea	OMIM:616734
Fanconi Anemia, Complementation Group D2	Microphthalmia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient ex...	OMIM:227646
Galloway-Mowat Syndrome 3	Microphthalmia, Hypoalbuminemia	OMIM:617729
Mowat-Wilson Syndrome	Cataract, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, ...	OMIM:235730
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Aniridia, Mi...	OMIM:305600
Ohdo Syndrome, X-Linked	Microphthalmia, Cryptorchidism	OMIM:300895
Fanconi Anemia, Complementation Group L	Microphthalmia, Chromosome breakage, Chromosomal breakage induced by crosslinking agents	OMIM:614083
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Fryns Syndrome	Microphthalmia, Cryptorchidism, Opacification of the corneal stroma	OMIM:229850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Meckel Syndrome, Type 1	Microphthalmia, Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, Iris coloboma	OMIM:249000
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Coloboma, Microphthalmia	OMIM:607932
Yunis-Varon Syndrome	Cataract, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Charge Syndrome	Anophthalmia, Cataract, Cryptorchidism, Unilateral microphthalmos, Coloboma, Retinal coloboma, Hy...	OMIM:214800
Neu-Laxova Syndrome 1	Microphthalmia, Cryptorchidism, Pterygium, Cataract	OMIM:256520
Charge Syndrome	Anophthalmia, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:138
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cryptorchidism, Cyclopia	ORPHA:2166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Cryptorchidism	OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Cryptorchidism, Antecubital pterygium, Popliteal pterygium	OMIM:609945
Pallister-Hall Syndrome	Microphthalmia, Cryptorchidism, Decreased testicular size	OMIM:146510
Townes-Brocks Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:113620
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia	ORPHA:1106
Holoprosencephaly 9	Microphthalmia, Cryptorchidism, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Witteveen-Kolk Syndrome	Cataract, Unilateral cryptorchidism, Anisocoria, Microphthalmia, Iris coloboma	OMIM:613406
Microphthalmia, Syndromic 9	Cryptorchidism, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Attenuation ...	ORPHA:468631
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Cryptorchidism, Coloboma, Opacification of the corneal stroma, Microph...	OMIM:268300
Fraser Syndrome 1	Cryptorchidism, Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Monosomy 9P	Microphthalmia, Cryptorchidism	ORPHA:261112
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti...	OMIM:309800
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Degcags Syndrome	Microphthalmia, Cryptorchidism, Hyperbilirubinemia	OMIM:619488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Cryptorchidism, Abnormal pupil morphology, Optic atrophy, Hydrocele testi...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Retinal coloboma, Axenfeld anomaly, Micr...	ORPHA:261537
Fontaine Progeroid Syndrome	Microphthalmia, Cryptorchidism	OMIM:612289
Mowat-Wilson Syndrome	Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Retinal coloboma, Axenfeld anomaly, Micr...	ORPHA:2152
Fraser Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2052
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos	OMIM:154500
Pallister-Hall Syndrome	Microphthalmia, Cryptorchidism, Decreased testicular size	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210

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 Cryba1

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 Cryba1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
CRYβA3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation.	PloS one (February 2016)	Cryba1^{tm1a(EUCOMM)Hmgu}	PMC4749210

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cryba1^{tm455(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cryba1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cryba1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cryba1^{tm455(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cryba1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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