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Gene: Lgr4 MGI:1891468

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Smal... ORPHA:1916
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Inflammatory abnormality of the ... ORPHA:39044
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Catar... OMIM:177650
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Cataract, Shallow a... OMIM:310600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Congenital Rubella Syndrome
Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Abnormality of retinal pigmentation, Ca... ORPHA:290
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Congenital Primary Aphakia
Retinal dysplasia, Microphthalmia, Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting... ORPHA:83461
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior s... OMIM:614195
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis, Microphthalmia OMIM:156850
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Growth delay, Fundus atrophy, ... OMIM:204000
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy OMIM:210370
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia OMIM:273150
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... OMIM:612109
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Leber Congenital Amaurosis
Encephalocele, Abnormal optic disc morphology, Abnormality of retinal pigmentation, Cataract, Ker... ORPHA:65
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Cataract 44
Developmental cataract OMIM:616509
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Aniridia 3
Cataract OMIM:617142
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Cerebellar atrophy, Opacification of the co... OMIM:252650
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Foveal Hypoplasia 2
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... OMIM:609218
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Intermediate Uveitis
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... ORPHA:279914
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
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... OMIM:217300
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Spondylo-Ocular Syndrome
Short stature, Iris hypopigmentation, Cataract, Microphthalmia, Retinal detachment, Disproportion... ORPHA:85194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Short stature, Macular atrophy, Microcornea, Cataract, Microphthalmia... OMIM:616171
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Obesity, Short stature ORPHA:893
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Bilateral cryptorchidism, Male infertility OMIM:261550
Cataract-Ataxia-Deafness-Retardation Syndrome
Short stature, Developmental cataract OMIM:212710
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 18
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity OMIM:615995
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Short stature, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Mi... OMIM:251270
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Retinitis Pigmentosa
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal reti... ORPHA:791
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Microphthalmia, Syndromic 13
Short stature, Microcornea, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:300915
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Nathalie Syndrome
Cataract, Short stature, Arrhythmia ORPHA:2663
Brittle Cornea Syndrome 2
Umbilical hernia, Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, F... OMIM:614170
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia, Microcornea OMIM:613517
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Cataract 7
Developmental cataract OMIM:115660
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Gms Syndrome
Rieger anomaly, Short stature, Tricuspid regurgitation ORPHA:2090
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... ORPHA:3163
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Winchester Syndrome
Corneal opacity OMIM:277950
Amoebic Keratitis
Abnormal anterior chamber morphology, Scleritis, Abnormal corneal epithelium morphology, Corneal ... ORPHA:67043
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:120433
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye, Short stature ORPHA:1643
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop... OMIM:603165
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology OMIM:229200
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... ORPHA:209959
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Cataract, Microphthalmia, Growth delay OMIM:278780
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Chondrodysplasia-Disorder Of Sex Development Syndrome
Hypoplasia of the iris, Severe short stature, Chorioretinal coloboma, Miosis, Intrauterine growth... ORPHA:1422
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Rieger anomaly, Short... OMIM:109120
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Microcornea, Cataract, Growth delay, Microphthalmia ORPHA:2528
Dysequilibrium Syndrome
Cataract, Short stature ORPHA:1766
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Inflammatory abnormal... ORPHA:179
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Microphthalmia, Oc... ORPHA:324416
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Infantile Nephropathic Cystinosis
