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Gene: Gja8 MGI:99953

Gene Summary

Name:

gap junction protein, alpha 8

Synonyms:

alpha 8 connexin, connexin 50, dcm, Lop10, Cnx50, Cx50, Aey5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Gja8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.79×10^-14
increased kidney weight	Gja8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.05×10^-13
increased circulating amylase level	Gja8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.20×10^-11

Download data as: TSV XLS

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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
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	0.0% (0 of 4)
Brain	N/A	heterozygote	0.0% (0 of 4)
Brainstem	N/A	heterozygote	0.0% (0 of 4)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 4)
Cerebellum	N/A	heterozygote	0.0% (0 of 4)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	100% (4 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Heart	N/A	heterozygote	0.0% (0 of 4)
Hippocampus	N/A	heterozygote	0.0% (0 of 4)
Hypothalamus	N/A	heterozygote	0.0% (0 of 4)
Kidney	N/A	heterozygote	0.0% (0 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 4)
Oral epithelium	N/A	heterozygote	0.0% (0 of 4)
Ovary	N/A	heterozygote	0.0% (0 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	0.0% (0 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spinal cord	N/A	heterozygote	0.0% (0 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Striatum	N/A	heterozygote	0.0% (0 of 4)
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Trachea	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
Vascular system	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 3)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	0.0% (0 of 3)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (3 of 3)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (3 of 3)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 3)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 3)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 3)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 3)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (3 of 3)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 3)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 3)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 3)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 3)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 3)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 3)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 3)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 3)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	66.67% (2 of 3)

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%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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

8 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Echo

M-Mode Images

20 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images

Adult LacZ

LacZ Images Wholemount

3 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Gja8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gja8 (2 diseases)
Human diseases predicted to be associated with Gja8 (995 diseases)

The table below shows human diseases associated to Gja8 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 1, Multiple Types		Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract-Microcornea Syndrome		Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377

