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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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
Nuclear cataract, Zonular 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
Nuclear cataract, Developmental cataract OMIM:115665
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cataract 22, Multiple Types
Nuclear cataract, Developmental 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
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma 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, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 44
Developmental cataract OMIM:616509
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
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
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental 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
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 7
Developmental cataract OMIM:115660
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... 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
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
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
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma 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
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Galactosemia Ii
Cataract OMIM:230200
Cahmr Syndrome
Lamellar cataract OMIM:211770
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia 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
Microphthalmia, Cataract ORPHA:291
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 47
Microcornea, Cataract OMIM:612018
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Cataract 49
Posterior cortical cataract OMIM:619593
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Nathalie Syndrome
Cataract OMIM:255990
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Galactokinase Deficiency
Nuclear cataract, Cataract ORPHA:79237
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract ORPHA:324416
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Gombo Syndrome
Microphthalmia OMIM:233270
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Retinal coloboma OMIM:601794
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Aniridia 3
Aniridia, Cataract OMIM:617142
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:212550
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Pellagra-Like Syndrome
Cataract OMIM:260650
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Nanophthalmos
Microphthalmia ORPHA:35612
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Nuclear cataract, Cataract OMIM:608885
Cataract 24
Anterior polar cataract OMIM:601202
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Mevalonic Aciduria
Nuclear cataract, Cataract OMIM:610377
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... OMIM:221900
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia OMIM:610125
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract OMIM:222765
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Developmental cataract OMIM:193220
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... ORPHA:139471
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Cofs Syndrome
Microphthalmia, Cataract ORPHA:1466
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract OMIM:613730
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
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
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... OMIM:615145
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mmep Syndrome
Microphthalmia ORPHA:3434
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... OMIM:612109
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia OMIM:617306
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract OMIM:616271
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Schwannomatosis, Vestibular
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, 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, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia OMIM:615877
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Frontonasal Dysplasia 1
Microphthalmia, Cataract, Coloboma OMIM:136760
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Coloboma, Abnormally large globe OMIM:615249
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Coloboma, Peters anomaly OMIM:618652
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Coloboma OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... ORPHA:2399
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia, Coloboma OMIM:167730
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Microphthalmia, Megaloco... ORPHA:370959
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Rothmund-Thomson Syndrome, Type 2
Microcornea, Cataract, Zonular cataract OMIM:268400
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
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
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Bresek Syndrome
Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:85284
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Warburg Micro Syndrome 3
Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia OMIM:614222
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma ORPHA:494344
Trisomy 13
Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma ORPHA:2328
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis... OMIM:267750
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Warburg Micro Syndrome 4
Microcornea, Microphthalmia, Developmental cataract OMIM:615663
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hyaloid vascular system... OMIM:609049
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Microphthalmia, Lenz Type
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Kapur-Toriello Syndrome
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma OMIM:244300
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Baraitser-Winter Syndrome 1
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:243310
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Refsum Disease
Microphthalmia, Cataract ORPHA:773
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Micro Syndrome
Microcornea, Microphthalmia, Cataract, Retinal coloboma ORPHA:2510
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract OMIM:610651
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca 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
Microphthalmia, Anophthalmia, Iris coloboma, Cataract ORPHA:2250
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia OMIM:609053
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp... OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract OMIM:616449
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... OMIM:206900
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea OMIM:613001
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Papillorenal Syndrome
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia OMIM:120330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia ORPHA:85167
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... ORPHA:959
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Phace Association
Microphthalmia, Optic nerve hypoplasia, Developmental cataract OMIM:606519
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph... OMIM:236670
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Trichothiodystrophy 1, Photosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract OMIM:601675
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea OMIM:614230
