Gene: Cryga MGI:88521

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

crystallin, gamma A

Synonyms:

Secc, DGcry-4, Cryg-4

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 Cryga 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 Cryga (0 diseases)
Human diseases predicted to be associated with Cryga (525 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 10, Multiple Types	Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Cataract 8, Multiple Types	Developmental cataract, Nuclear cataract	OMIM:115665
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 1, Multiple Types	Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract	OMIM:116200
Cataract 22, Multiple Types	Developmental cataract, Nuclear cataract	OMIM:609741
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
Cataract 15, Multiple Types	Nuclear cataract, Cortical cataract, Lamellar cataract	OMIM:615274
Cataract 33, Multiple Types	Nuclear cataract, Cortical cataract, Lamellar cataract	OMIM:611391
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 5, Multiple Types	Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract	OMIM:116800
Cataract 3, Multiple Types	Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract	OMIM:601547
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 30, Multiple Types	Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract	OMIM:116300
Cataract 44	Developmental cataract	OMIM:616509
Cataract 17, Multiple Types	Developmental cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:611544
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Cataract 2, Multiple Types	Nuclear pulverulent cataract, Aculeiform cataract, Developmental cataract, Nuclear cataract, Micr...	OMIM:604307
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 31, Multiple Types	Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract	OMIM:605387
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Cataract 20, Multiple Types	Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract	OMIM:116100
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy	ORPHA:293621
Cataract 39, Multiple Types	Developmental cataract, Anterior polar cataract, Lamellar cataract	OMIM:615188
Trichomegaly	Cataract	OMIM:190330
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Microphthalmia, Isolated, With Coloboma 10	Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia	OMIM:616428
Cataract 12, Multiple Types	Developmental cataract, Progressive cataract	OMIM:611597
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 7	Developmental cataract	OMIM:115660
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Corneal Dystrophy, Groenouw Type I	Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy	OMIM:121900
Cataract 21, Multiple Types	Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe...	OMIM:610202
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Cataract 9, Multiple Types	Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea	OMIM:604219
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma	OMIM:613703
Galactosemia Iv	Cataract	OMIM:618881
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Pupillary Membrane, Persistence Of	Megalocornea, Developmental cataract, Persistent pupillary membrane	OMIM:178900
Nathalie Syndrome	Cataract	ORPHA:2663
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Microphthalmia, Isolated, With Coloboma 5	Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia	OMIM:611638
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:120433
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal...	ORPHA:231736
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia, Syndromic 16	Anophthalmia, Sclerocornea, Microphthalmia	OMIM:611038
Cataract-Microcornea Syndrome	Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea	ORPHA:1377
Galactosemia Ii	Cataract	OMIM:230200
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Cataract 47	Cataract, Microcornea	OMIM:612018
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Microphthalmia	ORPHA:2432
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Congenital Primary Aphakia	Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M...	ORPHA:83461
Anterior Segment Dysgenesis 7	Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,...	OMIM:269400
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly	OMIM:609218
Retinitis Pigmentosa 37	Nuclear cataract, Posterior subcapsular cataract	OMIM:611131
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia	ORPHA:1068
Non Rare In Europe: Idiopathic Anterior Uveitis	Nuclear cataract, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract	ORPHA:280914
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma	OMIM:610023
Retinitis Pigmentosa 56	Nuclear cataract, Posterior subcapsular cataract	OMIM:613581
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Autosomal Dominant Keratitis	Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem...	ORPHA:2334
Cataract 49	Posterior cortical cataract	OMIM:619593
Retinal Dystrophy With Or Without Macular Staphyloma	Nuclear cataract, Posterior subcapsular cataract	OMIM:617547
Nathalie Syndrome	Cataract	OMIM:255990
Congenital Microcoria	Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,...	ORPHA:566
