Gene Summary

Name:
keratin 80
Synonyms:
1200016G03Rik,  Kb20,  2310041I20Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Krt80em1(IMPC)J HOM Late adult 5.68×10-22
corneal opacity Krt80em1(IMPC)J HOM Late adult 1.37×10-06
abnormal lens morphology Krt80em1(IMPC)J HOM   Late adult 7.36×10-06
persistence of hyaloid vascular system Krt80em1(IMPC)J HOM Early adult 5.21×10-05
increased vertical activity Krt80em1(IMPC)J HOM Late adult 3.44×10-09
decreased circulating glucose level Krt80em1(IMPC)J HOM Late adult 6.96×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Krt80 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 Krt80 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Progressive cerebellar ataxia, Corneal dystrophy, Ataxia ORPHA:3177
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Dermoids Of Cornea
Corneal opacity OMIM:304730
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 8
Hyperactivity OMIM:615401
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy, Spastic ataxia OMIM:271320
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Morquio Syndrome C
Corneal opacity OMIM:252300
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Galactosialidosis
Corneal opacity ORPHA:351
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Morm Syndrome
Hyperactivity, Cataract ORPHA:75858
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Winchester Syndrome
Corneal opacity OMIM:277950
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder, F... ORPHA:35878
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Gait disturbance, Keratoconus, Keratoglobus, Sclerocornea, Decreased c... OMIM:614170
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Attention deficit hypera... OMIM:152950
Erythrokeratodermia Variabilis
Corneal opacity, Cataract, Diabetes mellitus ORPHA:317
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Developmental And Epileptic Encephalopathy 104
Hyperactivity OMIM:619970
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Cataract, Blue irides OMIM:261600
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Harel-Yoon Syndrome
Corneal opacity, Inability to walk, Developmental cataract, Ataxia OMIM:617183
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Cataract ORPHA:67048
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Congenital Rubella Syndrome
Type I diabetes mellitus, Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Sialidosis Type 2
Corneal opacity, Ataxia ORPHA:87876
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Inability to walk OMIM:166300
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Alpha-Mannosidosis
Corneal opacity, Type II diabetes mellitus, Cataract ORPHA:61
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Unsteady gait OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Iris hypopigmentation, Ataxia, Hyperactivity ORPHA:411515
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Opacification of the corneal stro... OMIM:256800
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity OMIM:615924
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Corneal opacity, Gait ataxia, Cataract ORPHA:496790
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Aniridia 1
Glucose intolerance, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal s... OMIM:106210
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Sialidosis Type 1
Gait disturbance, Corneal opacity, Cataract, Ataxia ORPHA:812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia ORPHA:248111
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Scheie Syndrome
Corneal opacity OMIM:607016
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Juvenile Sialidosis Type 2
Loss of ambulation, Corneal opacity, Ataxia, Dysmetria, Cataract ORPHA:93399
Fish-Eye Disease
Corneal opacity ORPHA:79292
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Athetosis ORPHA:382
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma, Chorioretinal ... OMIM:120200
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity OMIM:612716
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Cystinosis
Gait disturbance, Corneal opacity, Type I diabetes mellitus ORPHA:213
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract, Ataxia ORPHA:309288
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Mend Syndrome
Hyperactivity, Cataract OMIM:300960
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Congenital Sialidosis Type 2
Corneal opacity, Ataxia, Dysmetria, Cataract, Developmental cataract ORPHA:93400
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Blue irides, Diabetes mellitus OMIM:614613
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Tyrosinemia Type 2
Corneal opacity, Ataxia ORPHA:28378
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Gomez-Lopez-Hernandez Syndrome
Ataxia, Opacification of the corneal stroma, Hyperactivity OMIM:601853
Lcat Deficiency
Corneal opacity ORPHA:650
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Familial Dysautonomia
Corneal opacity, Ataxia, Abnormal pupil morphology, Gait disturbance, Corneal erosion, Heterochro... ORPHA:1764
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation, Cataract ORPHA:2719
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Unsteady... ORPHA:228360
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypoglycemia OMIM:617600
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Zellweger Syndrome
Corneal opacity, Cataract, Brushfield spots, Posterior embryotoxon ORPHA:912
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Ocular Cystinosis
Corneal crystals ORPHA:411641
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Multiple Sulfatase Deficiency
Corneal opacity, Cataract ORPHA:585
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Gm1 Gangliosidosis
Gait disturbance, Corneal opacity, Unsteady gait, Ataxia ORPHA:354
Scheie Syndrome
Corneal opacity ORPHA:93474
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia OMIM:272200
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Astigmatism OMIM:301056
Mucopolysaccharidosis Type 4
Gait disturbance, Corneal opacity ORPHA:582
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Incontinentia Pigmenti
Keratitis, Corneal opacity, Gait disturbance, Attention deficit hyperactivity disorder, Cataract ORPHA:464
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Wilson Disease
Difficulty walking, Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis Type 3
Loss of ambulation, Corneal opacity, Ataxia, Hyperactivity, Opacification of the corneal stroma, ... ORPHA:581
Sanjad-Sakati Syndrome
