Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Norrie Disease
Shallow anterior chamber, Retinal dysplasia, Cataract, Hypoplasia of the iris, Opacification of t... OMIM:310600
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Facial Paresis, Hereditary Congenital, 1
Facial palsy, Decreased corneal reflex OMIM:601471
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/H... ORPHA:137902
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions, Macular dyst... OMIM:217800
Cherry red spot of the macula, Corneal opacity ORPHA:351
Uveal Melanoma
Zonular cataract, Inferior lens subluxation, Mydriasis, Inflammatory abnormality of the eye, Reti... ORPHA:39044
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Iris... OMIM:177650
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cataract, Cerebellar atrophy, Microcornea, Microphthalmia, Sho... OMIM:616171
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Microspherophakia-Metaphyseal Dysplasia
Growth delay, Microspherophakia, Lens coloboma, Lens subluxation, Retinal detachment, Short stature OMIM:157151
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Congenital Rubella Syndrome
Skin rash, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, ... ORPHA:290
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Growth delay, Cataract, Fundus atrophy OMIM:204000
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Chorioretinal de... ORPHA:98973
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia, Miosis OMIM:156850
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Lens subluxation, Retinal detachment ORPHA:171844
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Cataract, Retinal dystrophy OMIM:610156
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Developmental cataract, Short stature, Decreased body weight OMIM:618284
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Cerebellar atrophy, Opacification of the corneal stroma, O... OMIM:252650
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
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
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopig... OMIM:106210
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Disproportionate short-trunk short stature, Microphthalmia, Shor... ORPHA:85194
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Intermediate Uveitis
Macular scar, Vitreous haze, Vitreous snowballs, Cystoid macular edema, Epiretinal membrane, Opti... ORPHA:279914
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Short stature, Obesity ORPHA:893
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Short stature, Nuclear cataract, Severe short stature OMIM:223540
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Short stature ORPHA:1380
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Remnants of the hyaloid vascular system, Shallow ante... OMIM:221900
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Cerebral atrophy, Retinal dystrophy... OMIM:251270
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract, Short stature OMIM:212710
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Nathalie Syndrome
Cataract, Arrhythmia, Short stature ORPHA:2663
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Scleritis, Abnormal corne... ORPHA:67043
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Umbilical hernia, Megalocornea, Flat corn... OMIM:614170
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Short Syndrome
Posterior embryotoxon, Corneal opacity, Weight loss, Severe short stature, Hypoplasia of the iris... ORPHA:3163
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation, Short stature ORPHA:2090
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Morquio Syndrome C
Corneal opacity, Severe short stature OMIM:252300
Cataract 7
Developmental cataract OMIM:115660
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Mental Retardation, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Cataract, Conjunctivitis, Eczema, Recurrent sk... OMIM:603165
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Short stature ORPHA:1643
Donnai-Barrow Syndrome
Iris coloboma, Umbilical hernia, Retinal dystrophy, Hypoplasia of the iris, Cataract, Retinal det... OMIM:222448
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Severe short stature, Hypoplasia of the iris, Intrauterine growth retarda... ORPHA:1422
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Short... OMIM:109120
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Cataract, Microcornea, Microphthalmia, Short stature ORPHA:2528
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Sh... OMIM:270200
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Distal Monosomy 6P
Abnormal anterior chamber morphology, Posterior embryotoxon, Corneal opacity, Hypoplasia of the i... ORPHA:96125
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Growth delay, Abnormal cornea morphology, Corneal crystals, Failure to th... ORPHA:411629
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Dysequilibrium Syndrome
Cataract, Short stature ORPHA:1766
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Idiopathic Panuveitis
Vitreous haze, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Choroidal neovascu... ORPHA:280921
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Brachyolmia Type 1, Toledo Type
Disproportionate short-trunk short stature, Opacification of the corneal stroma, Childhood-onset ... OMIM:271630
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Congenital Varicella Syndrome
Intrauterine growth retardation, Cataract, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Cerebral cortical atrophy, Microphthalmia, Short s... ORPHA:1466
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spastic Paraparesis And Deafness
Cataract, Short stature OMIM:312910
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Diffuse cerebral atrophy, Short stature OMIM:230650
Xeroderma Pigmentosum, Complementation Group G
Cataract, Growth delay, Microphthalmia OMIM:278780
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Microphthalmia, Abnormal anterior eye segment morphology, Exudati... ORPHA:209956
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Diffuse cerebellar atrophy ORPHA:247815
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Growth delay, Cataract, Small for gestational age, Microphthalmia, F... ORPHA:1617
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation, Proportionate short stature OMIM:138770
Otodental Syndrome
Otitis media with effusion, Retinal coloboma, Periodontitis, Iris coloboma, Lens coloboma, Catara... ORPHA:2791
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Microphthalmia, Rod-cone dystrophy, Obesity ORPHA:363741
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Cerebellar atrophy OMIM:617133
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Abnormal pup... ORPHA:364055
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystroph... OMIM:615147
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Decreased corneal sensation, Keratitis, Absent retinal pigment epithelium, Short stature, Failure... OMIM:122430
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Corneal opacity, Retinal degeneration OMIM:607016
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia, Rod-cone dystrophy, Obesity OMIM:601794
Short Syndrome
Rieger anomaly, Cataract, Megalocornea, Birth length less than 3rd percentile, Small for gestatio... OMIM:269880
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Short stature, Abnormal anterior chamber morp... ORPHA:2479
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature ORPHA:2815
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Cerebral cortical atrophy, Megalocornea, Iridodonesis, Short stature OMIM:249310
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve sten... OMIM:614819
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Short stature, Astigmatism OMIM:108145
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Growth delay, Uveitis, Punctate keratitis, Keratoconjunctivitis sicca, Corneal neova... OMIM:617388
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Gómez-López-Hernández Syndrome
Corneal opacity, Short stature ORPHA:1532
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Keratoglobus, Corneal scarring, Pulmonic stenosis, ... ORPHA:90354
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Growth delay OMIM:244600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Corpus callosum atrophy, Cardiomyopathy OMIM:225740
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Chorioretinal coloboma, Cataract ORPHA:2489
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Corneal opacity, Microphthalmia,... ORPHA:2788
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Moderate intrauterine growth retardation, Decreased corneal thickness, Abnormality of the optic d... ORPHA:293967
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testic... OMIM:614840
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Microphthalmia, Corneal neovascu... OMIM:278730
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Short stature ORPHA:2370
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Growth delay, Posterior embryotoxon, Aplasia/Hypoplasia of ... ORPHA:782
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular morphology, Mi... ORPHA:3378
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber morphology, Limba... OMIM:613001
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Intestinal Botulism
Mydriasis ORPHA:178481
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Growth delay, Corneal opacity, M... OMIM:120200
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Severe short stature OMIM:600092
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Concentric hypertrophic ca... OMIM:204200
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Ble... ORPHA:163934
Cataract OMIM:190330
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Microphthalmia, Short stature, Spina bifida o... OMIM:169550
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Short stature, Intrauterine growth retarda... ORPHA:195
Mucolipidosis Type Iii
Acne, Corneal opacity, Short stature ORPHA:577
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Growth delay, Band keratopathy OMIM:604278
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Wound Botulism
Mydriasis, Cardiac arrest ORPHA:178475
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea, Ret... OMIM:615145
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Small for gestational age, Failure to thrive OMIM:212540
Galactosemia Iv
Cataract OMIM:618881
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Ischemic stroke, Polycoria, Corneal opacity, Facial paralysis, Hypopigmen... OMIM:175780
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Cerebral atrophy, Failure to thrive OMIM:617393
Galloway-Mowat Syndrome 1
Cerebral atrophy, Hypoplasia of the iris, Cataract, Cerebellar atrophy, Opacification of the corn... OMIM:251300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia, Retinal detachment ORPHA:627
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Stillbirth OMIM:265880
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia, Opacification of the corneal stroma OMIM:615287
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Microphthalmia, ... ORPHA:139471
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Infant Botulism
Hypotension, Chronic otitis media, Hypertension, Keratoconjunctivitis sicca, Mydriasis, Cardiac a... ORPHA:178478
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Short stature ORPHA:85288
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Cataract, Truncal obesity, Pigmentary retinopathy OMIM:268050
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Short stature OMIM:610023
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Galactosemia Ii
Cataract OMIM:230200
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Severe short stature, Failure to thrive ORPHA:2278
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Rec... OMIM:158310
Warburg Micro Syndrome 1
Developmental cataract, Cerebral atrophy, Microcornea, Microphthalmia, Short stature, Failure to ... OMIM:600118
Erythrokeratodermia Variabilis
Skin rash, Corneal opacity, Weight loss, Cataract, Short stature ORPHA:317
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration, Mi... OMIM:267760
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Optic nerve dysplasia, Opacification of the c... OMIM:614866
Cystinosis, Nephropathic
Pigmentary retinopathy, Growth delay, Retinal pigment epithelial mottling, Cerebral atrophy, Fail... OMIM:219800
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Papillary cystadenoma of the epididymis, Neo... OMIM:193300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Dubowitz Syndrome
Iris coloboma, Postnatal growth retardation, Otitis media, Hypoplasia of the iris, Megalocornea, ... OMIM:223370
Sialidosis Type 2
Short stature, Abnormal macular morphology, Corneal opacity, Umbilical hernia ORPHA:87876
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Optic nerve dysplasia, Opacification of the c... OMIM:214110
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Arrhythmia, Mydriasis ORPHA:1267
Nail-Patella Syndrome
Keratoconus, Spina bifida, Microphakia, Cataract, Glomerulonephritis, Microcornea, Short stature,... OMIM:161200
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Conjunctival telangiectasia, Opacification of the corneal stroma, Cherry red spot of the macula, ... OMIM:256540
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardio... OMIM:618815
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Aniridia 2
Cataract, Aniridia OMIM:617141
Nathalie Syndrome
Cataract, Growth delay, Abnormal EKG OMIM:255990
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Disproportionate short-limb short stature, Severe short stature, Retinal detachment OMIM:127200
Meier-Gorlin Syndrome 8
Renal hypoplasia, Ptosis, Intrauterine growth retardation OMIM:617564
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Foodborne Botulism
Arrhythmia, Mydriasis ORPHA:228371
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Inhalational Botulism
Mydriasis ORPHA:254504
X-Linked Dominant Chondrodysplasia Punctata
Rhizomelia, Cataract, Microcornea, Microphthalmia, Short stature, Optic atrophy ORPHA:35173
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Retinal degeneration, Pr... ORPHA:542306
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Cockayne Syndrome B
Arrhythmia, Pigmentary retinopathy, Decreased nerve conduction velocity, Cerebral atrophy, Postna... OMIM:133540
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Cataract, Iris coloboma ORPHA:79326
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Retinal degeneration, Opacification of the corneal stroma, Short stature, H... OMIM:252600
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Short stature OMIM:300915
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Kniest Dysplasia
Disproportionate short stature, Lens luxation, Lattice retinal degeneration, Degenerative vitreor... ORPHA:485
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Menometrorrhagia ORPHA:99927
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Narrow palpebral fissure, Renal dysplasia, Neonatal death, Renal cy... OMIM:236500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Abnormality of the epididymis OMIM:613330
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Anterior chamber synechiae, Uveitis, Cataract, Failure to thrive, Knee oste... ORPHA:85410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Short stature ORPHA:1064
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Brain atrophy, Cataract, Intrauterine growth retardation, Cardiomyopathy OMIM:616647
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 42
Developmental cataract OMIM:115900
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy, Cataract, Short stature ORPHA:3156
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Ocular albinism, Hypopigmentation of the fundus, Hypoplasia of the iris, Bl... OMIM:611584
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Cataract, Cerebral cortical atrophy, Microcornea, Mic... ORPHA:48431
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Retinal dots, Retinal d... OMIM:193230
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation, Short stature OMIM:252605
3-Methylglutaconic Aciduria, Type Vii
Cataract, Growth delay, Cerebral atrophy, Cerebellar atrophy OMIM:616271
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal retinal vascular morphology, Abnormal pupil morpholo... ORPHA:2119
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Rhinitis, Short stature, Cardiomyopathy ORPHA:93476
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea, Obesity ORPHA:251038
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Epididymal c... OMIM:137920
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short stature OMIM:300261
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Primary congenital glaucoma, Rieger anomaly, Retinal detachment, Buphthalmos ORPHA:521445
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Decreased body weight, Truncal obesity, Short stature, Intrauterine growth retard... OMIM:270450