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae, Microphthalmia	OMIM:156900
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Cornea Plana 2, Autosomal Recessive	Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c...	OMIM:217300
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Anterior Segment Dysgenesis 2	Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia...	OMIM:610256
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Exudative Vitreoretinopathy 6	Cataract, Cortical cataract, Nuclear cataract	OMIM:616468
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri...	OMIM:604229
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Uveal Melanoma	Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Inferior lens subluxation	ORPHA:39044
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy	OMIM:221800
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:300915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry...	ORPHA:1473
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis, Increased axial length of the globe	OMIM:110150
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis	ORPHA:324416
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Gombo Syndrome	Microphthalmia	OMIM:233270
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Megalocornea	Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th...	OMIM:309300
Anterior Segment Dysgenesis 8	Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr...	OMIM:617319
Isolated Aniridia	Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Exfoliation Syndrome	Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm...	OMIM:177650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Retinal coloboma, Microphthalmia	OMIM:601794
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Pellagra-Like Syndrome	Cataract	OMIM:260650
Aniridia 3	Cataract, Aniridia	OMIM:617142
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Microphthalmia	ORPHA:363741
2Q24 Microdeletion Syndrome	Cataract, Microphthalmia, Abnormality iris morphology, Coloboma	ORPHA:1617
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Chorioretinal coloboma	OMIM:212550
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Ectopia Lentis Et Pupillae	Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination...	OMIM:225200
Nanophthalmos	Microphthalmia	ORPHA:35612
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,...	ORPHA:137902
Peters Anomaly	Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ...	ORPHA:708
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Optic disc coloboma...	OMIM:120200
Cataract 24	Anterior polar cataract	OMIM:601202
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Anterior Segment Dysgenesis 1	Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula...	OMIM:107250
Microphthalmia, Isolated 8	Microphthalmia, Optic nerve hypoplasia, True anophthalmia, Anophthalmia, Retinal coloboma	OMIM:615113
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris	ORPHA:1067
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria	OMIM:257910
Cataract 16, Multiple Types	Developmental cataract, Posterior polar cataract, Lenticonus	OMIM:613763
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microphthalmia, Buphthalmos, Persistent ...	ORPHA:91495
Cat-Eye Syndrome	Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:195
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Shallow ante...	OMIM:221900
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Microphthalmia With Brain And Digit Anomalies	Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Chorioretinal coloboma, Anophthalmia, Micr...	ORPHA:139471
Vitreoretinochoroidopathy	Developmental cataract, Pulverulent cataract, Microcornea	OMIM:193220
Cataract 6, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:116600
Microphthalmia, Syndromic 5	Cataract, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcornea, Coloboma	OMIM:610125
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Coloboma, Ocular, Autosomal Recessive	Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma	OMIM:216820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Norrie Disease	Cataract, Microphthalmia, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal ...	OMIM:310600
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Cofs Syndrome	Cataract, Microphthalmia	ORPHA:1466
Edict Syndrome	Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea	OMIM:614303
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Microphthalmia, Isolated, With Coloboma 9	Iris coloboma, Microphthalmia, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segme...	OMIM:615145
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma	OMIM:616722
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Amoebic Keratitis	Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta...	ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Nance-Horan Syndrome	Developmental cataract, Posterior Y-sutural cataract, Microcornea	OMIM:302350
Mmep Syndrome	Microphthalmia	ORPHA:3434
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Microphthalmia	OMIM:619694