Corneal opacity, Astigmatism ORPHA:2323
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Oculoectodermal Syndrome
Hyperactivity, Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism OMIM:600268
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Fucosidosis
Corneal opacity ORPHA:349
Histidinemia
Hyperactivity ORPHA:2157
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Buphthalmos, Attention deficit hyperactivity disorder, Corneal... ORPHA:495875
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... OMIM:612582
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Corneal opacity, Attention deficit hyperactivity disorder, Astigmatism ORPHA:464311
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
De Barsy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Cataract, Athetosis ORPHA:2962
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Corneal opacity, Hyperactivity, Astigmatism ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Multicentric Osteolysis, Nodulosis, And Arthropathy
Gait disturbance, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Histiocytoid Cardiomyopathy
Hypoglycemia, Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract OMIM:158310
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Focal Dermal Hypoplasia
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Inability to walk ORPHA:488632
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Ataxia, Cataract, Astigmatism ORPHA:309282
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
3Mc Syndrome 3
Corneal opacity OMIM:248340
Neurofibromatosis Type 1
Corneal opacity, Ataxia, Lisch nodules, Cataract, Attention deficit hyperactivity disorder, Heter... ORPHA:636
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Waddling gait, Astigmatism OMIM:242900
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Dysmetria, Athetosis OMIM:615273
Hurler Syndrome
Corneal opacity ORPHA:93473
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Legius Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Cataract ORPHA:137605
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus, Attention deficit... ORPHA:534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Megalocornea, Posterior subcapsular cataract, Iris coloboma ORPHA:536471
Peroxisome Biogenesis Disorder 1A (Zellweger)
Loss of ambulation, Opacification of the corneal stroma, Cataract, Brushfield spots, Unsteady gait OMIM:214100
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Waddling gait OMIM:253000
Moebius Syndrome
Corneal opacity ORPHA:570
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract ORPHA:1052
Mucopolysaccharidosis Type 2
Corneal opacity, Hyperactivity ORPHA:580
Linear Skin Defects With Multiple Congenital Anomalies 1
Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Lathosterolosis
Opacification of the corneal stroma, Cataract, Microcornea ORPHA:46059
Williams Syndrome
Flat cornea, Gait imbalance, Corneal opacity, Ataxia, Type II diabetes mellitus, Blue irides, Dys... ORPHA:904
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Ataxia OMIM:251300
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Cataract OMIM:274000
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Larsen Syndrome
Corneal opacity OMIM:150250
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity OMIM:620047
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Tangier Disease
Corneal opacity ORPHA:31150
Proboscis Lateralis
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:141099
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Posterior embryotoxon, Sclerocornea ORPHA:2556
Smith-Lemli-Opitz Syndrome
Attention deficit hyperactivity disorder, Iris coloboma, Cataract, Sclerocornea ORPHA:818
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Limb ataxia ORPHA:2072
Chime Syndrome
Corneal opacity ORPHA:3474
Xeroderma Pigmentosum
Keratitis, Ataxia, Conjunctival telangiectasia, Opacification of the corneal stroma, Cataract, Pt... ORPHA:910
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Pierson Syndrome
Retinal hemorrhage, Remnants of the hyaloid vascular system, Retinal detachment, Posterior lentic... OMIM:609049
Osteogenesis Imperfecta
Loss of ambulation, Gait disturbance, Corneal opacity, Ataxia ORPHA:666
Gaucher Disease
Corneal opacity, Ataxia ORPHA:355
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Sclerocornea ORPHA:564
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Wolf-Hirschhorn Syndrome
Iris coloboma, Megalocornea, Sclerocornea, Ataxia ORPHA:280
Wilson Disease
Glycosuria, Kayser-Fleischer ring OMIM:277900
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Corneal ulceration, Corneal opacity, Shuffling gait ORPHA:740
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Astigmatism, Corneal erosion, Conjunctivitis ORPHA:2273
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Peters Plus Syndrome
Corneal opacity, Anterior chamber synechiae, Microcornea, Peters anomaly, Iris coloboma, Cataract ORPHA:709
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Cockayne Syndrome B
Ataxia, Opacification of the corneal stroma, Microcornea, Hypoplasia of the iris, Developmental c... OMIM:133540
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma, Tip-toe gait OMIM:252500
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Type II diabetes mellitus, Ataxia, Truncal ataxia, Cataract ORPHA:3455
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Cockayne Syndrome A
Gait disturbance, Opacification of the corneal stroma, Cataract, Ataxia OMIM:216400
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
Bartsocas-Papas Syndrome 1
Corneal ulceration, Opacification of the corneal stroma, Popliteal pterygium, Axillary pterygium,... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Iris coloboma, Chorioretinal coloboma OMIM:157170
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Opacification of the corneal stroma, Megalocornea, Cataract OMIM:253280
Digeorge Syndrome
Attention deficit hyperactivity disorder, Posterior embryotoxon, Sclerocornea OMIM:188400
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma OMIM:619539
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract OMIM:268300

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 Krt80

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 Krt80.

No publications found that use IMPC mice or data for Krt80.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Krt80em1(IMPC)J Exon Deletion Mice
Krt80tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Krt80tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter