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
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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
Eye  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
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)
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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 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)
Thymus N/A heterozygote 0.0% (0 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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
Iris coloboma, Corneal opacity, Cataract, Microcornea, 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
Developmental cataract, Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
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 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Cataract 44
Developmental cataract OMIM:616509
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Aniridia 3
Cataract OMIM:617142
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Cataract 40
Sutural cataract, Nuclear 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
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Trichomegaly
Cataract OMIM:190330
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 7
Developmental cataract OMIM:115660
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
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 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Galactosemia Iv
Cataract OMIM:618881
Nathalie Syndrome
Cataract ORPHA:2663
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Cataract 42
Developmental cataract OMIM:115900
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Retinoschisis
Cataract ORPHA:792
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Galactosemia Ii
Cataract OMIM:230200
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia, Coloboma OMIM:120433
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea, Coloboma OMIM:613703
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
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
Microphthalmia, Anophthalmia ORPHA:85275
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Cataract 47
Cataract, Microcornea OMIM:612018
Aniridia 2
Cataract, Aniridia OMIM:617141
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:212550
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Proximal Myotonic Myopathy
Cataract ORPHA:606
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Cataract 43
Subcapsular cataract OMIM:616279
Cahmr Syndrome
Lamellar cataract OMIM:211770
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Nathalie Syndrome
Cataract OMIM:255990
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia OMIM:610023
Nanophthalmos 4
Microphthalmia OMIM:615972
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Coloboma ORPHA:324416
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Dermoids Of Cornea
Corneal opacity OMIM:304730
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina OMIM:263100
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Nanophthalmos
Abnormal choroid morphology, Microphthalmia ORPHA:35612
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia OMIM:601794
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Facial Spasm
Anisocoria OMIM:134300
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Alg8-Cdg
Cataract ORPHA:79325
Anisocoria
Anisocoria OMIM:106240
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Microphthalmia ORPHA:363741
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Astigmatism, Abnormal pupil morphology, Hypoplasia of the... ORPHA:54
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Pellagra-Like Syndrome
Cataract OMIM:260650
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Coloboma OMIM:300915
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Gombo Syndrome
Microphthalmia OMIM:233270
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia, Coloboma ORPHA:1617
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Retinitis Pigmentosa 4
Cataract OMIM:613731
Coats Disease
Leukocoria OMIM:300216
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Peters anomaly,... OMIM:120200
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Cataract 24
Anterior polar cataract OMIM:601202
Retinitis Pigmentosa 2
Cataract OMIM:312600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Iris transillumination defect OMIM:619165
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Retinitis Pigmentosa 37
Cataract OMIM:611131
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 9
Cataract OMIM:180104
Microphthalmia, Syndromic 5
Coloboma, Cataract, Microcornea, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anoph... ORPHA:139471
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia, Coloboma OMIM:615113
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Wagner Vitreoretinopathy
Cataract OMIM:143200
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia, Coloboma OMIM:613153
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:615145
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Achromatopsia 3
Cataract OMIM:262300
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract OMIM:617404
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Microcornea OMIM:615458
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract OMIM:616154
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Myopathy, Myofibrillar, 2
Cataract OMIM:608810
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Hemochromatosis, Type 4
Cataract OMIM:606069
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyper... ORPHA:2399
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Retinopathy, Pigmentary, And Mental Retardation
Cataract OMIM:268050
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract ORPHA:3433
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract ORPHA:329314
Nance-Horan Syndrome
Developmental cataract, Microcornea, Microphthalmia, Posterior Y-sutural cataract OMIM:302350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract ORPHA:35737
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Corneal opacity, Cataract, Microcornea, Microphth... OMIM:152950
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Stiff Skin Syndrome
Cataract OMIM:184900
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cataract OMIM:609313
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Frontonasal Dysplasia 1
Cataract, Microphthalmia, Coloboma OMIM:136760
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe, Coloboma OMIM:615249
Humero-Radial Synostosis
Chorioretinal coloboma, Aplasia/Hypoplasia affecting the eye, Iris coloboma ORPHA:3265
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Microphthalmia, Limbal dermoid ORPHA:1791
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract OMIM:132450
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Microphthalmia OMIM:193220
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Mevalonic Aciduria
Cataract ORPHA:29
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract OMIM:615704
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Flynn-Aird Syndrome
Cataract OMIM:136300
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Kniest Dysplasia
Lens luxation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:485
Lissencephaly 8
Cataract OMIM:617255
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corneal neovascu... OMIM:278730
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Senior-Loken Syndrome
Cataract ORPHA:3156
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract OMIM:614872
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Linear Verrucous Nevus Syndrome
Cataract, Aplasia/Hypoplasia of the fovea, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Spastic Paraplegia 5A, Autosomal Recessive
Cataract OMIM:270800
Combined Oxidative Phosphorylation Deficiency 13
Cataract OMIM:614932
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly, Microphthalmia OMIM:613150
Infantile Spasms-Broad Thumbs Syndrome
Cataract ORPHA:3173
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cataract OMIM:224050
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Weill-Marchesani Syndrome 1
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:277600
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Neurofibromatosis, Type Ii
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Monilethrix
Cataract ORPHA:573
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea, Microphthalmia OMIM:257850
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Cataract, Microcornea, Microphthalmia OMIM:614222
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Coloboma OMIM:618652
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism ORPHA:250984
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Lissencephaly 5
Cataract OMIM:615191
Papillorenal Syndrome
Lens luxation, Cataract, Microphthalmia, Retinal coloboma OMIM:120330
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Intestinal Botulism
Mydriasis ORPHA:178481
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Microcephalic Primordial Dwarfism, Toriello Type
Cataract ORPHA:2643
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Coloboma OMIM:617306
Duane Retraction Syndrome
Aniridia, Central heterochromia, Chorioretinal coloboma, Optic disc hypoplasia, Iris coloboma, Mi... ORPHA:233
Autosomal Recessive Spastic Paraplegia Type 26
Cataract ORPHA:101006
Baralle-Macken Syndrome
Cataract OMIM:619255
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Lens luxation, Ectopia lentis, Microspherophakia, Iridodonesis, Catarac... OMIM:608328
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Coloboma, Unilateral microphthalmos OMIM:619318
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Microcephaly 10, Primary, Autosomal Recessive
Cataract OMIM:615095
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Nevus Comedonicus Syndrome
Cataract ORPHA:64754
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Coloboma, Cataract, Megalocornea, Optic nerve hypoplasia, Microphtha... ORPHA:370959
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia ORPHA:163937
Bresek Syndrome
Iris coloboma, Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Microphthalmia, Absent anterior chamber of the eye, Phthisis bulbi OMIM:259770
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Microcornea, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Developmental cataract ORPHA:436174
Iatrogenic Botulism
Mydriasis ORPHA:254509