Gene Summary

Name:
crystallin, gamma E
Synonyms:
Cryg-6

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Cryge 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 36
Cataract OMIM:613887
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 29
Cataract OMIM:115800
Cataract 18
Nuclear cataract OMIM:610019
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
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 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 7
Developmental cataract OMIM:115660
Trichomegaly
Cataract OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
X-Linked Retinoschisis
Cataract ORPHA:792
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Galactosemia Ii
Cataract OMIM:230200
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Galactosemia Iv
Cataract OMIM:618881
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cataract 47
Cataract, Microcornea OMIM:612018
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cahmr Syndrome
Lamellar cataract OMIM:211770
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst OMIM:620086
Nathalie Syndrome
Cataract OMIM:255990
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris co... ORPHA:1473
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Nanophthalmos
Abnormal choroid morphology, Microphthalmia ORPHA:35612
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Facial Spasm
Anisocoria OMIM:134300
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Aniridia 3
Cataract, Aniridia OMIM:617142
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Cataract, Retinal coloboma OMIM:601794
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 49
Posterior cortical cataract OMIM:619593
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Retinitis Pigmentosa 40
Cataract OMIM:613801
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Hypoplasia of the... ORPHA:54
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia ORPHA:1617
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Cortical cataract OMIM:616468
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract 48
Cataract OMIM:618415
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Morm Syndrome
Cataract ORPHA:75858
Coats Disease
Leukocoria OMIM:300216
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu... ORPHA:91495
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Stickler Syndrome, Type V
Cataract OMIM:614284
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Cataract OMIM:620461
Wagner Vitreoretinopathy
Cataract OMIM:143200
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea OMIM:615877
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Alexander Disease
Microcoria OMIM:203450
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma, Mac... OMIM:615145
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract OMIM:618392
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Retinitis Pigmentosa 4
Cataract OMIM:613731
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect OMIM:617306
Achromatopsia 3
Cataract OMIM:262300
Intestinal Dysmotility Syndrome
Cataract OMIM:620045
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Flat cornea, Shallow an... OMIM:602499
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Macular coloboma OMIM:613835
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract OMIM:608885
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Coloboma, Corneal opacity OMIM:613153
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Microphthalmia OMIM:274270
Warburg Micro Syndrome 1
Microcornea, Developmental cataract, Microphthalmia OMIM:600118
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Retinopathy Of Prematurity
Cataract ORPHA:90050
Congenital Rubella Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Chorioretinal lacunae, Corneal opacity, M... OMIM:152950
Stiff Skin Syndrome
Cataract OMIM:184900
Temtamy Syndrome
Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract OMIM:616108
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Humero-Radial Synostosis
Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract OMIM:222765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Abnormally large globe, Microphthalmia OMIM:615249
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Frontonasal Dysplasia 1
Cataract, Coloboma, Microphthalmia OMIM:136760
Mmep Syndrome
Microphthalmia ORPHA:3434
Mevalonic Aciduria
Cataract ORPHA:29
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract OMIM:301075
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract OMIM:132450
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Coloboma, Microphthalmia OMIM:612379
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Senior-Loken Syndrome
Cataract ORPHA:3156
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... ORPHA:2399
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Leukodystrophy, Hypomyelinating, 24
Cataract OMIM:619851
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Infantile Spasms-Broad Thumbs Syndrome
Cataract ORPHA:3173
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Monilethrix
Cataract ORPHA:573
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism ORPHA:250984
Retinitis Pigmentosa 2
Cataract OMIM:312600
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract OMIM:616271
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Autosomal Recessive Spastic Paraplegia Type 26
Cataract ORPHA:101006
Microcephalic Primordial Dwarfism, Toriello Type
Cataract ORPHA:2643
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Microphthalmia, Optic nerve hypopl... ORPHA:370959
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Developmental cataract ORPHA:436174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula... OMIM:101000
Intestinal Botulism
Mydriasis ORPHA:178481
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
X-Linked Intellectual Disability, Najm Type
Cataract, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Joubert Syndrome 22
Coloboma, Microphthalmia OMIM:615665
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract OMIM:615704
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Warburg Micro Syndrome 3
Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber OMIM:614222
Warburg Micro Syndrome 2
Cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:614225
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Microphthalmia, Corneal opacity, Ectopia pupillae ORPHA:85167
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Nevus Comedonicus Syndrome
Cataract ORPHA:64754
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia ORPHA:45358
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma, Microphthalmia OMIM:167730
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract OMIM:612674
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Vitamin K Antagonist Embryofetopathy
Cataract, Aplasia/Hypoplasia affecting the eye ORPHA:1914
Microphthalmia, Syndromic 11