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Gene: Klhl20 MGI:2444855

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kelch-like 20
Synonyms:
D930050H05Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Klhl20 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 Klhl20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Nondisjunction
Decreased fertility OMIM:158250
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Vernal Keratoconjunctivitis
Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza... ORPHA:70476
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Lattice Corneal Dystrophy Type I
Red eye, Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opaciti... ORPHA:98964
Morquio Syndrome C
Corneal opacity OMIM:252300
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Winchester Syndrome
Corneal opacity OMIM:277950
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj... OMIM:278730
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization OMIM:617388
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ... OMIM:158310
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... OMIM:618815
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... OMIM:616188
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e... OMIM:270200
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Cerebral h... OMIM:175780
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Kid Syndrome
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Punctate keratitis, Keratocon... ORPHA:477
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,... OMIM:615145
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Sialidosis Type 2
Abnormal macular morphology, Corneal opacity ORPHA:87876
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Corneal opacity OMIM:613153
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Retinal dystrophy, Decreas... OMIM:618175
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Corneal scarring, Corneal neovascularization, Cone/cone-ro... ORPHA:404454
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology OMIM:219750
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Cherry red spot of the macula OMIM:256540
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal EKG, Cherry red spot of the macula, Telangiectasia, Hypoplasia ... ORPHA:93400
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Sialidosis Type 1
Cherry red spot of the macula, Cataract, Retinopathy, Corneal opacity ORPHA:812
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Cherry red spot of the macula OMIM:230650
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Chorioretinal dysplasia, R... ORPHA:899
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Optic disc pallor, Corneal opacity ORPHA:309288
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
22Q11.2 Deletion Syndrome
Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Optic atrophy, Retinal arteriolar tor... ORPHA:567
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Cataract, Optic atrophy, Corneal opacity ORPHA:93399
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:585
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Lcat Deficiency
Corneal opacity ORPHA:650
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... OMIM:256800
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal ... ORPHA:1764
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Macular atrophy, Abnormality of retinal pigmentation, Cone/co... ORPHA:85167
Cystinosis
Portal hypertension, Retinopathy, Corneal opacity ORPHA:213
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity OMIM:607015
Zellweger Syndrome
Cataract, Optic atrophy, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chori... ORPHA:912
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Developmental cataract, Corneal opacity OMIM:616603
Wagro Syndrome
Cataract, Aniridia, Hypertension, Corneal opacity OMIM:612469
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Corneal opacity ORPHA:423461
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac... OMIM:608940
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Multiple Sulfatase Deficiency
Retinal degeneration, Corneal opacity OMIM:272200
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Megalocorn... ORPHA:137675
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Abnormal left ventricular function, Pulmonic stenosis, Optic nerve ... OMIM:301056
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ... OMIM:243605
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Corneal neovascularization, Recurrent corneal erosions, Opacification of the corneal s... OMIM:308205
Gm1 Gangliosidosis
Optic atrophy, Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Retinopat... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Megalocornea, Retinal atrophy, Retinal detachment, Corne... OMIM:236670
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Retinal vascular proliferation,... ORPHA:464
Fabry Disease
Cataract, Atrioventricular block, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:324
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Farber Disease
Macular degeneration, Cherry red spot of the macula, Corneal opacity, Opacification of the cornea... ORPHA:333
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity OMIM:253010
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Sclerocornea, Ventr... OMIM:300952
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity ORPHA:2719
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Retinopathy, Retinal degeneration, Severely reduced left ve... OMIM:252600
Fucosidosis
Corneal opacity ORPHA:349
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Retinal degeneration, Corneal opacity... OMIM:607014
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Axenfeld anomaly, Telangiectasia, Posterior embryotoxon, ... OMIM:612582
Tangier Disease
Opacification of the corneal stroma, Myocardial infarction OMIM:205400
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Mucopolysaccharidosis Type 1
Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Retinopathy, Corneal opacity ORPHA:579
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma OMIM:252605
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve dysplasia, Bru... OMIM:214110
Hurler Syndrome
Cardiomyopathy, Retinopathy, Angina pectoris, Corneal opacity, Hypertension ORPHA:93473
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Opacification of the corneal stroma, Telangiectasia of the oral mucos... ORPHA:79280
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Pigmentary retinopathy, Peters anomaly, Histiocytoid ca... OMIM:309801