The table below shows human diseases predicted to be associated to Gja8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
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
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
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/Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
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
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
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
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Cataract 7	Developmental cataract	OMIM:115660
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Trichomegaly	Cataract	OMIM:190330
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
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
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit...	OMIM:610202
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Nathalie Syndrome	Cataract	ORPHA:2663
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Bardet-Biedl Syndrome 18	Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Large for gestational age, Corneal opacity	ORPHA:2432
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:611638
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Foveal Hypoplasia 2	Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th...	OMIM:609218
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Obesity, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Obesity, Rod-cone dystrophy, Microphthalmia	ORPHA:363741
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ...	ORPHA:2843
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Microphthalmia, Aplasia/Hypoplasia affecting ...	ORPHA:83461
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma	OMIM:610023
Galactosemia Ii	Cataract	OMIM:230200
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Cataract 47	Cataract, Microcornea	OMIM:612018
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Galactosemia Iv	Cataract	OMIM:618881
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht...	OMIM:212550
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Microphthalmia, Isolated 6	Retinal fold, Microcornea, Microphthalmia	OMIM:613517
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Facial Clefting, Oblique, 1	Coloboma, Microphthalmia	OMIM:600251
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Morm Syndrome	Cataract, Retinal atrophy, Truncal obesity, Retinal dystrophy	ORPHA:75858
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys...	ORPHA:324416
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Retinal Dystrophy And Obesity	Obesity, Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, ...	OMIM:616188
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Idiopathic Uveal Effusion Syndrome	Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph...	ORPHA:209956
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ...	OMIM:251270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante...	OMIM:267760
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Failure to thrive, Coloboma, Microphthalmia, Small for ges...	ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy	OMIM:610156
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst...	OMIM:217800
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret...	ORPHA:179
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Nathalie Syndrome	Cataract	OMIM:255990
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
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
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph...	ORPHA:39044
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Senior-Loken Syndrome 7	Nephronophthisis, Retinal degeneration	OMIM:613615
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa...	OMIM:616171
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Gombo Syndrome	Microphthalmia	OMIM:233270
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Cataract 49	Posterior cortical cataract	OMIM:619593
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Aniridia 3	Cataract, Aniridia	OMIM:617142
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract	ORPHA:2119
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme...	OMIM:613310
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Biemond Syndrome Type 2	Coloboma, Microphthalmia	ORPHA:141333
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Microphthalmia/Coloboma 9	Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea...	OMIM:615145
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c...	ORPHA:139471
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Failure to thrive	ORPHA:2278
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma...	OMIM:602499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea	OMIM:615877
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Retinal dystrophy, Optic nerve hyp...	OMIM:610125
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cat-Eye Syndrome	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:195
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy	OMIM:615147
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea	OMIM:617272
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Nanophthalmos 4	Microphthalmia	OMIM:615972
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia	ORPHA:2714
Microphthalmia, Isolated 8	Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:615113
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Retinal thinning, Macular atrophy, Abnormality of retinal pigmentation, Cone/co...	ORPHA:85167
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Small for gestational age	ORPHA:85288
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Weight lo...	ORPHA:3163
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Otodental Syndrome	Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1466
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Microphthalmia	OMIM:274270
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 48	Cataract	OMIM:618415
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Decreased body weight, Coloboma, Microphthalmia, Iris transillumination de...	OMIM:617306
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment, Microphthalmia	ORPHA:627
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Facial Spasm	Anisocoria	OMIM:134300
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Bardet-Biedl Syndrome 11	Obesity, Retinopathy	OMIM:615988
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Retinal detachment, Microphthalmia	OMIM:615181
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Alexander Disease	Microcoria	OMIM:203450
Bardet-Biedl Syndrome 9	Cataract, Obesity, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone ...	OMIM:615986
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor, Microphthalmia	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Coloboma, Retinal detachment, Corneal opacity, Microphthalmia	OMIM:613153
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal...	OMIM:619902
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	OMIM:219250
Morquio Syndrome C	Corneal opacity	OMIM:252300
Temtamy Syndrome	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Bardet-Biedl Syndrome 14	Obesity, Rod-cone dystrophy	OMIM:615991
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Bardet-Biedl Syndrome 10	Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:615987
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia	OMIM:161200
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid	ORPHA:2969
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Small for gestational age, Decreased body weight	OMIM:618392
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac...	OMIM:608940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Developmental cataract, Microphthalmia	OMIM:613155
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration	OMIM:614844
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Warburg Micro Syndrome 1	Optic atrophy, Microcornea, Failure to thrive, Developmental cataract, Microphthalmia	OMIM:600118
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis, Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Wagr Syndrome	Cataract, Obesity, Aplasia/Hypoplasia of the iris	ORPHA:893
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Intestinal Dysmotility Syndrome	Cataract, Weight loss, Failure to thrive	OMIM:620045
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:129600
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation	ORPHA:1259
Galactose Epimerase Deficiency	Cataract, Weight loss	ORPHA:79238
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Lissencephaly 8	Cataract, Optic atrophy, Microphthalmia	OMIM:617255
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Congenital Rubella Syndrome	Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, M...	ORPHA:290
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Failure to thrive, Coloboma, Microphthalmia	OMIM:612379
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Cataract, Microphthalmia	OMIM:618805
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Developmental cataract, Microphthalmia	OMIM:610756
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opac...	ORPHA:2788
Bardet-Biedl Syndrome 21	Retinal thinning, Obesity, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplas...	OMIM:617406
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Obesity, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Retinal degeneration, Coloboma, Microphthalmia	OMIM:615249
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive	ORPHA:67048
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma	ORPHA:2611
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Bardet-Biedl Syndrome 5	Obesity, Macular dystrophy, Rod-cone dystrophy	OMIM:615983
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Chromosome Xq21 Deletion Syndrome	Obesity, Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia	OMIM:303110
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Joubert Syndrome 22	Coloboma, Microphthalmia	OMIM:615665
Walker-Warburg Syndrome	Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Chorioretina...	ORPHA:899
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Galactose Mutarotase Deficiency	Cataract, Failure to thrive	ORPHA:570422
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal...	ORPHA:414
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Microphthalmia	OMIM:619694
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic atrophy, Abnormality iris morphology, Megalocornea, Coloboma, Retinal detachment,...	ORPHA:370959
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupi...	ORPHA:649
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
3Q29 Microduplication Syndrome	Cataract, Aniridia, Obesity, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Temtamy Syndrome	Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation	OMIM:218340
Laurence-Moon Syndrome	Cataract, Obesity, Iris coloboma	ORPHA:2377
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Martsolf Syndrome 2	Cataract, Developmental cataract, Decreased body weight	OMIM:619420
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Asteroid hyalosis, Retinal thinning	OMIM:132450
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma	ORPHA:1791
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Mmep Syndrome	Microphthalmia	ORPHA:3434
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Coloboma, Bilateral microphthalmos	OMIM:619318
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Autosomal Recessive Stickler Syndrome	Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism	ORPHA:250984
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Failure to thrive, Microphthalmia, Persistent pupillary membrane	OMIM:257850
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Failure to thrive, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Failure to thrive, Microphthalmia	OMIM:301108
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Failure to thrive, Retinal coloboma	ORPHA:2328
Neurooculocardiogenitourinary Syndrome	Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Kniest Dysplasia	Aplasia/Hypoplasia of the lens, Cataract, Lens luxation	ORPHA:485
Pierpont Syndrome	Microcornea, Small for gestational age, Microphthalmia	ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia, Microphthalmia	OMIM:614830
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy	ORPHA:1806
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Achromatopsia 3	Cataract	OMIM:262300
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy, Failure to thrive	ORPHA:52
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Pierpont Syndrome	Microphthalmia, Microcornea, Failure to thrive, Decreased body weight	OMIM:602342
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Curry-Jones Syndrome	Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:1553
Frontonasal Dysplasia 1	Cataract, Coloboma, Microphthalmia	OMIM:136760
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity, Hyperopic astigmatism	OMIM:606772
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Obesity	ORPHA:177910