Bartsocas-Papas Syndrome 2	Microphthalmia, Axillary pterygium, Popliteal pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Temtamy Syndrome	Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:1777
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Oculoauricular Syndrome	Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Retinal coloboma, Phthisis bulbi...	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microphthalmia, Iris transillumination defect, Microcornea, Coloboma	OMIM:617306
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Warburg Micro Syndrome 1	Developmental cataract, Microcornea, Microphthalmia	OMIM:600118
Neurofibromatosis, Type Ii	Cortical cataract, Juvenile posterior subcapsular lenticular opacities	OMIM:101000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Microphthalmia, Coloboma	OMIM:613153
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Otodental Syndrome	Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea	ORPHA:2791
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcornea	ORPHA:1806
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Microphthalmia	ORPHA:290
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Anophthalmia, Microcornea, Coloboma	OMIM:615877
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Astigmatism, Microphthalmia, Corneal opacity, Myopic astigmatism, Microcornea	OMIM:152950
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Temtamy Syndrome	Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Chorioretinal coloboma	OMIM:218340
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos, Coloboma	OMIM:619318
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Iris coloboma, Microphthalmia, Limbal dermoid, Microcornea	ORPHA:1791
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Frontonasal Dysplasia 1	Cataract, Microphthalmia, Coloboma	OMIM:136760
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation, Microphthalmia	ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Microphthalmia, Abnormally large globe, Coloboma	OMIM:615249
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Anterior...	ORPHA:67036
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly, Coloboma	OMIM:618652
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microphthalmia, Coloboma	OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia, Corneal opacity, Colo...	ORPHA:2399
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Keratitis, Corneal neovascu...	OMIM:278730
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Microphthalmia, Coloboma	OMIM:167730
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Iris coloboma, Microphthalmia	ORPHA:77298
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia, Abnormality iris morphology, Colo...	ORPHA:370959
Rothmund-Thomson Syndrome, Type 2	Cataract, Zonular cataract, Microcornea	OMIM:268400
Curry-Jones Syndrome	Optic disc coloboma, Iris coloboma, Microphthalmia	ORPHA:1553
Solitary Median Maxillary Central Incisor	Cyclopia, Anophthalmia, Microphthalmia, Coloboma	OMIM:147250
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity, Microphthalmia	ORPHA:2788
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
3Q29 Microduplication Syndrome	Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Aniridia	ORPHA:251038
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Aniridia 1	Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Corneal erosion, Anterior su...	OMIM:106210
Warburg Micro Syndrome 3	Cataract, Microphthalmia, Shallow anterior chamber, Developmental cataract, Microcornea	OMIM:614222
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Cataract, Phakodonesis, Ectopia lentis, Spontaneous conjunctival filtering bleb, Microphthalmia, ...	OMIM:601552
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microphthalmia	OMIM:614105
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Trisomy 13	Cataract, Iris coloboma, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Astigmatism, Microphthalmia, Chorioretinal coloboma, Peters anomaly	ORPHA:494344
Adams-Oliver Syndrome 2	Developmental cataract, Microphthalmia	OMIM:614219
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Iris coloboma, Microphthalmia, Microcornea	ORPHA:2712
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia	OMIM:214150
Tetraamelia-Multiple Malformations Syndrome	Cataract, Iris coloboma, Septo-optic dysplasia, Microphthalmia, Microcornea	ORPHA:3301
Trichothiodystrophy 3, Photosensitive	Cataract, Developmental cataract, Microphthalmia	OMIM:616395
Warburg Micro Syndrome 2	Cataract, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Microphthalmia, Buphthalmos	OMIM:616538
Kapur-Toriello Syndrome	Iris coloboma, Microphthalmia, Retinal coloboma	ORPHA:2328
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Stromme Syndrome	Cataract, Iris coloboma, Optic nerve hypoplasia, Microphthalmia, Sclerocornea, Microcornea, Peter...	OMIM:243605
Sandestig-Stefanova Syndrome	Developmental cataract, Microphthalmia	OMIM:618804
Congenital Fibrinogen Deficiency	Developmental cataract, Microphthalmia	ORPHA:335
Knobloch Syndrome 1	Cortical cataract, Band keratopathy, Persistent pupillary membrane, Lens subluxation, Development...	OMIM:267750
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Walker-Warburg Syndrome	Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Anophthalmia, Microcornea	ORPHA:899
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Pierson Syndrome	Cataract, Hypoplasia of the ciliary body, Microcoria, Microphthalmia, Hypoplasia of the iris, Pos...	OMIM:609049
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Astigmatism, Retinal coloboma, Microphthalmia	OMIM:618571
Warburg Micro Syndrome 4	Developmental cataract, Microcornea, Microphthalmia	OMIM:615663
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria	ORPHA:2714
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Microphthalmia, Lenz Type	Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Microcornea	ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Astigmatism, Ectopia pupillae, Microphthalmia	OMIM:618727
Kapur-Toriello Syndrome	Cataract, Iris coloboma, Microphthalmia, Retinal coloboma	OMIM:244300
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Baraitser-Winter Syndrome 1	Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:243310
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Refsum Disease	Cataract, Microphthalmia	ORPHA:773
8Q21.11 Microdeletion Syndrome	Cataract, Iris hypopigmentation, Microphthalmia, Sclerocornea, Corneal opacity	ORPHA:284160
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Stevenson-Carey Syndrome	Microphthalmia, Coloboma	OMIM:611961
Micro Syndrome	Cataract, Microcornea, Microphthalmia, Retinal coloboma	ORPHA:2510
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Peters anomaly	OMIM:613150
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Frontorhiny	Cataract, Iris coloboma, Microphthalmia	ORPHA:391474
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia	OMIM:610651
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Trichothiodystrophy 4, Nonphotosensitive	Keratoconjunctivitis sicca, Microcornea, Microphthalmia	OMIM:234050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Anophthalmia, Iris coloboma, Microphthalmia	ORPHA:2250
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Fanconi Anemia, Complementation Group I	Astigmatism, Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Microphthalmia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Peters...	OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Microphthalmia	OMIM:616449
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia, Sclerocornea, Anophthalmia...	OMIM:206900
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Microphthalmia	OMIM:613001
Oculodentodigital Dysplasia, Autosomal Recessive	Persistent pupillary membrane, Cataract, Microcornea, Microphthalmia	OMIM:257850
Papillorenal Syndrome	Cataract, Lens luxation, Microphthalmia, Optic disc coloboma, Retinal coloboma	OMIM:120330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Microphthalmia, Lens subluxation, Corneal opacity, Coloboma	ORPHA:85167
Phace Association	Developmental cataract, Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Acro-Renal-Ocular Syndrome	Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic dis...	ORPHA:959
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Megalocornea, Optic nerve hypoplasia, Buphthalmos, Microphthalmia, Corneal opacity, Pet...	OMIM:236670
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Phace Syndrome	Cataract, Lens coloboma, Iris coloboma, Optic nerve hypoplasia, Microphthalmia, Sclerocornea, Het...	ORPHA:42775
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Microphthalmia	OMIM:614230
Trichothiodystrophy 1, Photosensitive	Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia	OMIM:601675
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Microphthalmia	ORPHA:1352
Martsolf Syndrome 1	Cataract, Developmental cataract, Microphthalmia	OMIM:212720
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Monosomy 18P	Microphthalmia	ORPHA:1598
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Ocular anterior segment dysgenesis	ORPHA:369891
Steinfeld Syndrome	Iris coloboma, Microphthalmia, Retinal coloboma	OMIM:184705
Adams-Oliver Syndrome	Cataract, Microphthalmia	ORPHA:974
Ritscher-Schinzel Syndrome 3	Chorioretinal coloboma, Microphthalmia	OMIM:619135
Joubert Syndrome 14	Microphthalmia, Coloboma	OMIM:614424
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Frontofacionasal Dysplasia	Cataract, Microcornea, Iris coloboma, Microphthalmia	OMIM:229400
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Microphthalmia	OMIM:300952
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Peters anomaly	OMIM:309801
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia	OMIM:153400
Duane-Radial Ray Syndrome	Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Retinal coloboma	OMIM:607323
Moebius Syndrome	Microphthalmia	OMIM:157900
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia	ORPHA:65286
Proboscis Lateralis	Cataract, Cyclopia, Iris coloboma, Optic nerve hypoplasia, Microphthalmia, Chorioretinal coloboma...	ORPHA:141099
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia	OMIM:302960
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma, Retinal coloboma	ORPHA:2839
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Kenny-Caffey Syndrome, Type 2	Developmental cataract, Microphthalmia	OMIM:127000
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Microphthalmia	ORPHA:250989
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Focal Dermal Hypoplasia	Ectopia lentis, Iris coloboma, Microphthalmia, Hypoplasia of the iris, Chorioretinal coloboma, Co...	ORPHA:2092
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Trisomy 18	Cataract, Cyclopia, Iris coloboma, Microphthalmia, Microcornea	ORPHA:3380
Osteoporosis-Pseudoglioma Syndrome	Cataract, Absent anterior chamber of the eye, Microphthalmia, Phthisis bulbi, Iris atrophy	OMIM:259770
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:268249
Atelis Syndrome 2	Developmental cataract, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:620185
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Microphthalmia, Opacification of the corneal stroma	OMIM:251300
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Hallermann-Streiff Syndrome	Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma	OMIM:234100
Linear Nevus Sebaceus Syndrome	Iris coloboma, Microphthalmia	ORPHA:2612
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1236
Monosomy 13Q14	Cataract, Iris coloboma, Microphthalmia	ORPHA:1587
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Jacobsen Syndrome	Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea, Macular hypoplasia	OMIM:147791
2Q31.1 Microdeletion Syndrome	Optic disc coloboma, Iris coloboma, Microphthalmia, Coloboma	ORPHA:251014
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Incontinentia Pigmenti	Cataract, Hypoplasia of the fovea, Keratitis, Microphthalmia	OMIM:308300
Bosma Arhinia Microphthalmia Syndrome	Cataract, Microphthalmia, Coloboma	OMIM:603457
Basel-Vanagaite-Smirin-Yosef Syndrome	Developmental cataract, Microcornea, Microphthalmia	ORPHA:464738
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	OMIM:601707
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Vacterl With Hydrocephalus	Anophthalmia, Microcornea, Microphthalmia	ORPHA:3412
Cat Eye Syndrome	Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:115470
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Microphthalmia, Buphthalmos, Hypoplasia of the retina, Opacification of t...	OMIM:253280
Meckel Syndrome	Cataract, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microcornea	ORPHA:564
Joubert Syndrome 2	Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:608091
Cohen Syndrome	Iris coloboma, Microphthalmia	ORPHA:193
Incontinentia Pigmenti	Cataract, Keratitis, Corneal opacity, Microphthalmia	ORPHA:464
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Microphthalmia	OMIM:601812
Mosaic Trisomy 9	Corneal opacity, Microphthalmia	ORPHA:99776
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Pseudotrisomy 13 Syndrome	Cyclopia, Microphthalmia	OMIM:264480
Basal Cell Nevus Syndrome 1	Cataract, Iris coloboma, Microphthalmia	OMIM:109400
Fryns Syndrome	Corneal opacity, Microphthalmia	ORPHA:2059
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Microphthalmia	ORPHA:364577
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Monosomy 9Q22.3	Cataract, Microphthalmia	ORPHA:77301
Oculodentodigital Dysplasia	Cataract, Microcornea, Microphthalmia	OMIM:164200
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Microphthalmia	OMIM:201180
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ectopia pupillae, Astigmatism, Microphthalmia, Hypoplasia of the iris, Corneal opacity, Developme...	OMIM:175780
Dubowitz Syndrome	Megalocornea, Hypoplasia of the iris, Iris coloboma, Microphthalmia	OMIM:223370
Histiocytoid Cardiomyopathy	Megalocornea, Congenital aphakia, Corneal opacity, Microphthalmia	ORPHA:137675
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Iris coloboma, Microphthalmia	ORPHA:3186
Lowe Oculocerebrorenal Syndrome	Developmental cataract, Corneal scarring, Dense posterior cortical cataract	OMIM:309000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Neuroocular Syndrome	Blue irides, Cataract, Lens coloboma, Brushfield spots, Hypoplasia of the fovea, Iris coloboma, S...	OMIM:619539
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Cockayne Syndrome Type 3	Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Microphthalmia, Microcornea	ORPHA:90324
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Norrie Disease	Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Microphthalmia, ...	ORPHA:649
Holoprosencephaly	Cyclopia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia	ORPHA:2162
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Momo Syndrome	Chorioretinal coloboma, Bilateral microphthalmos	ORPHA:2563
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Microphthalmia	ORPHA:1052
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Retinal coloboma, Coloboma	ORPHA:508498
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Treacher-Collins Syndrome	Cataract, Iris coloboma, Microphthalmia	ORPHA:861
Hallermann-Streiff Syndrome	Developmental cataract, Microphthalmia	ORPHA:2108
Bartsocas-Papas Syndrome 1	Corneal ulceration, Axillary pterygium, Microphthalmia, Popliteal pterygium, Opacification of the...	OMIM:263650
Mend Syndrome	Cataract, Microphthalmia	ORPHA:401973
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental catara...	OMIM:133540