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Telangiectasia of the skin, Corne... ORPHA:2092
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Pigmentary retinopathy OMIM:614230
Mucopolysaccharidosis Type 3
Cataract, Atrioventricular block, Pigmentary retinopathy, Optic atrophy, Reduced left ventricular... ORPHA:581
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral stenosis, Mitral regurgitation... OMIM:253200
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ... ORPHA:42775
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Hypermyelinated retinal nerve fibers, Corneal opacity OMIM:601812
3Mc Syndrome 3
Corneal opacity OMIM:248340
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Retinal detachment, Corneal opacity, Op... ORPHA:464311
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
De Barsy Syndrome
Cataract, Abnormal fundus fluorescein angiography, Corneal opacity ORPHA:2962
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Retinopathy, Pulmonary arterial hypertension, Corneal opacity, Iris coloboma ORPHA:2396
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Mitral regurgitation, Astigmatism, Corneal opacity, Optic disc pa... ORPHA:309282
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Cerebral ischemia, Astigmatism, Pulmonary arterial hypertension, Opaci... OMIM:242900
Mucopolysaccharidosis Type 2
Optic atrophy, Cardiomyopathy, Retinopathy, Abnormality of retinal pigmentation, Retinal degenera... ORPHA:580
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Cardiomyopathy, Retinopathy, Abnormality of retinal pigmentation, Arrhythmia, Abno... ORPHA:217085
Tbck-Related Intellectual Disability Syndrome
Pulmonic stenosis, Corneal opacity ORPHA:488632
Oculoectodermal Syndrome
Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, Chorioretinal a... OMIM:600268
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Corneal... ORPHA:536471
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity, Optic disc pallor ORPHA:464306
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Cardiomyopathy, Retinopathy, Abnormality of retinal pigmentation, Arrhythmia, Abno... ORPHA:217093
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Proboscis Lateralis
Cataract, Microcornea, Nasolacrimal duct obstruction, Chorioretinal coloboma, Optic disc coloboma... ORPHA:141099
Carpenter Syndrome 1
Optic atrophy, Microcornea, Opacification of the corneal stroma, Pulmonic stenosis OMIM:201000
Moebius Syndrome
Corneal opacity ORPHA:570
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Optic nerve hypoplasia ORPHA:495875
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Tangier Disease
Corneal opacity ORPHA:31150
Chime Syndrome
Retinal coloboma, Corneal opacity ORPHA:3474
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Pigmentary retinopathy, Optic atrophy, Tricuspid regurgitation, O... OMIM:614866
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Microphthalmia, Syndromic 3
Sclerocornea, Cataract, Optic nerve aplasia, Optic nerve hypoplasia OMIM:206900
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract, Optic disc pallor OMIM:619869
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic disc pallor, Brushfi... OMIM:214100
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Xeroderma Pigmentosum
Cataract, Optic atrophy, Keratitis, Pterygium, Conjunctival telangiectasia, Telangiectasia, Telan... ORPHA:910
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Meckel Syndrome
Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Sclerocornea, Abnormal chor... ORPHA:564
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at... OMIM:253280
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Neurofibromatosis Type 1
Cataract, Chorioretinal coloboma, Abnormality of retinal pigmentation, Heterochromia iridis, Lisc... ORPHA:636
Larsen Syndrome
Corneal opacity OMIM:150250
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc... ORPHA:740
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Buphthalmos, Chorioretinal dys... ORPHA:534
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Developmental cataract, Cor... ORPHA:90348
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Optic atrophy, Hypoplasia of the iris OMIM:251300
Gaucher Disease
Abnormal macular morphology, Cherry red spot of the macula, Retinopathy, Pulmonary arterial hyper... ORPHA:355
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Peters Plus Syndrome
Cataract, Microcornea, Optic atrophy, Peters anomaly, Corneal opacity, Iris coloboma, Anterior ch... ORPHA:709
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Papilledema, Corneal opacity ORPHA:2072
Wolf-Hirschhorn Syndrome
Optic atrophy, Megalocornea, Retinopathy, Sclerocornea, Iris coloboma ORPHA:280
Williams Syndrome
Cataract, Megalocornea, Hypertrophic cardiomyopathy, Congestive heart failure, Retinal arteriolar... ORPHA:904
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Megalocornea, Mitral... OMIM:252500
Cockayne Syndrome B
Optic atrophy, Microcornea, Pigmentary retinopathy, Hypoplasia of the iris, Arrhythmia, Developme... OMIM:133540
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Cockayne Syndrome A
Optic atrophy, Cataract, Pigmentary retinopathy, Retinal pigment epithelial mottling, Arrhythmia,... OMIM:216400
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma, Optic atrophy ORPHA:818
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Corneal opacity ORPHA:666
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Opacification of the corneal stroma OMIM:601559
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Cataract, Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Corneal opacity, Pulmonic... ORPHA:3455
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring OMIM:277900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Opacification of the corneal stroma, Optic nerve dysplasia OMIM:615287
Yunis-Varon Syndrome
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Renovascular hypertensio... ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea, Retinal dystrophy OMIM:607932
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon OMIM:188400
Yunis-Varon Syndrome
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Heart murmur OMIM:216340

Histopathology

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

There is no histopathology data for Klhl20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Klhl20.

No publications found that use IMPC mice or data for Klhl20.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Klhl20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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