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Renal cortical ...	OMIM:613824
Baralle-Macken Syndrome	Cataract, Obesity	OMIM:619255
Duane Retraction Syndrome	Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia, Aniridia, Abno...	ORPHA:233
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Microphthalmia	OMIM:615771
Srd5A3-Cdg	Cataract, Optic atrophy, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy	ORPHA:324737
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Ectopia lentis, Retinal detachment, Microphthalmia, Iris coloboma	ORPHA:2712
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha...	ORPHA:2399
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Paternal Uniparental Disomy Of Chromosome 1	Abnormal retinal morphology on macular OCT, Proteinuria, Increased blood urea nitrogen, Membranop...	ORPHA:251004
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar...	OMIM:175780
Abruzzo-Erickson Syndrome	Coloboma	OMIM:302905
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Bardet-Biedl Syndrome 22	Macular hypopigmentation, Obesity, Large for gestational age, Rod-cone dystrophy	OMIM:617119
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Iris coloboma, Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Congenital Fibrosis Of Extraocular Muscles	Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia	ORPHA:45358
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Joubert Syndrome 9	Cataract, Astigmatism, Retinal dystrophy	OMIM:612285
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis	OMIM:180200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Baraitser-Winter Syndrome 2	Coloboma, Microphthalmia	OMIM:614583
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Solitary Median Maxillary Central Incisor	Cyclopia, Coloboma, Anophthalmia, Microphthalmia	OMIM:147250
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Microphthalmia, Sclerocornea,...	OMIM:243605
Stiff Skin Syndrome	Cataract	OMIM:184900
Stickler Syndrome Type 1	Cataract, Abnormal vitreous humor morphology, Retinal detachment	ORPHA:90653
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Peters anomaly, Chorioretinal coloboma, Astigmatism, Microphthalmia, Iris coloboma	ORPHA:494344
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Bresek Syndrome	Optic nerve hypoplasia, Iris coloboma, Microphthalmia	ORPHA:85284
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Coloboma, Microphthalmia	OMIM:167730
Trisomy 13	Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular ...	ORPHA:3378
Achondrogenesis Type 2	Lens subluxation, Cataract, Abnormal vitreous humor morphology, Retinal detachment	ORPHA:93296
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Optic disc pallor	ORPHA:3173
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Optic atrophy, Obesity, Attenuation of retinal blood...	ORPHA:791
Pseudopseudohypoparathyroidism	Cataract, Obesity	OMIM:612463
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract	OMIM:612674
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Laurence-Moon Syndrome	Obesity, Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Intestinal Botulism	Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria	OMIM:231550
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Obesity	OMIM:194072
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir...	OMIM:608836
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Papillorenal Syndrome	Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho...	OMIM:120330
Micro Syndrome	Cataract, Microcornea, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Micr...	ORPHA:2510
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia	OMIM:616538
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retinal pigmen...	ORPHA:790
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Bardet-Biedl Syndrome 4	Obesity, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur...	OMIM:232200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Retinal detachment, Hypopigmentation of the fundus, Microphthalmia	ORPHA:163649
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Warburg Micro Syndrome 3	Cataract, Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior ch...	OMIM:614222
Baraitser-Winter Syndrome 1	Iris coloboma, Failure to thrive, Chorioretinal coloboma, Microphthalmia	OMIM:243310
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Failure to thrive, Overgrowth, Retinal detachment, Retinal telangiectasia, Optic nerve ...	OMIM:620157
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Microphthalmia	OMIM:614105
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma, Retinal coloboma	OMIM:244300
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Chorioretinal hypopigmentation, O...	OMIM:617303
Warburg Micro Syndrome 2	Cataract, Microcornea, Optic atrophy, Developmental cataract, Microphthalmia	OMIM:614225
Adams-Oliver Syndrome 2	Optic atrophy, Developmental cataract, Microphthalmia	OMIM:614219
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Refsum Disease	Cataract, Abnormality of retinal pigmentation, Retinopathy, Microphthalmia	ORPHA:773
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc...	ORPHA:863
Stickler Syndrome, Type Iv	Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ...	OMIM:614134
Miller Fisher Syndrome	Mydriasis, Anisocoria	ORPHA:98919
Phace Syndrome	Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic...	ORPHA:42775
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Disproportionate tall statu...	OMIM:229200
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Gracile Bone Dysplasia	Aniridia, Failure to thrive, Microphthalmia	OMIM:602361
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Cataract, Astigmatism, Retinal coloboma	OMIM:618571
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Microphthalmia, Lenz Type	Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Revesz Syndrome	Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Microphthalmia	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Optic atrophy, Peters anomaly, Megalocornea, Retinal atrophy, Coloboma, Retinal detachm...	OMIM:236670
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Obesity	ORPHA:411515
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Cerebrooculofacioskeletal Syndrome 1	Cataract, Small for gestational age, Failure to thrive, Microphthalmia	OMIM:214150
Congenital Toxoplasmosis	Failure to thrive in infancy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:858
Trichothiodystrophy 3, Photosensitive	Cataract, Failure to thrive, Developmental cataract, Microphthalmia	OMIM:616395
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of...	OMIM:613464
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Microphtha...	OMIM:614643
Stickler Syndrome, Type Ii	Cataract, Abnormal vitreous humor morphology, Retinal detachment	OMIM:604841
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Sandestig-Stefanova Syndrome	Small for gestational age, Developmental cataract, Microphthalmia	OMIM:618804
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Kenny-Caffey Syndrome, Type 2	Papilledema, Developmental cataract, Microphthalmia, Retinal calcification, Small for gestational...	OMIM:127000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity, Hyperopic astigmatism	ORPHA:397973
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Wound Botulism	Mydriasis	ORPHA:178475
Warburg Micro Syndrome 4	Optic atrophy, Microcornea, Developmental cataract, Microphthalmia	OMIM:615663
Infantile Refsum Disease	Cataract, Optic atrophy, Failure to thrive, Rod-cone dystrophy	ORPHA:772
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Vogt-Koyanagi-Harada Disease	Cataract, Retinal detachment	ORPHA:3437
Monilethrix	Cataract	ORPHA:573
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom...	OMIM:232220
Bardet-Biedl Syndrome 2	Obesity, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:277600
Inhalational Botulism	Mydriasis	ORPHA:254504
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Charcot-Marie-Tooth Disease Type 4C	Abnormal optic nerve morphology, Optic atrophy, Anisocoria, Failure to thrive	ORPHA:99949
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Zonular cataract, Microphthalmia	OMIM:268400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Peroxisome Biogenesis Disorder 9B	Cataract, Rod-cone dystrophy	OMIM:614879
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea	ORPHA:137675
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Wagro Syndrome	Cataract, Aniridia, Obesity, Corneal opacity	OMIM:612469
Congenital Fibrinogen Deficiency	Developmental cataract, Microphthalmia	ORPHA:335
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Corneal opacity, Microphthalmia, Sclerocornea	ORPHA:284160
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Retinopathy, Microphthalmia	ORPHA:2505
Stevenson-Carey Syndrome	Coloboma, Microphthalmia	OMIM:611961
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:234050
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos, Retinal dystrophy	ORPHA:370997
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Congenital Tufting Enteropathy	Cataract, Failure to thrive, Optic disc coloboma, Punctate keratitis, Weight loss, Corneal erosion	ORPHA:92050
Joubert Syndrome 23	Coloboma	OMIM:616490
Botulism	Mydriasis	ORPHA:1267
Frontorhiny	Cataract, Iris coloboma, Microphthalmia	ORPHA:391474
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Iris transillumination de...	OMIM:249310
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Phace Association	Optic atrophy, Increased retinal vascularity, Developmental cataract, Microphthalmia, Optic nerve...	OMIM:606519
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,...	OMIM:608328
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Otodental Dysplasia	Coloboma	OMIM:166750
Rabin-Pappas Syndrome	Cataract, Failure to thrive in infancy, Obesity, Overgrowth, Retinal detachment, Retinal telangie...	OMIM:620155
Foodborne Botulism	Mydriasis	ORPHA:228371
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Failure to thrive, Anterior chamber synechiae, Uveitis	ORPHA:85410
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr...	OMIM:107320
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Failure to thrive, Abnormal pupil morphology, Corneal opacity, Chorioretin...	ORPHA:534
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Astigmatism, Decreased body weight	OMIM:609053
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Obesity	OMIM:615418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at...	OMIM:253280
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Tall stature, Large for gestational age, Overgrowth, Aplasia/Hypoplasia of the optic nerve, Optic...	ORPHA:137634
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Colobo...	ORPHA:959
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2250
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Overgrowth, Microphthalmia	OMIM:602501
Osteoporosis-Pseudoglioma Syndrome	Cataract, Vitreoretinopathy, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Ex...	OMIM:259770
Cohen Syndrome	Optic atrophy, Failure to thrive in infancy, Obesity, Abnormality of retinal pigmentation, Chorio...	ORPHA:193
Bardet-Biedl Syndrome 3	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma	OMIM:184705
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	ORPHA:1556
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Limbal dermoid, Microphthalmia, Hypoplasia of the iris	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Cataract, Retinal detachment, Microphthalmia, Retinal dysplasia	OMIM:253800
Infant Botulism	Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Dystonia-Deafness Syndrome 1	Cataract, Small for gestational age	OMIM:607371
Bardet-Biedl Syndrome 8	Obesity, Rod-cone dystrophy	OMIM:615985
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Cataract, Keratitis	OMIM:612843
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ...	OMIM:206900
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract, Pigmentary retinopathy, Microphthalmia	OMIM:614230
Carpenter Syndrome	Obesity, Abnormal cornea morphology	ORPHA:65759
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma, Failure to thrive	OMIM:618874
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Amyloidosis, Finnish Type	Cataract, Optic neuropathy, Lattice corneal dystrophy	OMIM:105120
Joubert Syndrome 16	Coloboma	OMIM:614465
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Anisocoria	OMIM:618653
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Obesity, Overweight	OMIM:614651
Frontofacionasal Dysplasia	Cataract, Microcornea, Iris coloboma, Microphthalmia	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microphthalmia	OMIM:300887
Donnai-Barrow Syndrome	Cataract, Hypoplasia of the iris, Retinal detachment, Iris coloboma, Retinal dystrophy	OMIM:222448
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla...	ORPHA:449395
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Failure to thrive, Microphthalmia	OMIM:300952
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary g...	ORPHA:505248
Incontinentia Pigmenti	Cataract, Optic atrophy, Keratitis, Hypoplasia of the fovea, Retinal vascular proliferation, Reti...	OMIM:308300
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Failure to thrive	OMIM:615085
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction	OMIM:613834
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Wilson Disease	Increased body weight, Weight loss, Failure to thrive, Kayser-Fleischer ring	ORPHA:905
Scalp-Ear-Nipple Syndrome	Cataract, Anisocoria, Iris coloboma, Developmental cataract	OMIM:181270
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Pelvis-Shoulder Dysplasia	Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Small for gestational age	OMIM:601675
Monosomy 9Q22.3	Cataract, Tall stature, Large for gestational age, Retinopathy, Microphthalmia	ORPHA:77301
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Punctate cataract	OMIM:607812
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Failure to thrive, Microphthalmia	ORPHA:250989
Trisomy 18	Cataract, Microcornea, Abnormality of retinal pigmentation, Cachexia, Microphthalmia, Cyclopia, I...	ORPHA:3380
Momo Syndrome	Chorioretinal coloboma, Bilateral microphthalmos, Tall stature, Obesity, Large for gestational ag...	ORPHA:2563
Bardet-Biedl Syndrome 1	Cataract, Obesity, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Ast...	OMIM:209900
Monosomy 13Q14	Cataract, Iris coloboma, Retinoblastoma, Microphthalmia	ORPHA:1587
Jacobsen Syndrome	Optic atrophy, Microcornea, Failure to thrive, Chorioretinal coloboma, Macular hypoplasia, Microp...	OMIM:147791
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna...	OMIM:619539
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia	ORPHA:35173
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Coach Syndrome 2	Coloboma, Chorioretinal coloboma	OMIM:619111
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Microphthalmia	OMIM:616449
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy, Iris atrophy	OMIM:201180
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Subaortic Stenosis-Short Stature Syndrome	Obesity, Microphthalmia	ORPHA:3191
Incontinentia Pigmenti	Cataract, Keratitis, Retinal hemorrhage, Retinal vascular proliferation, Retinal detachment, Corn...	ORPHA:464
Proboscis Lateralis	Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Corneal opacity...	ORPHA:141099
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly...	OMIM:208540
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinopathy, Abnormality ...	ORPHA:2526
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypoplasia of the iris, Microphthalmia, Opacification of the corneal str...	OMIM:251300
3Q29 Microdeletion Syndrome	Cataract, Failure to thrive, Microphthalmia	ORPHA:65286
Senior-Loken Syndrome 9	Obesity, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Mycophenolate Mofetil Embryopathy	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:268249
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Ritscher-Schinzel Syndrome 3	Chorioretinal coloboma, Microphthalmia	OMIM:619135
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Optic nerve compression, Phthisis bulbi, Optic neuropathy	OMIM:619727
Adams-Oliver Syndrome	Cataract, Failure to thrive, Microphthalmia	ORPHA:974
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Serotonin Syndrome	Mydriasis	ORPHA:43116
Mowat-Wilson Syndrome	Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Microphthalmia, Iris coloboma	OMIM:235730
Joubert Syndrome 37	Obesity, Microphthalmia	OMIM:619185
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Linear Nevus Sebaceus Syndrome	Iris coloboma, Microphthalmia	ORPHA:2612
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria	ORPHA:79138
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Astigmatism	OMIM:619769
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Meckel Syndrome	Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmi...	ORPHA:564
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Ocular albinism	ORPHA:2720
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Lenticonus, Failure to thrive	OMIM:308940
Hallermann-Streiff Syndrome	Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Small for g...	OMIM:234100
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity, Astigmatism, Optic nerve dysplasia	OMIM:617296
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Focal Dermal Hypoplasia	Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Corneal opacity, Microphthalmia, ...	ORPHA:2092
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Obesity, Astigmatism, Papilledema, Rod-cone dystrophy	OMIM:619471
Vacterl With Hydrocephalus	Microcornea, Abnormal optic nerve morphology, Anophthalmia, Microphthalmia	ORPHA:3412
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Failure to thrive, Microphthalmia	OMIM:302960
Superficial Siderosis	Anisocoria	ORPHA:247245
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Pseudohypoparathyroidism, Type Ic	Cataract, Obesity	OMIM:612462
Marfan Syndrome	Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t...	OMIM:154700
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
H Syndrome	Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney	ORPHA:168569
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia	OMIM:153400
Joubert Syndrome 14	Coloboma, Microphthalmia	OMIM:614424
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system	ORPHA:637
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Retinal degeneration, Retinal atrophy, Keratoconjunctivitis s...	ORPHA:90324
Bardet-Biedl Syndrome 17	Obesity, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, ...	OMIM:615994
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho...	ORPHA:1571
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Ocular anterior segment dysgenesis	ORPHA:369891
Martsolf Syndrome 1	Cataract, Developmental cataract, Microphthalmia	OMIM:212720
Bardet-Biedl Syndrome 6	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,...	ORPHA:79259
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1236
Joubert Syndrome 2	Failure to thrive, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy	OMIM:608091
Cat Eye Syndrome	Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:115470
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Mydriasis, Optic atrophy	OMIM:259720
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Branchio-Oculo-Facial Syndrome	Cataract, Microcornea, Coloboma, Iris coloboma	ORPHA:1297
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Bosma Arhinia Microphthalmia Syndrome	Cataract, Coloboma, Microphthalmia	OMIM:603457
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Blau Syndrome	Cataract, Nongranulomatous uveitis, Band keratopathy, Cystoid macular edema, Iritis, Uveitis	OMIM:186580
