Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
leucine-rich repeat-containing G protein-coupled receptor 4
Synonyms:
Gpr48,  A930009A08Rik,  A330106J01Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lgr4 mutations

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

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

The table below shows human diseases associated to Lgr4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Delayed puberty OMIM:619613

The table below shows human diseases predicted to be associated to Lgr4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Inflamm... ORPHA:39044
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Retinal vein occlusion, Pseud... OMIM:177650
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Short stature, Aplasia... ORPHA:290
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract, Miosis OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Large for gestational age ORPHA:2432
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, A... OMIM:204000
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Short stature, Decreased testicular size ORPHA:436144
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo... ORPHA:65
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Cataract 44
Developmental cataract OMIM:616509
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Mucolipidosis Iv
Cerebellar atrophy, Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Retinal ... OMIM:252650
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal memb... ORPHA:279914
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Cataract, Short stature, Macular atrophy, Optic atrophy, C... OMIM:616171
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate sho... ORPHA:85194
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Short stature, Obesity ORPHA:893
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract-Ataxia-Deafness-Retardation Syndrome
Short stature, Developmental cataract OMIM:212710
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract OMIM:615995
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Dermoids Of Cornea
Corneal opacity OMIM:304730
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microphthalmia, Syndromic 13
Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Nathalie Syndrome
Arrhythmia, Cataract, Short stature ORPHA:2663
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decreased corneal thickne... OMIM:614170
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation, Short stature ORPHA:2090
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Short Syndrome
Severe short stature, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morph... ORPHA:3163
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Winchester Syndrome
Corneal opacity OMIM:277950
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Short stature, Opacification of the corneal stroma ORPHA:1643
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... ORPHA:280921
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Cataract, Small for gestational age OMIM:278780
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Miosis, Hypoplasia of the iris, Chorioretinal coloboma, Intrauterine growth... ORPHA:1422
Dysequilibrium Syndrome
Cataract, Short stature ORPHA:1766
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Microcornea, Growth delay, Microphthalmia ORPHA:2528
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Abnormally prominent line of ... OMIM:109120
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Distal Deletion 6P
Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechiae... ORPHA:96125
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Developmental cataract, Retinal dysplasia, Microphthalmia, Ocular anteri... ORPHA:324416
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Failure to th... ORPHA:411629
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Microphthalmia, Cere... ORPHA:1466
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Anterior Segment Dysgenesis 6
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... OMIM:617315
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Cataract 42
Cataract, Developmental cataract OMIM:115900
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat... OMIM:271630
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Umbilical hernia, Iris c... OMIM:222448
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Spastic Paraparesis And Deafness
Cataract, Short stature OMIM:312910
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Cataract OMIM:617133
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Growth delay, Microphthalmia, F... ORPHA:1617
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht... OMIM:212550
Pelvis-Shoulder Dysplasia
Short stature, Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bi... OMIM:169550
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Periodontitis, Otitis media with effusion... ORPHA:2791
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Short stature, Opacification of the corneal stroma OMIM:230650
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Short stature, Hypospadias, U... ORPHA:261529
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature ORPHA:2815
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Gillespie Syndrome
Hypoplasia of the iris, Cerebellar atrophy, Aniridia OMIM:206700
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Short stature, Keratoglobus, Astigmatism, Retin... OMIM:108145
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Enlarged uterus ORPHA:99927
Aniridia 3
Aniridia, Cataract OMIM:617142
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Short stature, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior... ORPHA:2479
Neuhauser Syndrome
Iridodonesis, Short stature, Hypoplasia of the iris, Megalocornea, Cerebral cortical atrophy OMIM:249310
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Ao... OMIM:614819
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... ORPHA:90354
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Mydriasis ORPHA:247815
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Growth delay, Keratoconjunctivitis sicca, Punctate keratitis, Failure to th... OMIM:617388
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Growth delay OMIM:244600
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat... OMIM:270200
Gómez-López-Hernández Syndrome
Corneal opacity, Short stature ORPHA:1532
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Severe short stature, Optic disc coloboma OMIM:600092
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Grow... ORPHA:782
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Short stature, Abnormal vitreous humor morphology, Exudative... ORPHA:2788
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia o... ORPHA:3378
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Short stature ORPHA:2370
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Cataract, Chorioretinal coloboma ORPHA:2489
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Intestinal Botulism
Mydriasis ORPHA:178481
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Trichomegaly
Cataract OMIM:190330
