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Gene: Lim2 MGI:104698

Gene Summary

Name:

lens intrinsic membrane protein 2

Synonyms:

MP19, 19kDa

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lim2 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 Lim2 (1 diseases)
Human diseases predicted to be associated with Lim2 (743 diseases)

The table below shows human diseases associated to Lim2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 19, Multiple Types		Cortical pulverulent cataract	OMIM:615277

The table below shows human diseases predicted to be associated to Lim2 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 44	Developmental cataract	OMIM:616509
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
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 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
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Cataract 7	Developmental cataract	OMIM:115660
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Trichomegaly	Cataract	OMIM:190330
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Nathalie Syndrome	Cataract	ORPHA:2663
Galactosemia Iv	Cataract	OMIM:618881
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
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 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia,...	ORPHA:83461
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
X-Linked Retinoschisis	Cataract	ORPHA:792
Galactosemia Ii	Cataract	OMIM:230200
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
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
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
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
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Cataract 47	Microcornea, Cataract	OMIM:612018
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Nathalie Syndrome	Cataract	OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Developmental cataract	ORPHA:1375
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Aniridia 3	Aniridia, Cataract	OMIM:617142
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob...	OMIM:212550
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Cataract 49	Posterior cortical cataract	OMIM:619593
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Pellagra-Like Syndrome	Cataract	OMIM:260650
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia	OMIM:251270
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr...	OMIM:143200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia	OMIM:616171
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Cataract 48	Cataract	OMIM:618415
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior...	OMIM:612109
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation	ORPHA:35737
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract, Optic disc pallor	OMIM:613730
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Cofs Syndrome	Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:1466
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Morm Syndrome	Cataract, Retinal atrophy	ORPHA:75858
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Cone-Rod Dystrophy 16	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:614500
Stickler Syndrome, Type V	Retinal detachment, Cataract	OMIM:614284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Cataract 24	Anterior polar cataract	OMIM:601202
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia	OMIM:610125
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Vitreoretinochoroidopathy	Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop...	OMIM:193220
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy	OMIM:204100
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial atrophy	OMIM:616108
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c...	ORPHA:139471
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment	ORPHA:209956
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Nuclear cataract, Cataract	OMIM:608885
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Cataract, Optic atrophy, Retinal degeneration	OMIM:204200
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy	ORPHA:329314
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia	OMIM:613153
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Gombo Syndrome	Microphthalmia	OMIM:233270
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Mevalonic Aciduria	Nuclear cataract, Cataract	OMIM:610377
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Achromatopsia 3	Cataract	OMIM:262300
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Optic atrophy, Developmental cataract	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen	OMIM:204000
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As...	OMIM:152950
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M...	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract	ORPHA:3156
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia	OMIM:617306
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Retinal degener...	OMIM:600059
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Coloboma	OMIM:274270
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn...	OMIM:602499
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Familial Exudative Vitreoretinopathy	Cataract, Rhegmatogenous retinal detachment, Abnormal optic disc morphology, Retinal neovasculari...	ORPHA:891
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract, Optic atrophy, Coloboma	OMIM:612379
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Astigmatism	ORPHA:250984
Retinitis Pigmentosa 2	Pigmentary retinopathy, Cataract	OMIM:312600
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Stiff Skin Syndrome	Cataract	OMIM:184900
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy	OMIM:612572
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Microphthalmia, Shallow anterior chamber, Retinal neovascularization	OMIM:305390
Crome Syndrome	Developmental cataract	OMIM:218900
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia	OMIM:615877
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Peroxisome Biogenesis Disorder 14B	Developmental cataract	OMIM:614920
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Cataract	OMIM:614307
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Birdshot Chorioretinopathy	Retinal detachment, Cataract, Optic disc pallor, Macular scar	ORPHA:179
Mevalonic Aciduria	Cataract	ORPHA:29
Frontonasal Dysplasia 1	Microphthalmia, Cataract, Coloboma	OMIM:136760
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Flynn-Aird Syndrome	Cataract	OMIM:136300
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Flat cornea	OMIM:618283
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 13	Cataract	OMIM:614932
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Microphthalmia, Corneal opacity	ORPHA:2788
Stickler Syndrome, Type Ii	Retinal detachment, Cataract	OMIM:604841
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma, Peters anomaly	OMIM:618652
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:791
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Stickler Syndrome Type 1	Retinal detachment, Cataract	ORPHA:90653
Monilethrix	Cataract	ORPHA:573
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract, Retinal pigment epithelial mottling	OMIM:614105
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Subcapsular cataract, Optic atrophy, Cataract	OMIM:612674
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract	OMIM:615350
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy, Developmental cataract	OMIM:614219
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya...	OMIM:609049
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Cataract	OMIM:268100
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Vitamin K Antagonist Embryofetopathy	Aplasia/Hypoplasia affecting the eye, Optic atrophy, Cataract	ORPHA:1914
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Achondrogenesis Type 2	Retinal detachment, Cataract, Lens subluxation	ORPHA:93296
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth...	OMIM:614222
Autosomal Recessive Spastic Paraplegia Type 26	Cataract	ORPHA:101006
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Corneal opacity, Cataract, Optic atrophy, Microcornea, Retinal ...	ORPHA:899
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Retinal degeneration, Cataract	OMIM:615986
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Optic atrophy, Developmental cataract	OMIM:615663
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Coloboma	OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Cataract	ORPHA:163649