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Martsolf Syndrome 1
Microphthalmia, Cataract, Developmental cataract OMIM:212720
Joubert Syndrome 37
Microphthalmia OMIM:619185
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Monosomy 18P
Microphthalmia ORPHA:1598
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Joubert Syndrome 14
Microphthalmia, Coloboma OMIM:614424
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Moebius Syndrome
Microphthalmia OMIM:157900
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... ORPHA:141099
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Pelvis-Shoulder Dysplasia
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma ORPHA:2839
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:250989
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Unilateral microphthalmos OMIM:618874
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
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
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Trisomy 18
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3380
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Hallermann-Streiff Syndrome
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:234100
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia ORPHA:3412
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Developmental cataract ORPHA:464738
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Jacobsen Syndrome
Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:147791
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma ORPHA:251014
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract OMIM:308300
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract, Coloboma OMIM:603457
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:115470
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M... OMIM:253280
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Meckel Syndrome
Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia ORPHA:564
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:608091
Incontinentia Pigmenti
Keratitis, Microphthalmia, Cataract, Corneal opacity ORPHA:464
Cohen Syndrome
Microphthalmia, Iris coloboma ORPHA:193
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma OMIM:109400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Mosaic Trisomy 9
Microphthalmia, Corneal opacity ORPHA:99776
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Pseudotrisomy 13 Syndrome
Microphthalmia, Cyclopia OMIM:264480
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Fryns Syndrome
Microphthalmia, Corneal opacity ORPHA:2059
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Monosomy 9Q22.3
Microphthalmia, Cataract ORPHA:77301
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Corneal scarring, Developmental cataract OMIM:309000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants... ORPHA:649
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Cockayne Syndrome Type 3
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration ORPHA:90324
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Holoprosencephaly
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma ORPHA:2162
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Coloboma, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:508498
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Treacher-Collins Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:861
Mend Syndrome
Microphthalmia, Cataract ORPHA:401973
Hallermann-Streiff Syndrome
Microphthalmia, Developmental cataract ORPHA:2108
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... OMIM:263650
Trichothiodystrophy
Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm... ORPHA:33364
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Cockayne Syndrome B
Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,... OMIM:133540
Aicardi Syndrome
Microphthalmia, Cataract, Optic disc coloboma OMIM:304050
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Cataract ORPHA:2526
Cockayne Syndrome
Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera... ORPHA:191
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Coloboma, Peters anomaly OMIM:616975
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cataract OMIM:620005
Microphthalmia, Syndromic 2
Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Developmental cataract, Mi... OMIM:300166
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:613884
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia ORPHA:534
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Cyclopia ORPHA:2166
Roberts Syndrome
Microphthalmia, Cataract ORPHA:3103
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Aicardi Syndrome
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma ORPHA:50
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Developmental cataract ORPHA:93325
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon ORPHA:2556
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract ORPHA:84
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Myhre Syndrome
Microphthalmia, Cataract OMIM:139210
Renpenning Syndrome 1
Microphthalmia, Cataract, Coloboma OMIM:309500
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
22Q11.2 Deletion Syndrome
Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization ORPHA:567
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:620186
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Antecubital pterygium OMIM:609945
Fryns Syndrome
Microphthalmia, Opacification of the corneal stroma OMIM:229850
Focal Dermal Hypoplasia
Anophthalmia, Ectopia lentis, Chorioretinal coloboma, Aniridia, Microphthalmia, Iris coloboma OMIM:305600
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:235730
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract ORPHA:3472
Charge Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:138
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Meckel Syndrome, Type 1
Microphthalmia, Iris coloboma OMIM:249000
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Fraser Syndrome 2
Microphthalmia OMIM:617666
Microphthalmia, Syndromic 6
Anophthalmia, Sclerocornea, Microcornea, Coloboma, Microphthalmia OMIM:607932
Charge Syndrome
Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir... OMIM:214800
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Cataract OMIM:256520
Holoprosencephaly 1
Microphthalmia, Cyclopia OMIM:236100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Monosomy 9P
Microphthalmia ORPHA:261112
Branchiooculofacial Syndrome
Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:113620
Townes-Brocks Syndrome
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:857
Witteveen-Kolk Syndrome
Anisocoria, Microphthalmia, Cataract, Iris coloboma OMIM:613406
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Degcags Syndrome
Microphthalmia OMIM:619488
Fraser Syndrome 1
Anophthalmia, Corneal opacity, Bilateral microphthalmos OMIM:219000
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia OMIM:268300
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Microphthalmia, Syndromic 1
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Re... ORPHA:261552
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma ORPHA:261537
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Mowat-Wilson Syndrome
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma ORPHA:2152
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

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
Crygatm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crygatm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter