Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lgr4 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Small for gestational age, Cryptorchidism, Micro... ORPHA:1916
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Lens subluxation, Growth delay, Short stature, Lens coloboma, Microspherophakia OMIM:157151
Uveal Melanoma
Zonular cataract, Inflammatory abnormality of the eye, Retinal detachment, Iris melanoma, Vitreou... ORPHA:39044
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Growth delay, Peripheral vitreou... ORPHA:137902
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Microcornea, ... OMIM:616171
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Corneal opacity, ... ORPHA:290
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Megalocornea, Microspherophakia, Deep anterior chamber, Ectopia lentis OMIM:251750
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract, Miosis OMIM:156850
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Miosis, Microphthalmia, Macular atrophy, Re... OMIM:212550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Growth delay, Pigmentary retinopathy, Keratoconus, A... OMIM:204000
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility 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
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Enceph... ORPHA:65
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Short stature, Developmental cataract, Decreased body weight OMIM:618284
Cataract 44
Developmental cataract OMIM:616509
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, O... OMIM:252650
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
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
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, T... ORPHA:279914
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Disproportionate short-trunk short ... ORPHA:85194
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Wagr Syndrome
Short stature, Obesity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Obesity OMIM:615995
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
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
Dwarfism, Mental Retardation, And Eye Abnormality
Severe short stature, Nuclear cataract, Short stature, Hypoplasia of the iris OMIM:223540
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Cataract-Nephropathy-Encephalopathy Syndrome
Short stature, Cataract ORPHA:1380
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal... OMIM:251270
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cataract-Ataxia-Deafness-Retardation Syndrome
Short stature, Developmental cataract OMIM:212710
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Obesity, Keratoconus, Optic atrophy, Abnormal reti... ORPHA:791
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Nathalie Syndrome
Short stature, Cataract, Arrhythmia ORPHA:2663
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract, Cerebral atrophy OMIM:617393
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Pulmonic stenosis, Short stature, Microspherophakia, Aortic valve steno... OMIM:614819
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Umbilical hern... OMIM:614170
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Cataract 7
Developmental cataract OMIM:115660
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Gms Syndrome
Short stature, Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Severe short... ORPHA:3163
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Winchester Syndrome
Corneal opacity OMIM:277950
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Posterior synechiae of the anterior cham... OMIM:610256
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Dermatitis, Atopic
Recurrent skin infections, Cataract, Eczema, Allergic rhinitis, Atopic dermatitis, Keratoconus, C... OMIM:603165
Intellectual Developmental Disorder, X-Linked 2
Short stature, Macroorchidism OMIM:300428
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Microphth... OMIM:611040
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Short stature, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Growth delay, Small for gestational age OMIM:278780
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Inguinal her... ORPHA:457083
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Mios... ORPHA:280921
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Hypoplasia of the iris, Severe short sta... ORPHA:1422
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Inflammatory abnormality of the eye, Cata... ORPHA:179
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Growth delay, Microphthalmia, Short stature ORPHA:2528
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corneal epithelium, Sh... OMIM:270200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Short stature, Rieger... OMIM:109120
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Retinal dysplasia, Ocular anterior segment dysge... ORPHA:324416
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Truncal obesity ORPHA:75858
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Growth delay, Corneal crystals, Pigmentary retinopathy, Failure to th... ORPHA:411629
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Dysequilibrium Syndrome
Short stature, Cataract ORPHA:1766
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cofs Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Microphthalmia, S... ORPHA:1466
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Childhood-onset short-trunk short stature, Disproportionate ... OMIM:271630
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Ocular Cystinosis
Corneal crystals ORPHA:411641
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Donnai-Barrow Syndrome
Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dystrophy, Umbilical hernia, Iris c... OMIM:222448
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Spastic Paraparesis And Deafness
Short stature, Cataract OMIM:312910
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Short stature, Diffuse cerebral atrophy OMIM:230650
2Q24 Microdeletion Syndrome
Small for gestational age, Cataract, Growth delay, Microphthalmia, Failure to thrive, Abnormality... ORPHA:1617
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Gms Syndrome
Proportionate short stature, Tricuspid regurgitation, Rieger anomaly OMIM:138770
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Diffuse cerebellar atrophy ORPHA:247815
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Periodontitis, Microphthalmia, Otitis media with effusio... ORPHA:2791
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Pelvis-Shoulder Dysplasia
Microphthalmia, Short stature, Spina bifida occulta, Opacification of the corneal stroma, Optic d... OMIM:169550
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Cerebellar atrophy OMIM:617133
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Miosis, Macular edema, Nuclear cataract, Increased c... ORPHA:280914
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Aortic regurgitation OMIM:607016
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Comedonal acne, Retinal dystrophy,... OMIM:615147
Arthrogryposis, Distal, Type 5
Keratoglobus, Abnormality of retinal pigmentation, Astigmatism, Short stature, Keratoconus OMIM:108145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Short Syndrome
Intrauterine growth retardation, Small for gestational age, Cataract, Rieger anomaly, Birth lengt... OMIM:269880
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Hypoplasia of the iris, Astigmatism, Short st... ORPHA:2479
Neovascular Glaucoma
Iris neovascularization, Abnormal anterior chamber morphology, Retinal vascular proliferation, Re... ORPHA:94058
Megalocornea-Mental Retardation Syndrome
Iridodonesis, Hypoplasia of the iris, Short stature, Cerebral cortical atrophy, Megalocornea OMIM:249310
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Spastic Paraparesis-Deafness Syndrome
Short stature, Cataract ORPHA:2815
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Growth delay, Thyroiditis, Keratoconjunctivitis sicca, Failure to th... OMIM:617388
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, Decreased corneal thicknes... ORPHA:90354
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract, Intrauterine growth retardation ORPHA:2489
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Microphthalmia, Limba... OMIM:613001
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy, Corpus callosum atrophy OMIM:225740
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Gómez-López-Hernández Syndrome
Short stature, Corneal opacity ORPHA:1532
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Growth delay OMIM:244600
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Corneal opacity, Retinal detachm... ORPHA:2788
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Moderate intrauterine growth retardation, Severe postnatal growth retardation, Decreased corneal ... ORPHA:293967
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Cerebellar atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Astig... OMIM:175780
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Microphthalmia, Keratoconjunctivitis sicca, Keratitis, Corneal neovascu... OMIM:278730
Trisomy 13
Anophthalmia, Intrauterine growth retardation, Optic atrophy, Cataract, Microphthalmia, Aplasia/H... ORPHA:3378
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Microphallus, Decr... OMIM:614840
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Corneal opacity, Intrauterine growth retardation ORPHA:2370
Intestinal Botulism
Mydriasis ORPHA:178481
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Growth delay, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber mo... ORPHA:782
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Trichomegaly
Cataract OMIM:190330
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Cataract, Rod-cone dystrophy, Increased neuronal autofluorescent lipopigment, M... OMIM:204200
Atopic Keratoconjunctivitis
Blepharitis, Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascula... ORPHA:163934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Retinal dysplasia, Optic nerve dysplasia, Opacification of ... OMIM:615287
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Microphthalmia, Short stature, Iris colo... ORPHA:195
Galloway-Mowat Syndrome 1
Cerebral atrophy, Cerebellar atrophy, Intrauterine growth retardation, Small for gestational age,... OMIM:251300
Mucolipidosis Type Iii
Short stature, Corneal opacity, Acne ORPHA:577
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Galactosemia Iv
Cataract OMIM:618881
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Small for gestational age OMIM:212540
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Pyknoachondrogenesis
Stillbirth OMIM:265880
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Wound Botulism
Mydriasis, Cardiac arrest ORPHA:178475
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Miscarriage ORPHA:99927
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Nance-Horan Syndrome
Microphthalmia, Microcornea, Cataract, Retinal detachment ORPHA:627
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Pneumonia, Cataract, Melena, Keratoconjunctivitis, Opacification of the corn... OMIM:158310
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia... OMIM:615145
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Retina... ORPHA:139471
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosialidosis
Opacification of the corneal stroma, Cherry red spot of the macula, Severe short stature, Conjunc... OMIM:256540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Cataract, Small for gestational age ORPHA:85288
Infant Botulism
Cardiac arrest, Hypotension, Keratoconjunctivitis sicca, Mydriasis, Hypertension, Chronic otitis ... ORPHA:178478
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Pigmentary retinopathy, Cataract, Truncal obesity OMIM:268050
Galactosemia Ii
Cataract OMIM:230200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Short stature, Iris coloboma OMIM:610023
Von Hippel-Lindau Syndrome
Epididymal cyst, Multiple renal cysts, Papillary cystadenoma of the epididymis, Pancreatic cysts,... OMIM:193300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Phth... ORPHA:91495
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Sialidosis Type 2
Umbilical hernia, Abnormal macular morphology, Short stature, Corneal opacity ORPHA:87876
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Short stature, Weight loss, Skin rash ORPHA:317
Warburg Micro Syndrome 1
Cerebral atrophy, Developmental cataract, Microcornea, Microphthalmia, Failure to thrive, Short s... OMIM:600118
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Failure to thrive, Cataract ORPHA:2278
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Nail-Patella Syndrome
Microcornea, Cataract, Glomerulonephritis, Antecubital pterygium, Spina bifida, Short stature, Le... OMIM:161200
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Cataract, Optic nerve dysplasia, Pigmentary retinopathy, Failure... OMIM:614866
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cataract, Optic nerve dysplasia, Pigmentary retinopathy, Failure... OMIM:214110
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Dubowitz Syndrome
Intrauterine growth retardation, Hypoplasia of the iris, Eczema, Rod-cone dystrophy, Microphthalm... OMIM:223370
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Dwarfism With Stiff Joints And Ocular Abnormalities
Severe short stature, Disproportionate short-limb short stature, Cataract, Retinal detachment OMIM:127200
Nathalie Syndrome
Abnormal EKG, Cataract, Growth delay OMIM:255990
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Aniridia 2
Cataract, Aniridia OMIM:617141
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Short stature OMIM:300915
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Bradycardia, Kerato... ORPHA:542306
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration, Aortic regurgitation, Hyperopic astigmatism, Short stature, Op... OMIM:252600
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Kniest Dysplasia
Vitreoretinopathy, Rhegmatogenous retinal detachment, Cataract, Retinal detachment, Aplasia/Hypop... ORPHA:485
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Oligoarticular Juvenile Idiopathic Arthritis
Band keratopathy, Uveitis, Severe postnatal growth retardation, Knee osteoarthritis, Cataract, Rh... ORPHA:85410
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Meier-Gorlin Syndrome 8
Renal hypoplasia, Intrauterine growth retardation, Ptosis OMIM:617564
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Inhalational Botulism
Mydriasis ORPHA:254504
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Short stature, Aortic valve stenosis, Aortic regurgitation OMIM:252605
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Cataract, Iris coloboma ORPHA:171860
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Intrauterine growth retardation, Cataract, Cardiomyopathy, Brain atrophy OMIM:616647
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Cockayne Syndrome B
Cerebral atrophy, Developmental cataract, Intrauterine growth retardation, Small for gestational ... OMIM:133540
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Hypoplasia of the iris, Hypopigmentation of the fundus, Blue irides, Ocular... OMIM:611584
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Abnormality of the epididymis, Flexion contracture OMIM:613330
Cataract 42
Developmental cataract OMIM:115900
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Hypertension, Retinal dystrophy ORPHA:3156
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Rhinitis, Short stature, Cardiomyopathy ORPHA:93476
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microcornea, Cataract, Microphthalmia, Short stature, Cerebral c... ORPHA:48431
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Cystinosis, Nephropathic
Retinopathy, Cerebral atrophy, Failure to thrive in infancy, Growth delay, Corneal crystals, Pigm... OMIM:219800
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Growth delay, Short stature, Mydriasis, Optic disc pallor, Facial palsy, Optic ... OMIM:259720
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Exocrine pancreatic insufficiency, Renal cyst, Pancreatic hypoplasia, Atretic va... OMIM:137920
3-Methylglutaconic Aciduria, Type Viib
Cerebral atrophy, Cataract, Cerebellar atrophy, Growth delay OMIM:616271
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia, Hypoplasia of the iris ORPHA:169090
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Abnormal retinal v... ORPHA:2119
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly, Primary congenital glaucoma, Buphthalmos ORPHA:521445
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Obesi... OMIM:616188
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Juvenile Nephropathic Cystinosis
Hypovolemia, Abnormal cornea morphology, Growth delay, Corneal crystals, Failure to thrive ORPHA:411634
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Focal Dermal Hypoplasia
Chorioretinal coloboma, Hypoplasia of the iris, Ectopia lentis, Corneal opacity, Microphthalmia, ... ORPHA:2092
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Intrauterine growth retardation, Truncal obesity, Short stature, Rieger an... OMIM:270450
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Congestive heart failure, Cataract, Hypertrophic cardiomyopathy, Macular... ORPHA:225
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short stature, Cataract OMIM:300261
Microtriplication 11Q24.1
Keratoconus, Short stature, Obesity ORPHA:289522
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Obesity, Microphthalmia, Aniridia, Iris coloboma ORPHA:251038
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Narrow palpebral fissure, Neona... OMIM:236500
Serotonin Syndrome
Abnormality of the autonomic nervous system, Hypotension, Mydriasis, Hypertension, Tachycardia ORPHA:43116
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Short stature, Small for gestational age OMIM:215250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Rhizomelia, Microphthalmia, Ectopia pupillae OMIM:615877
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic disc hypoplasia, Short stature, Keratoconus, Optic atrophy ORPHA:401777
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Cataract, Failure to thrive, Corpus callosum atrophy, Retinal dystroph... OMIM:614877
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Short stature, Failure to thrive, Keratoconus, Conjunctivitis OMIM:242150
17Q11.2 Microduplication Syndrome
Short stature, Macroorchidism ORPHA:139474
Anterior Segment Dysgenesis 1
Microcornea, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of the corneal str... OMIM:107250
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Kid Syndrome
Punctate keratitis, Recurrent cutaneous fungal infections, Recurrent bacterial skin infections, R... ORPHA:477
Marfan Syndrome
Hypoplasia of the iris, Slender build, Congestive heart failure, Retinal detachment, Lens subluxa... ORPHA:558
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Global brain atrophy, Cataract, Retinal detachment, Remnants of ... ORPHA:2714
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Cataract, Astigmatism, Retinal detachment, Short stature ORPHA:250984
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Small for gestational age, Severe short stature, Pig... OMIM:275400
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:1777
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Partington Syndrome
Macroorchidism ORPHA:94083
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic cardiomyopath... ORPHA:496790
Adams-Oliver Syndrome 2
Microphthalmia, Cerebral atrophy, Developmental cataract, Optic atrophy OMIM:614219
Trisomy 12P
Short stature, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye ORPHA:1699
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Microcornea, Optic disc hypoplasia, Abnormal pupil... ORPHA:233
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Walker-Warburg Syndrome
Anophthalmia, Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea... ORPHA:899
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Intrauterine growth retardation, Small for gestational age, Cataract, Gro... OMIM:610756
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short stature, Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Inguinal hernia, Congenital posterior urethral valve... OMIM:136140
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Developmental cataract ORPHA:1383
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Optic atrophy, Abn... ORPHA:585
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy OMIM:614879
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Short stature, Retin... OMIM:610125
Lissencephaly, X-Linked, 1
Agyria, Micropenis, Gray matter heterotopia, Lissencephaly, Pachygyria, Postnatal growth retardation OMIM:300067
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Severe short stature, Abnormality of retinal pigmentation, Rhizomelia, Corneal ... ORPHA:85167
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Pneumonia, Aortic regurgitation, Cataract, Corneal opacity, Optic disc pallor... ORPHA:309288
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Anophthalmia, Umbilical hernia, Corneal dystrophy, Abnormalit... ORPHA:1101
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Nephroblastoma
Aniridia, Hypertension, Weight loss ORPHA:654
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Short stature, Band keratopathy, Cataract, Growth delay OMIM:604278
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