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615181
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Juvenile Nephropathic Cystinosis
Hypovolemia, Growth delay, Abnormal cornea morphology, Corneal crystals, Failure to thrive ORPHA:411634
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma, Failure to thrive ORPHA:171860
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Arrhythmia, Macular dystrophy, Hypertension, Cataract, Congest... ORPHA:225
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Chronic otitis media, Pneumonia ORPHA:169090
Microtriplication 11Q24.1
Keratoconus, Short stature, Obesity ORPHA:289522
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Serotonin Syndrome
Hypotension, Hypertension, Tachycardia, Mydriasis, Abnormality of the autonomic nervous system ORPHA:43116
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature ORPHA:139474
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Erythroderma, Conjunctivitis, Short stature, Failure to thrive OMIM:242150
Peroxisome Biogenesis Disorder 8B
Corpus callosum atrophy, Retinal dystrophy, Cataract, Cerebellar vermis atrophy, Failure to thriv... OMIM:614877
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Cataract, Abnormal cornea morphology, Retinopathy ORPHA:2611
Focal Dermal Hypoplasia
Chorioretinal coloboma, Spina bifida, Ectopia lentis, Iris coloboma, Corneal opacity, Umbilical h... ORPHA:2092
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Small for gestational age, Short stature OMIM:215250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Duane Retraction Syndrome
Chorioretinal coloboma, Central heterochromia, Aniridia, Optic disc hypoplasia, Iris coloboma, Mi... ORPHA:233
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Severe short stature, Delaye... OMIM:275400
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Optic atrophy ORPHA:401777
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Short stature, Retinal detachment, Astigmatism ORPHA:250984
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the iris, Short stature ORPHA:1699
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Frontal cortical atrophy, Global brain atrophy, Leukocor... ORPHA:2714
Partington Syndrome
Macroorchidism ORPHA:94083
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract, Delayed puberty, Cerebellar atrophy, Optic nerve hypoplasia, Optic atr... ORPHA:496790
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Adams-Oliver Syndrome 2
Developmental cataract, Optic atrophy, Microphthalmia, Cerebral atrophy OMIM:614219
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Umbilical hernia, Inguinal hernia, Congenital posterior urethral... OMIM:136140
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Short stature, Retinal thinning OMIM:132450
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Postnatal growth retardation OMIM:616113
Marfan Syndrome
Slender build, Arthralgia/arthritis, Lens luxation, Ectopia lentis, Hypoplasia of the iris, Menin... ORPHA:558
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria, Retinal dystrophy OMIM:263100
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Abnormal vitreous humor morphology, Umbilical hernia, Tricuspid regurgitation, Abnormal... ORPHA:1101
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract, Short stature ORPHA:1383
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerula... ORPHA:567544
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Aniridia, Hypertension, Weight loss ORPHA:654
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Corneal opacity, Cataract, Short stature, Abnormality of per... ORPHA:585
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pneumonia, Corneal opacity, Subcortical cerebral atrophy, Cataract, Cerebra... ORPHA:309288
Microphthalmia, Syndromic 5
Retinal dystrophy, Cataract, Microcornea, Optic nerve hypoplasia, Short stature, Anophthalmia, Mi... OMIM:610125
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Growth delay, Cataract, Small for gestational age, Microphthalmia, Intrau... OMIM:610756
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Mydriasis, Hypertension OMIM:613834
Waardenburg Syndrome, Type 1
Spina bifida, Heterochromia iridis, Hypopigmentation of the fundus, Hypoplastic iris stroma, Myel... OMIM:193500
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Atkin-Flaitz Syndrome
Macroorchidism, Short stature ORPHA:1193
Functioning Gonadotropic Adenoma
Ovarian cyst, Abnormality of the menstrual cycle, Infertility, Increased circulating gonadotropin... ORPHA:91348
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Knobloch Syndrome 1
Developmental cataract, Cerebral atrophy, Macular hypoplasia, Cerebellar atrophy, Vitreoretinopat... OMIM:267750
Blau Syndrome
Abnormal cranial nerve morphology, Pericarditis, Iritis, Uveitis, Cystoid macular edema, Synoviti... OMIM:186580
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy, Obesity OMIM:615418
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Growth delay, Cerebral atrophy, Cerebellar vermis atrophy OMIM:616154
Sialidosis Type 1
Corneal opacity, Cataract, Short stature, Decreased nerve conduction velocity, Retinopathy, Cherr... ORPHA:812
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Galactose Epimerase Deficiency
Cataract, Growth delay, Weight loss ORPHA:79238
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Failure to thrive OMIM:251290
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Von Hippel-Lindau Disease
Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Hyperhidrosis, Papillary cystadenoma... ORPHA:892
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Glomerulonephritis, ... OMIM:614376
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Agyria, Micropenis, Lissencephaly OMIM:300067