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Cataract, Small for gestational age, Short stature, Optic atrophy, Cerebral a... OMIM:251300
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Severe postnatal growth retardation, Abnormal optic disc morphology, Decreased cor... ORPHA:293967
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent... OMIM:204200
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Mucolipidosis Type Iii
Short stature, Corneal opacity, Acne ORPHA:577
Cat-Eye Syndrome
Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... ORPHA:163934
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Weill-Marchesani Syndrome 4
Iridodonesis, Short stature, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the... OMIM:613195
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Partington Syndrome
Macroorchidism ORPHA:94083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Cataract, Corneal opacity OMIM:613153
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Severe short stature, Opacification o... OMIM:256540
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Short stature ORPHA:85288
Infant Botulism
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media, Mydr... ORPHA:178478
Galactosemia Iv
Cataract OMIM:618881
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycori... OMIM:175780
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Severe short stature ORPHA:2278
Sialidosis Type 2
Umbilical hernia, Short stature, Corneal opacity, Abnormal macular morphology ORPHA:87876
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Pyknoachondrogenesis
Stillbirth OMIM:265880
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Short Syndrome
Rieger anomaly, Cataract, Small for gestational age, Birth length less than 3rd percentile, Astig... OMIM:269880
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization, Chronic rhinitis OMIM:615225
Nail-Patella Syndrome
Keratoconus, Cataract, Short stature, Glomerulonephritis, Spina bifida, Antecubital pterygium, Mi... OMIM:161200
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Microphthalmia ORPHA:627
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Short stature, Weight loss ORPHA:317
Nathalie Syndrome
Growth delay, Abnormal EKG, Cataract OMIM:255990
Warburg Micro Syndrome 1
Short stature, Optic atrophy, Cerebral atrophy, Developmental cataract, Microcornea, Microphthalm... OMIM:600118
Galactosemia Ii
Cataract OMIM:230200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature ORPHA:139474
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,... OMIM:615147
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Short stature, Cataract OMIM:614284
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Harel-Yoon Syndrome
Cerebellar atrophy, Corneal opacity, Optic atrophy, Developmental cataract, Hypertrophic cardiomy... OMIM:617183
Spermatogenic Failure 17
Male infertility OMIM:617214
Atkin-Flaitz Syndrome
Macroorchidism, Short stature ORPHA:1193
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Developmental cataract, Abnormal left ventricular function, Card... OMIM:613155
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... ORPHA:485
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Hypopigmentation of t... OMIM:611584
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Short stature, Opacification of the corneal stroma OMIM:252605
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Foodborne Botulism
Arrhythmia, Mydriasis ORPHA:228371
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth... ORPHA:85410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Short stature ORPHA:1064
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Inhalational Botulism
Mydriasis ORPHA:254504
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Short stature, Hyperopic astigmatism, Opacification of the corneal stroma, ... OMIM:252600
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Developmental And Epileptic Encephalopathy 35
Cataract, Cerebral atrophy, Cardiomyopathy, Brain atrophy, Intrauterine growth retardation OMIM:616647
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Dubowitz Syndrome
Short stature, Eczema, Postnatal growth retardation, Hypoplasia of the iris, Otitis media, Microp... OMIM:223370
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Short stature ORPHA:1380
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Cockayne Syndrome B
Severe short stature, Small for gestational age, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Miller Fisher Syndrome
Anisocoria, Facial palsy, Mydriasis ORPHA:98919
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Microcornea, Microphthalmia, Cerebral cortical atrophy, Abnormality of p... ORPHA:48431
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Short stature, Hypertension ORPHA:3156
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy OMIM:617255
Hurler-Scheie Syndrome
Corneal opacity, Short stature, Cardiomyopathy, Rhinitis, Abnormal nerve conduction velocity ORPHA:93476
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma ORPHA:521445
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,... OMIM:615542
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Optic atrophy ORPHA:401777
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Pneumonia, Chronic otitis media ORPHA:169090
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Spina bifida, Ectopia lentis, Hypoplasia of the iris... ORPHA:2092
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Severe short stature, Short stature, Growth delay, Truncal obesity, Decreased bod... OMIM:270450
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Delayed pub... ORPHA:496790
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Cystinosis, Nephropathic
Failure to thrive in infancy, Short stature, Retinal pigment epithelial mottling, Cerebral atroph... OMIM:219800
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short stature OMIM:300261
Juvenile Nephropathic Cystinosis
Hypovolemia, Growth delay, Abnormal cornea morphology, Corneal crystals, Failure to thrive ORPHA:411634
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... ORPHA:225
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Trisomy 12P
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Short stature ORPHA:1699
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor, Cataract OMIM:613730
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Opacification of the corneal stroma OMIM:215250
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Mydriasis ORPHA:43116
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Kahrizi Syndrome
Cataract, Short stature, Iris coloboma OMIM:612713
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... ORPHA:233
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Developmental cataract ORPHA:1383
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Microtriplication 11Q24.1
Keratoconus, Short stature, Obesity ORPHA:289522
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Leukocoria,... ORPHA:2714
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Marfan Syndrome
Retinal detachment, Flat cornea, Arthralgia/arthritis, Cachexia, Lens luxation, Ectopia lentis, C... ORPHA:558
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Linear Verrucous Nevus Syndrome