Refsum Disease	Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:773
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
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract	OMIM:615704
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Srd5A3-Cdg	Optic atrophy, Coloboma, Cataract, Optic disc hypoplasia	ORPHA:324737
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Weill-Marchesani Syndrome 1	Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis	OMIM:277600
Trisomy 13	Anophthalmia, Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr...	ORPHA:2510
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
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
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Hemochromatosis, Type 4	Cataract	OMIM:606069
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma	ORPHA:494344
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Mmep Syndrome	Microphthalmia	ORPHA:3434
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Optic atrophy	OMIM:300578
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy	OMIM:268315
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Phace Association	Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Coloboma,...	ORPHA:85167
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema, Developmental cataract	OMIM:127000
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Optic atr...	OMIM:236670
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract	ORPHA:370997
Papillorenal Syndrome	Retinal detachment, Cataract, Lens luxation, Optic disc coloboma, Macular degeneration, Retinal c...	OMIM:120330
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Refsum Disease, Classic	Cataract, Retinal degeneration	OMIM:266500
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea	OMIM:614230
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Knobloch Syndrome 1	Band keratopathy, Developmental cataract, Iris transillumination defect, Macular hypoplasia, Lens...	OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Intermediate Uveitis	Posterior synechiae of the anterior chamber, Cataract, Macular scar, Band keratopathy	ORPHA:279914
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr...	OMIM:206900
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:858
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract	ORPHA:79107
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Harlequin Ichthyosis	Cataract	ORPHA:457
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:585
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Cadds	Cataract	ORPHA:369942
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Congenital Tufting Enteropathy	Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract	ORPHA:637
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Absent anterior chamber of the eye...	OMIM:259770
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Optic atrophy, Retinal hemorrha...	OMIM:308300
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia	OMIM:251300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea...	ORPHA:141099
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Optic atrophy	OMIM:201180
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ocular albinism, Iris hypopigmentation	ORPHA:2720
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3380
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract, Coloboma	OMIM:603457
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ...	ORPHA:79098
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Keratitis, Retinal hemorrhage, Microphthalmia	ORPHA:464
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Microcornea,...	ORPHA:564
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism	OMIM:154700
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Stevenson-Carey Syndrome	Microphthalmia, Coloboma	OMIM:611961
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Jacobsen Syndrome	Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris colo...	OMIM:147791
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Retinal hemorrhage, Developmental cataract, Hypoplasia of the iris, M...	OMIM:175780
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Retinal hemorrhage, Microcornea, Keratoconjunctivit...	ORPHA:90324
Hallermann-Streiff Syndrome	Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ...	ORPHA:2092
Knobloch Syndrome	Retinal detachment, Macular degeneration, Cataract, Ectopia lentis	ORPHA:1571
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R...	ORPHA:2526
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos	OMIM:615085
Cohen Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:193
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Joubert Syndrome 14	Microphthalmia, Optic atrophy, Coloboma	OMIM:614424
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Aicardi Syndrome	Retinal detachment, Cataract, Optic disc coloboma, Optic atrophy, Microphthalmia	OMIM:304050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma	ORPHA:251014
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Mednik Syndrome	Cataract	OMIM:609313
Monosomy 18P	Microphthalmia	ORPHA:1598
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Band keratopat...	ORPHA:191
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Develo...	OMIM:300166
Moebius Syndrome	Microphthalmia	OMIM:157900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Cockayne Syndrome B	Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Pigmentary retinopath...	OMIM:133540
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degeneration, Keratoconjun...	ORPHA:33364
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Blau Syndrome	Cataract, Iritis, Band keratopathy	OMIM:186580
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Microphthalmi...	ORPHA:508498
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Holoprosencephaly	Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:2162
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Optic atrophy, Coloboma, Peters anomaly	OMIM:616975
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:613884
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Sclerocornea, Retinal dysplas...	ORPHA:2556
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma	OMIM:608091
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Renpenning Syndrome 1	Microphthalmia, Cataract, Coloboma	OMIM:309500
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Pseudotrisomy 13 Syndrome	Microphthalmia, Cyclopia	OMIM:264480
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia	ORPHA:534
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract	ORPHA:84
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:235730
22Q11.2 Deletion Syndrome	Cataract, Optic atrophy, Microphthalmia, Posterior embryotoxon, Corneal neovascularization	ORPHA:567
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia, Ir...	OMIM:305600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:620186
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Charge Syndrome	Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:138
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir...	OMIM:214800
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Microcornea, Coloboma, Microphthalmia	OMIM:607932
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:113620
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia	ORPHA:2166
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Witteveen-Kolk Syndrome	Anisocoria, Microphthalmia, Cataract, Iris coloboma	OMIM:613406
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia	OMIM:268300
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia	ORPHA:1106
Microphthalmia, Syndromic 1	Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi...	OMIM:309800
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ...	ORPHA:261552
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Monosomy 9P	Microphthalmia	ORPHA:261112
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Degcags Syndrome	Microphthalmia	OMIM:619488
Mowat-Wilson Syndrome	Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508488
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Lim2

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 Lim2.

No publications found that use IMPC mice or data for Lim2.

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
Lim2^{tm215149(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Lim2^em1(IMPC)Bay	Exon Deletion	Mice
Lim2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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