Corneal crystals, Failure to thrive, Abnormal cornea morphology, Growth delay, Pigmentary retinop... ORPHA:411629
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cofs Syndrome
Cerebral cortical atrophy, Optic atrophy, Short stature, Abnormality of retinal pigmentation, Cat... ORPHA:1466
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Cataract 42
Cataract, Developmental cataract OMIM:115900
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Opacification of the corneal stroma, Disproportionate ... OMIM:271630
Spastic Paraparesis And Deafness
Cataract, Short stature OMIM:312910
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Ocular Cystinosis
Corneal crystals ORPHA:411641
2Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Cataract, Microphthalmia, Growth delay, Abnormality... ORPHA:1617
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Cataract, Retinal detachment, Umbilical... OMIM:222448
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Otodental Syndrome
Periodontitis, Microcornea, Lens coloboma, Otitis media with effusion, Iris coloboma, Cataract, M... ORPHA:2791
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Cataract OMIM:617133
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Miscarriage ORPHA:99927
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Micro... OMIM:212550
Congenital Varicella Syndrome
Cataract, Cerebral cortical atrophy, Microphthalmia, Intrauterine growth retardation ORPHA:291
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida occulta, Iris coloboma, Microphthalmia, Opacification of the corneal ... OMIM:169550
Scheie Syndrome
Aortic regurgitation, Retinal degeneration, Corneal opacity, Aortic valve stenosis OMIM:607016
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Microphthalmia, Obesity, Retinal coloboma ORPHA:363741
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature ORPHA:2815
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Diffuse cerebral atrophy, Short stature OMIM:230650
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Microphthalmia, Obesity, Retinal coloboma OMIM:601794
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Megalocornea-Mental Retardation Syndrome
Megalocornea, Cerebral cortical atrophy, Short stature, Hypoplasia of the iris, Iridodonesis OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Short stature, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior... ORPHA:2479
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Gillespie Syndrome
Cerebellar atrophy, Hypoplasia of the iris, Aniridia OMIM:206700
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Shallow anterior chamber, Aortic valve stenosis, Microspherophakia... OMIM:614819
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Retinal detachment, Decreased corneal thickness,... ORPHA:90354
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Mydriasis ORPHA:247815
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... OMIM:617388
Neovascular Glaucoma
Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Abnormal posterio... ORPHA:94058
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Optic disc coloboma, Severe short stature OMIM:600092
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Arthrogryposis, Distal, Type 5
Keratoglobus, Retinal fold, Short stature, Abnormality of retinal pigmentation, Astigmatism, Kera... OMIM:108145
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Gómez-López-Hernández Syndrome
Corneal opacity, Short stature ORPHA:1532
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Retinal thinning, Ma... OMIM:270200
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology, Posterior embryotoxon, Grow... ORPHA:782
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy, Truncal obesity ORPHA:75858
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Keratoconus Posticus Circumscriptus
Keratoconus, Growth delay, Central posterior corneal opacity OMIM:244600
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Intrauterine growth retardation, Chorioretinal coloboma ORPHA:2489
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Moderate intrauterine growth retardation, Abnormal optic disc morphology, Delayed ... ORPHA:293967
Trisomy 13
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Microphthal... ORPHA:3378
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Short stature, Intrauterine growth retardation ORPHA:2370
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Short stature, Exudative retinopathy, Corneal opacity, Microphthalmi... ORPHA:2788
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... OMIM:152950
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Intestinal Botulism
Mydriasis ORPHA:178481
Trichomegaly
Cataract OMIM:190330
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hyp... OMIM:614840
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Short stature, Retinal dystrophy, Bone sp... OMIM:616108
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... OMIM:278730
Mucolipidosis Type Iii
Corneal opacity, Short stature, Acne ORPHA:577
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Cat-Eye Syndrome
Short stature, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Intrauterine growth retarda... ORPHA:195
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis, Ble... ORPHA:163934
Galloway-Mowat Syndrome 1
Optic atrophy, Short stature, Small for gestational age, Hypoplasia of the iris, Cataract, Microp... OMIM:251300
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Lens subluxation, Catar... OMIM:601552
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Weill-Marchesani Syndrome 4
Phakodonesis, Short stature, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow... OMIM:613195
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Microphthalmia, Corneal opacity OMIM:613153
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Galactosialidosis
Severe short stature, Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry re... OMIM:256540
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Galactosemia Iv
Cataract OMIM:618881
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ... OMIM:204200
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Macular atrophy, Shallow anterior chamber, Microphthalmia, Cystoid macular ... OMIM:267760
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioreti... ORPHA:139471
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of th... OMIM:175780
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... OMIM:614377
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Severe short stature ORPHA:2278
Pyknoachondrogenesis
Stillbirth OMIM:265880
Nance-Horan Syndrome
Retinal detachment, Cataract, Microphthalmia, Microcornea ORPHA:627
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Infant Botulism
Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Chronic otitis ... ORPHA:178478
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Microphthalmia, Retinal detachmen... OMIM:615145
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Ii
Cataract OMIM:230200
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis, Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Multiple renal cys... OMIM:193300
Short Syndrome
Megalocornea, Rieger anomaly, Birth length less than 3rd percentile, Small for gestational age, A... OMIM:269880
Nail-Patella Syndrome
Lester's sign, Short stature, Spina bifida, Microcornea, Antecubital pterygium, Glomerulonephriti... OMIM:161200
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Cataract, Short stature ORPHA:85288
Sialidosis Type 2
Umbilical hernia, Short stature, Corneal opacity, Abnormal macular morphology ORPHA:87876
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Erythrokeratodermia Variabilis
Weight loss, Short stature, Skin rash, Cataract, Corneal opacity ORPHA:317
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Nathalie Syndrome
Cataract, Growth delay, Abnormal EKG OMIM:255990
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Macular hypoplasi... ORPHA:91495
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Comedonal acne, Absent... OMIM:615147
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Failure to thrive, Cataract, Intrauterine growth retarda... OMIM:214110
Norrie Disease
Abnormal pupil morphology, Cerebral cortical atrophy, Optic atrophy, Hypoplasia of the iris, Ante... ORPHA:649
Warburg Micro Syndrome 1
Optic atrophy, Short stature, Developmental cataract, Microcornea, Failure to thrive, Microphthal... OMIM:600118
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... OMIM:618815
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Stickler Syndrome, Type V
Retinal detachment, Cataract, Short stature, Vitreoretinopathy OMIM:614284
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, ... ORPHA:542306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... OMIM:613154
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Severe short stature, Cataract, Disproportionate short-limb short stature OMIM:127200
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Chorioretinal coloboma, Microcornea OMIM:601706
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Corneal neovascularization, Chronic mucocutaneous candidiasis, Recurrent pn... OMIM:158310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Retinal dystrophy, Developmental cataract, Abnormal left ventricular function, Micr... OMIM:613155
Kniest Dysplasia
Lattice retinal degeneration, Lens luxation, Rhegmatogenous retinal detachment, Vitreoretinopathy... ORPHA:485
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma, Short stature OMIM:252605
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Cerebellar a... OMIM:617183
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Anterior chamber synechiae, Uveitis, Failure to thrive, Cat... ORPHA:85410
Inhalational Botulism
Mydriasis ORPHA:254504
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia, Short stature ORPHA:1064
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Waardenburg Syndrome, Type 2E
Ocular albinism, Hypoplasia of the iris, Iris hypopigmentation, Hypopigmentation of the fundus, H... OMIM:611584
Mucolipidosis Iii Alpha/Beta
Retinopathy, Short stature, Hyperopic astigmatism, Retinal degeneration, Aortic regurgitation, Op... OMIM:252600
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Short stature ORPHA:1380
Developmental And Epileptic Encephalopathy 35
Brain atrophy, Cataract, Cerebral atrophy, Intrauterine growth retardation, Cardiomyopathy OMIM:616647
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Dubowitz Syndrome
Rod-cone dystrophy, Megalocornea, Short stature, Hypoplasia of the iris, Eczema, Iris coloboma, M... OMIM:223370
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased female libido, Decreased testicular size,... ORPHA:52901
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Cockayne Syndrome B
Optic atrophy, Small for gestational age, Hypoplasia of the iris, Abnormal auditory evoked potent... OMIM:133540
Senior-Loken Syndrome
Short stature, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Abnormality of peripheral nerve conduction, Short stature, Microcornea... ORPHA:48431
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis OMIM:613834
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... ORPHA:2119
Mucolipidosis Type Iv
Retinopathy, Corneal opacity, Abnormality of retinal pigmentation ORPHA:578
Hurler-Scheie Syndrome
Rhinitis, Abnormal nerve conduction velocity, Short stature, Corneal opacity, Cardiomyopathy ORPHA:93476
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... OMIM:137920
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Buphthalmos, Primary congenital glaucoma, Rieger anomaly ORPHA:521445
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Telangiectasia of the skin, Ectopia lentis, Iris coloboma, ... ORPHA:2092
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Pneumonia, Chronic otitis media ORPHA:169090
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus, Hydronephrosis OMIM:615996
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Obesity, Sclerocornea ORPHA:251038
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short stature OMIM:300261
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Juvenile Nephropathic Cystinosis
Hypovolemia, Corneal crystals, Failure to thrive, Abnormal cornea morphology, Growth delay ORPHA:411634
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Cystinosis, Nephropathic
Retinopathy, Weight loss, Short stature, Retinal pigment epithelial mottling, Corneal crystals, D... OMIM:219800
Trisomy 12P
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Short stature ORPHA:1699
Maternally-Inherited Diabetes And Deafness
Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Hypertrop... ORPHA:225
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Microphthalmia OMIM:613730
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Delayed puberty, Co... ORPHA:496790
Kid Syndrome
Conjunctivitis, Angular cheilitis, Recurrent bacterial skin infections, Recurrent cutaneous funga... ORPHA:477
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Opacification of the corneal stroma, Short stature OMIM:215250
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Decreased body weight, Short stature, Severe short stature, Growth delay, Truncal... OMIM:270450
Lissencephaly 8
Occipital encephalocele, Cataract, Microphthalmia, Optic atrophy OMIM:617255
Optic Atrophy-Intellectual Disability Syndrome
Short stature, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus ORPHA:401777
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Kahrizi Syndrome
Cataract, Iris coloboma, Short stature OMIM:612713
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Short stature, Leukocoria, Remnants of the hyaloid vascular system, Catarac... ORPHA:2714
Microtriplication 11Q24.1
Keratoconus, Obesity, Short stature ORPHA:289522
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Developmental cataract ORPHA:1383
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Duane Retraction Syndrome
Abnormal pupil morphology, Central heterochromia, Optic disc hypoplasia, Microcornea, Hypoplastic... ORPHA:233
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Serotonin Syndrome
Hypotension, Mydriasis, Abnormality of the autonomic nervous system, Hypertension, Tachycardia ORPHA:43116
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Growth delay, Cataract, Short stature, Band keratopathy OMIM:604278
Marfan Syndrome
Meningocele, Increased axial length of the globe, Lens luxation, Hypoplasia of the iris, Cachexia... ORPHA:558
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Temtamy Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Oliver-Mcfarlane Syndrome
Central heterochromia, Small for gestational age, Retinal degeneration, Severe short stature, Del... OMIM:275400
Autosomal Recessive Stickler Syndrome
Short stature, Vitreoretinopathy, Astigmatism, Cataract, Retinal detachment ORPHA:250984
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Partington Syndrome
Macroorchidism ORPHA:94083
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Walker-Warburg Syndrome
Anophthalmia, Optic atrophy, Retinal dystrophy, Microcornea, Retinal dysplasia, Iris coloboma, Ca... ORPHA:899
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... OMIM:620103
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Narrow palpebral fissure, Renal cyst, Stillbirth, Renal hypop... OMIM:236500
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Short stature, Growth delay, Cerebral atrophy, Optic disc pallor, Facia... OMIM:259720
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia ORPHA:99000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Cataract, Decreased body weight, Short stature OMIM:618392
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Umbilical hernia, Megalocornea, Anophthalmia, Mitral regurgitation, Abnormal optic nerve morpholo... ORPHA:1101
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Short stature, Retinal thinning, Asteroid hyalosis OMIM:132450
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
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Nephroblastoma
Weight loss, Hypertension, Aniridia ORPHA:654
Corneal Dystrophy, Gelatinous Drop-Like