Aicardi Syndrome	Cataract, Microphthalmia, Optic disc coloboma	OMIM:304050
Trichothiodystrophy	Bilateral microphthalmos, Astigmatism, Keratoconjunctivitis sicca, Developmental cataract, Conjun...	ORPHA:33364
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Cockayne Syndrome	Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Band keratopathy, Micropht...	ORPHA:191
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Anophthalmia, Microphthalmia	ORPHA:2526
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly, Coloboma	OMIM:616975
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Microphthalmia	OMIM:620005
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:613884
Microphthalmia, Syndromic 2	Iris coloboma, Microphthalmia, Phthisis bulbi, Developmental cataract, Remnants of the hyaloid va...	OMIM:300166
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Microphthalmia	ORPHA:2166
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe	Cataract, Lentiglobus, Abnormal pupil morphology, Microphthalmia, Buphthalmos, Corneal opacity	ORPHA:534
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Aicardi Syndrome	Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:50
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Sclerocornea, Corneal opacity, Posterior embryotoxon, Anophthalmia	ORPHA:2556
Autosomal Dominant Kenny-Caffey Syndrome	Developmental cataract, Bilateral microphthalmos	ORPHA:93325
Holoprosencephaly 7	Bilateral microphthalmos, Iris coloboma, Microphthalmia	OMIM:610828
Holoprosencephaly 2	Cyclopia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular...	OMIM:157170
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Astigmatism, Cataract, Microphthalmia	ORPHA:84
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Myhre Syndrome	Cataract, Microphthalmia	OMIM:139210
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Renpenning Syndrome 1	Cataract, Microphthalmia, Coloboma	OMIM:309500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
22Q11.2 Deletion Syndrome	Cataract, Posterior embryotoxon, Corneal neovascularization, Microphthalmia	ORPHA:567
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Microphthalmia	OMIM:608670
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Optic disc coloboma, Iris coloboma, Microphthalmia	OMIM:620186
Focal Dermal Hypoplasia	Ectopia lentis, Iris coloboma, Microphthalmia, Aniridia, Chorioretinal coloboma, Anophthalmia	OMIM:305600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Popliteal pterygium, Antecubital pterygium	OMIM:609945
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Yunis-Varon Syndrome	Cataract, Sclerocornea, Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Charge Syndrome	Anophthalmia, Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:138
Mowat-Wilson Syndrome	Cataract, Ectopia pupillae, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea	OMIM:235730
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Meckel Syndrome, Type 1	Iris coloboma, Microphthalmia	OMIM:249000
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Holoprosencephaly 9	Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610829
Microphthalmia, Syndromic 6	Microphthalmia, Sclerocornea, Anophthalmia, Microcornea, Coloboma	OMIM:607932
Neu-Laxova Syndrome 1	Cataract, Pterygium, Microphthalmia	OMIM:256520
Charge Syndrome	Cataract, Iris coloboma, Microphthalmia, Unilateral microphthalmos, Anophthalmia, Retinal colobom...	OMIM:214800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Monosomy 9P	Microphthalmia	ORPHA:261112
Branchiooculofacial Syndrome	Cataract, Iris coloboma, Microphthalmia, Anophthalmia, Retinal coloboma	OMIM:113620
Townes-Brocks Syndrome	Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Limbal dermoid	ORPHA:857
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Iris coloboma, Microphthalmia	OMIM:613406
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Degcags Syndrome	Microphthalmia	OMIM:619488
Holoprosencephaly 1	Cyclopia, Microphthalmia	OMIM:236100
Roberts-Sc Phocomelia Syndrome	Cataract, Microphthalmia, Corneal opacity, Opacification of the corneal stroma, Coloboma	OMIM:268300
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia, Corneal opacity	OMIM:219000
Microphthalmia, Syndromic 1	Ciliary body coloboma, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma...	OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Ectopia pupillae, Iris coloboma, Astigmatism, Abnormal pupil morphology, Microphthalmia...	ORPHA:261552
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Iris coloboma, Astigmatism, Microphthalmia, Axenfeld anomaly, Retinal coloboma	ORPHA:261537
Mowat-Wilson Syndrome	Cataract, Iris coloboma, Astigmatism, Microphthalmia, Axenfeld anomaly, Retinal coloboma	ORPHA:2152
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508488
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Craniofacial Microsomia	Limbal dermoid, Anophthalmia, Microphthalmia	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 Cryga

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 Cryga.

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

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