Not currently registered for phenotyping at IMPC

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

Gene Summary

crystallin, gamma A
Secc,  DGcry-4,  Cryg-4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
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
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
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
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
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
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
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
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
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


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.