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Corneal stromal edema, Hypermyelinated retinal nerve fibers, Corneal opacity, ...	OMIM:601812
Cockayne Syndrome	Lentiglobus, Cataract, Pigmentary retinopathy, Band keratopathy, Abnormal cornea morphology, Reti...	ORPHA:191
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Microphthalmia, Anophthalmia, Abnormality of retinal pigmentation, Abnormal vi...	ORPHA:2556
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	OMIM:601707
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
2Q31.1 Microdeletion Syndrome	Coloboma, Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:251014
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Witteveen-Kolk Syndrome	Cataract, Obesity, Microphthalmia, Anisocoria, Iris coloboma, Small for gestational age	OMIM:613406
Cockayne Syndrome B	Optic atrophy, Microcornea, Pigmentary retinopathy, Failure to thrive, Hypoplasia of the iris, Se...	OMIM:133540
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg...	OMIM:252500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Failure to thrive, Corneal opacity	ORPHA:364577
Dubowitz Syndrome	Hypoplasia of the iris, Megalocornea, Rod-cone dystrophy, Microphthalmia, Iris coloboma	OMIM:223370
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Abnormal retinal morphology, Bilateral microphthalmos, Decreased bo...	OMIM:610758
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal malrotation, ...	ORPHA:500095
Monosomy 18P	Microphthalmia	ORPHA:1598
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Wolf-Hirschhorn Syndrome	Failure to thrive, Ectopia pupillae, Rieger anomaly, Iris coloboma, Small for gestational age	OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Microcornea, Optic atrophy, Failure to thrive, Ectopia pupillae, Retinal coloboma, Abno...	ORPHA:261552
Smith-Magenis Syndrome	Increased body weight, Retinal detachment	OMIM:182290
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Sponastrime Dysplasia	Cataract, Microcoria, Congenital aphakia	ORPHA:93357
Aicardi Syndrome	Cataract, Optic atrophy, Optic disc coloboma, Retinal detachment, Chorioretinal lacunae, Micropht...	OMIM:304050
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Fanconi Anemia, Complementation Group S	Failure to thrive, Microphthalmia	OMIM:617883
Basal Cell Nevus Syndrome 1	Cataract, Iris coloboma, Microphthalmia	OMIM:109400
Leprechaunism	Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg...	ORPHA:508
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Iris coloboma, Microphthalmia	ORPHA:3186
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Retinoblastoma, Chorioretinal coloboma, Microphthalmia	OMIM:613884
Alternating Hemiplegia Of Childhood	Mydriasis, Failure to thrive	ORPHA:2131
Moebius Syndrome	Microphthalmia	OMIM:157900
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Microphthalmia, Syndromic 2	Microcornea, Anophthalmia, Decreased body weight, Phthisis bulbi, Retinal detachment, Remnants of...	OMIM:300166
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter...	ORPHA:79328
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Holoprosencephaly	Optic atrophy, Chorioretinal coloboma, Failure to thrive in infancy, Anophthalmia, Retinopathy, M...	ORPHA:2162
Arachnoid Cyst	Mydriasis	ORPHA:2356
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Oculodentodigital Dysplasia	Optic atrophy, Cataract, Microcornea, Abnormality iris morphology	ORPHA:2710
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Developmental cataract, Microphthalmia	ORPHA:464738
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Oculodentodigital Dysplasia	Microphthalmia, Cataract, Microcornea, Uveitis	OMIM:164200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Peters anomaly, Tall stature, Coloboma, Microphthalmia	OMIM:616975
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Treacher-Collins Syndrome	Cataract, Iris coloboma, Failure to thrive, Microphthalmia	ORPHA:861
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Abnormal optic disc morphology, Coloboma, Microphthalmia, Iris coloboma, Optic ...	ORPHA:508498
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Limb Anomalies	Failure to thrive, Anophthalmia, Microphthalmia	OMIM:206920
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Pseudotrisomy 13 Syndrome	Cyclopia, Microphthalmia	OMIM:264480
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma	ORPHA:276280
Mend Syndrome	Cataract, Failure to thrive, Microphthalmia	ORPHA:401973
Mosaic Trisomy 1	Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Trichothiodystrophy	Microcornea, Macular degeneration, Bilateral microphthalmos, Astigmatism, Retinal degeneration, K...	ORPHA:33364
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Neurocardiofaciodigital Syndrome	Cataract, Failure to thrive, Sclerocornea, Optic disc pallor, Small for gestational age	OMIM:619869
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Failure to thrive	ORPHA:411629
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Small for gestational age, Megalocornea	ORPHA:284979
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Ogden Syndrome	Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge...	OMIM:300855
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract, Microphthalmia	OMIM:309000
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Tall stature, Abnormality iris morphology	ORPHA:91387
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections	OMIM:615873
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract, Uveitis	ORPHA:2108
Meacham Syndrome	Horseshoe kidney, Enlarged kidney	OMIM:608978
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Microphthalmia, Syndromic 6	Microcornea, Failure to thrive, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Retinal dys...	OMIM:607932
Dysbetalipoproteinemia	Obesity, Corneal arcus	ORPHA:412
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Holoprosencephaly 2	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:306955
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Abdominal obesity	OMIM:615954
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
1P21.3 Microdeletion Syndrome	Obesity, Astigmatism	ORPHA:293948
Myhre Syndrome	Cataract, Obesity, Small for gestational age, Microphthalmia	OMIM:139210
Cocaine Intoxication	Mydriasis	ORPHA:90068
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Failure to thrive, Corneal opacity	OMIM:608670
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Pterygium, Microphthalmia, Opacification of the corneal ...	OMIM:263650
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age	ORPHA:263455
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Microphthalmia	ORPHA:2166
Holoprosencephaly 7	Iris coloboma, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Chromosome 13Q33-Q34 Deletion Syndrome	Small for gestational age, Microphthalmia	OMIM:619148
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Microphthalmia	OMIM:620005
22Q11.2 Deletion Syndrome	Cataract, Optic atrophy, Failure to thrive, Retinal arteriolar tortuosity, Obesity, Corneal neova...	ORPHA:567
Renpenning Syndrome 1	Cataract, Coloboma, Microphthalmia	OMIM:309500
Proteus Syndrome	Retinal nonattachment, Long penis, Chorioretinal coloboma, Splenomegaly, Abnormality of retinal p...	ORPHA:744
Insulinoma	Increased body weight	ORPHA:97279
Fanconi Anemia	Cataract, Astigmatism, Aplasia/Hypoplasia of the iris, Weight loss, Microphthalmia	ORPHA:84
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Increased body weight, Failure to thrive, Abdominal obesity	ORPHA:398069
Fryns Syndrome	Large for gestational age, Opacification of the corneal stroma, Microphthalmia	OMIM:229850
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Scorpion Envenomation	Mydriasis	ORPHA:466677
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Sotos Syndrome	Increased body weight, Tall stature, Overgrowth	OMIM:117550
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:620186
Charge Syndrome	Optic atrophy, Chorioretinal coloboma, Anophthalmia, Coloboma, Microphthalmia, Iris coloboma	ORPHA:138
Galloway-Mowat Syndrome 3	Failure to thrive, Microphthalmia	OMIM:617729
Focal Dermal Hypoplasia	Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Aniridia, Anophthalmia, Microphthalmia, Ir...	OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Fanconi Anemia, Complementation Group N	Small for gestational age, Microphthalmia	OMIM:610832
Townes-Brocks Syndrome	Cataract, Iris coloboma, Failure to thrive, Chorioretinal coloboma, Microphthalmia, Limbal dermoid	ORPHA:857
Fanconi Anemia, Complementation Group F	Failure to thrive, Microphthalmia	OMIM:603467
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 1	Cyclopia, Microphthalmia	OMIM:236100
Ohdo Syndrome, X-Linked	Microphthalmia, Decreased body weight	OMIM:300895
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Cardiac-Urogenital Syndrome	Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney	OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega...	OMIM:312870
Fanconi Anemia, Complementation Group E	Small for gestational age, Microphthalmia	OMIM:600901
Yunis-Varon Syndrome	Cataract, Bilateral microphthalmos, Severe failure to thrive, Microphthalmia, Sclerocornea	ORPHA:3472
Fanconi Anemia, Complementation Group A	Small for gestational age, Microphthalmia	OMIM:227650
Charge Syndrome	Cataract, Retinal coloboma, Unilateral microphthalmos, Anophthalmia, Coloboma, Microphthalmia, Ir...	OMIM:214800
Branchiooculofacial Syndrome	Cataract, Retinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:113620
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Meckel Syndrome, Type 1	Iris coloboma, Microphthalmia	OMIM:249000
Fanconi Anemia, Complementation Group C	Small for gestational age, Microphthalmia	OMIM:227645
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Coloboma	ORPHA:47159
Microphthalmia With Limb Anomalies	Optic atrophy, True anophthalmia, Failure to thrive, Microphthalmia	ORPHA:1106
Microphthalmia, Syndromic 1	Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Mi...	OMIM:309800
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Antecubital pterygium, Popliteal pterygium, Microphthalmia	OMIM:609945
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Neu-Laxova Syndrome 1	Pterygium, Cataract, Microphthalmia	OMIM:256520
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Anophthalmia, Microphthalmia	ORPHA:2538
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Attenuation of retinal blood vessels, Severe failure to thrive, Optic d...	ORPHA:468631
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Failure to thrive	ORPHA:264580
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Abdominal obesity	ORPHA:189427
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microphthalmia	OMIM:227646
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Roberts-Sc Phocomelia Syndrome	Cataract, Coloboma, Corneal opacity, Microphthalmia, Opacification of the corneal stroma	OMIM:268300
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight	ORPHA:2298
Monosomy 9P	Microphthalmia	ORPHA:261112
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Corneal opacity	OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Failure to thrive, Retinal coloboma, Astigmatism, Axenfeld anomaly, Microphthalmia, Iri...	ORPHA:261537
Degcags Syndrome	Small for gestational age, Failure to thrive, Microphthalmia	OMIM:619488
Mowat-Wilson Syndrome	Cataract, Retinal coloboma, Astigmatism, Axenfeld anomaly, Decreased body weight, Microphthalmia,...	ORPHA:2152
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Fontaine Progeroid Syndrome	Small for gestational age, Failure to thrive, Microphthalmia	OMIM:612289
Cushing Disease	Increased body weight, Optic nerve compression, Truncal obesity, Abdominal obesity	ORPHA:96253
Hellp Syndrome	Increased body weight	ORPHA:244242
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Small for gestational age, Bilateral microphthalmos, Retinal coloboma	ORPHA:508488
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Pallister-Hall Syndrome	Large for gestational age, Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Craniofacial Microsomia 1	Limbal dermoid, Anophthalmia, Microphthalmia	OMIM:164210
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Truncal obesity, Abdominal obesity	ORPHA:99889
Carney Complex	Increased body weight, Tall stature, Abdominal obesity	ORPHA:1359

Histopathology

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

There is no histopathology data for Gja8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gja8.

No publications found that use IMPC mice or data for Gja8.

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MGI Allele	Allele Type	Produced
Gja8^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Gja8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gja8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gja8 MGI:99953

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Echo

X-ray

X-ray

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Gja8 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data