Gene Summary

extended synaptotagmin-like protein 1
vp115,  Mbc2,  Fam62a

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Esyt1em1(IMPC)Hmgu HOM Early adult 4.94×10-09
abnormal tooth morphology Esyt1em1(IMPC)Hmgu HOM Early adult 7.28×10-15
sclerocornea Esyt1em1(IMPC)Hmgu HOM Early adult 2.83×10-05
abnormal iris transillumination Esyt1em1(IMPC)Hmgu HOM Early adult 2.45×10-05

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Esyt1 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 Esyt1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia ORPHA:3177
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... OMIM:614170
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Congenital Primary Aphakia
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma, Delayed eruption of primary teeth, Failur... OMIM:180900
Mucous Membrane Pemphigoid
Gingivitis, Oral mucosal blisters, Corneal opacity ORPHA:46486
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Rodrigues Blindness
Tooth malposition, Sclerocornea, Microcornea OMIM:268320
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Microphthalmia With Brain And Digit Anomalies
High palate, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea ORPHA:139471
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Corneal opacity, Microcornea ORPHA:2432
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, High palate, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea, Abnormality o... ORPHA:1806
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
8Q21.11 Microdeletion Syndrome
High palate, Iris hypopigmentation, Micrognathia, Short philtrum, Cataract, Narrow mouth, Downtur... ORPHA:284160
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
3Q29 Microduplication Syndrome
High palate, Deep philtrum, Aniridia, Iris coloboma, Cataract, Cleft palate, Sclerocornea, Abnorm... ORPHA:251038
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Corneal opacity ORPHA:351
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Hypoplasia of the maxilla, Astigmatism, Sclerocornea, Abnormality of the dentition ORPHA:2095
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Winchester Syndrome
Gingival overgrowth, Corneal opacity OMIM:277950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Al-Gazali Syndrome
Micrognathia, Corneal opacity, Sclerocornea OMIM:609465
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Stickler Syndrome Type 2
Cleft palate, Cataract, Corneal opacity ORPHA:90654
Stromme Syndrome
Wide mouth, Micrognathia, Microcornea, Iris coloboma, Peters anomaly, Cataract, Cleft palate, Scl... OMIM:243605
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity, Chorioretinal coloboma, Bilatera... ORPHA:1473
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Chromosome 8Q21.11 Deletion Syndrome
High palate, Micrognathia, Short philtrum, Cataract, Downturned corners of mouth, Cleft palate, E... OMIM:614230
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long philtrum, Microcornea, Cataract, Ectopia pupillae, Sclerocornea OMIM:615877
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation, Abnormality of the dentition OMIM:137600
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Gómez-López-Hernández Syndrome
Thin vermilion border, Corneal opacity, Ataxia ORPHA:1532
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Sclerocornea OMIM:300952
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Van Den Ende-Gupta Syndrome
High palate, Micrognathia, Dental crowding, Everted lower lip vermilion, Hypoplasia of the maxill... OMIM:600920
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Corneal opacity ORPHA:2370
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
2Q24 Microdeletion Syndrome
Short philtrum, Abnormal oral frenulum morphology, Cataract, Cleft palate, Abnormality iris morph... ORPHA:1617
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Short Syndrome
Abnormal pupil morphology, Megalocornea, Abnormal mandible morphology, Posterior embryotoxon, Hyp... ORPHA:3163
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Cleft upper lip, Megalocornea, Hypodontia, Abnormal lip morphology, ... ORPHA:280
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Smith-Lemli-Opitz Syndrome
Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Advanced eruption of teeth, Abnormality of... ORPHA:818
Harel-Yoon Syndrome
Mandibular prognathia, Inability to walk, Micrognathia, Developmental cataract, Ataxia, Corneal o... OMIM:617183
Dental malocclusion, Mandibular prognathia, Narrow palate, Widely spaced teeth, Craniofacial hype... ORPHA:61
Mucolipidosis Type Iii
Cleft palate, Craniofacial hyperostosis, Corneal opacity ORPHA:577
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Long philtrum, Deep philtrum, Thick lower lip vermilion, Microcornea, Asti... OMIM:152950
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Peters anomaly, Cataract, Cleft palate, Sclerocornea OMIM:309801
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the iris, Micrognathia, Abnormal choriore... ORPHA:564
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Bartsocas-Papas Syndrome 2
Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Corneal opacity, Ac... OMIM:619339
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia, Corneal opacity, Inability to walk OMIM:166300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... ORPHA:3214
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Obtuse angle of mandible, Megalocornea, Corneal opacity ORPHA:2741
Mucolipidosis Type Iv
Microdontia, Gait disturbance, Ataxia, Everted lower lip vermilion, Corneal opacity ORPHA:578
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Long philtrum, Wide mouth, Micrognathia, Oligodontia, Corneal opacity, Smooth phi... OMIM:602562
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Neurocardiofaciodigital Syndrome
Retrognathia, High palate, Cataract, Thin vermilion border, Sclerocornea OMIM:619869
Usher Syndrome Type 2
Iris hypopigmentation, Microdontia, Ataxia, Cataract, Carious teeth, Abnormality of dental color,... ORPHA:231178
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Juvenile cataract, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Mandibular aplasia, Posterior embryotoxon, Micrognathia, Corneal opacity, Chorioret... ORPHA:2556
Phace Syndrome
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea ORPHA:42775
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Isolated Ectopia Lentis
Mandibular prognathia, Ectopia lentis, Cataract, Ectopia pupillae, Malar flattening ORPHA:1885
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Enamel hypoplasia, Carious teeth, Oral mucosal blisters OMIM:226650
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity, Chorioretinal coloboma ORPHA:137902
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Gait disturbance OMIM:271630
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Gingival overgrowth, Subepithelial corneal opacities OMIM:221800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Micrognathia, Downturned corners of mouth, Corneal opacity, Aniridia ORPHA:1064
Norrie Disease
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... ORPHA:649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Mandibular prognathia, Spastic gait, Micrognathia, Cataract, Corneal opacity ORPHA:496790
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Scheie Syndrome
Mandibular prognathia, Corneal opacity OMIM:607016
Yunis-Varon Syndrome
Gingival recession, Short upper lip, Broad secondary alveolar ridge, Micrognathia, Premature loss... ORPHA:3472
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Micrognathia, Anterior synechiae of the anterior c... ORPHA:96125
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Enamel hypoplasia OMIM:270200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Oculomaxillofacial Dysostosis
Micrognathia, Median cleft lip, Corneal opacity, Cleft palate, Abnormality of the dentition ORPHA:1794
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Mucopolysaccharidosis Type 4
Wide mouth, Grayish enamel, Gait disturbance, Corneal opacity, Carious teeth, Abnormality of the ... ORPHA:582
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Hypod... OMIM:602482
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Microdontia, Anterior chamber synechiae, Hypodontia, Short philtrum, Micro... OMIM:601499
Juvenile Sialidosis Type 2
Ataxia, Dysmetria, Cataract, Protruding tongue, Corneal opacity, Loss of ambulation, Gingival ove... ORPHA:93399
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Tyrosinemia Type 2
Malar flattening, Corneal opacity, Ataxia ORPHA:28378
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Sialidosis Type 2
Corneal opacity, Ataxia ORPHA:87876
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Developmental glaucoma, Megalocornea, Delayed eruption of primary teeth... ORPHA:2409
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Sialidosis Type 1
Thick lower lip vermilion, Gait disturbance, Ataxia, Cataract, Corneal opacity ORPHA:812
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Opacification of the corneal stroma, Megalocornea OMIM:164900
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Astigmatism, Cat... OMIM:618727
Digeorge Syndrome
High palate, Posterior embryotoxon, Micrognathia, Bifid uvula, Short philtrum, Recurrent sinusiti... OMIM:188400
Microphthalmia, Syndromic 6
Retrognathia, High palate, Micrognathia, Bifid uvula, Microcornea, Microglossia, Cleft palate, Sc... OMIM:607932
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Iris hypopigmentation, Microdontia, Ataxia, Cataract, Narrow mout... ORPHA:2719
Wagro Syndrome
Mandibular prognathia, Micrognathia, Dental crowding, Cataract, Corneal opacity, Malar flattening... OMIM:612469
Bartsocas-Papas Syndrome
Micrognathia, Median cleft lip, Popliteal pterygium, Narrow mouth, Corneal opacity, Cleft palate ORPHA:1234
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Enamel hypoplasia, Cataract, Carious teeth, Keratitis OMIM:612843
Megalocornea-Intellectual Disability Syndrome
Megalocornea, High palate, Hypoplasia of the iris, Micrognathia, Short philtrum, Ataxia, Everted ... ORPHA:2479
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity, Conical primary incisor OMIM:602400
Facial Spasm
Anisocoria OMIM:134300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low... ORPHA:364577
Autosomal Recessive Cutis Laxa Type 2A
Long philtrum, Inability to walk, Ataxia, Abnormal cornea morphology, Corneal opacity, Athetosis ORPHA:357058
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Ataxia, Corneal opacity, ... OMIM:253010
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Sanjad-Sakati Syndrome
Long philtrum, Micrognathia, Astigmatism, Corneal opacity, Thin vermilion border, Abnormality of ... ORPHA:2323
Fish-Eye Disease
Corneal opacity ORPHA:79292
Scheie Syndrome
Everted lower lip vermilion, Corneal opacity, Wide mouth, Thick vermilion border ORPHA:93474
Dyschondrosteosis-Nephritis Syndrome
Microdontia, Corneal opacity ORPHA:1765
Abnormal pupil morphology, Median cleft lip, Microcornea, Iris coloboma, Cleft palate ORPHA:3374
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Ataxia, Macroglossia ORPHA:309288
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Congenital Sialidosis Type 2
Developmental cataract, Ataxia, Cataract, Protruding tongue, Dysmetria, Corneal opacity, Gingival... ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Zellweger Syndrome
Brushfield spots, High palate, Posterior embryotoxon, Micrognathia, Abnormal chorioretinal morpho... ORPHA:912
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Retrognathia, Dental malocclusion, Phakodonesis, High palate, Anterior synechiae of the anterior ... OMIM:601552
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Gait disturbance, Ataxia, Heterochromia iridis, Corne... ORPHA:1764
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ... ORPHA:50814
Walker-Warburg Syndrome
Bifid uvula, Submucous cleft hard palate, Microcornea, Iris coloboma, Cataract, Corneal opacity, ... ORPHA:899
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Megalocornea-Mental Retardation Syndrome
Megalocornea, High palate, Long philtrum, Hypoplasia of the iris, Micrognathia, Bifid uvula, Atax... OMIM:249310
Trisomy 9P
Abnormal pupil morphology, Non-midline cleft lip, Downturned corners of mouth, Dental crowding, I... ORPHA:236
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Yunis-Varon Syndrome
Short upper lip, High palate, Micrognathia, Premature loss of primary teeth, Hypoplastic facial b... OMIM:216340
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Oculodentodigital Dysplasia
Non-midline cleft lip, Mandibular prognathia, Micrognathia, Broad alveolar ridges, Taurodontia, P... ORPHA:2710
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity, Chorioretinal coloboma OMIM:120200
Gm1 Gangliosidosis
Mandibular prognathia, Long philtrum, Gait disturbance, Macroglossia, Ataxia, Narrow mouth, Corne... ORPHA:354
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ocular Cystinosis
Corneal crystals ORPHA:411641
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... ORPHA:209959
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity, Wide mouth, Orofacial cleft ORPHA:1647
Incontinentia Pigmenti
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Gait disturbance, Abnorm... ORPHA:464
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color, Corneal opacity OMIM:163200
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Gait disturbance, Corneal opacity ORPHA:213
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Microdontia, Everted lower lip vermi... ORPHA:570
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... OMIM:608670
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Micrognathia, Gait disturbance, Peripheral opacification of the cornea... OMIM:259600
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Hurler-Scheie Syndrome
Micrognathia, Corneal opacity, Thick vermilion border OMIM:607015
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology ORPHA:250999
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Corneal pterygium, Symblepharon, Amelogenesis imperfecta OMIM:245660
Lcat Deficiency
Corneal opacity ORPHA:650
Coats Disease
Leukocoria OMIM:300216
Focal Dermal Hypoplasia
Hypoplasia of the iris, Abnormality of dental morphology, Ectopia lentis, Iris coloboma, Tooth ag... ORPHA:2092
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Smooth philtrum ORPHA:585
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypodontia, Astigmatism, Retrognathia, Corneal opacity OMIM:301056
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Gait imbalance, Inability to walk, Gait disturbance, Steppage gait, Di... ORPHA:90658
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... OMIM:256800
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Macroglossia, Abnormality iris morphology ORPHA:370959
De Barsy Syndrome
High palate, Delayed eruption of teeth, Cataract, Narrow mouth, Corneal opacity, Small, conical t... ORPHA:2962
Proteus-Like Syndrome
Abnormal pupil morphology, Mandibular prognathia, Limbal dermoid, Cataract, Heterochromia iridis,... ORPHA:2969
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, Bu... ORPHA:534
Fryns Syndrome
Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Micrognathia, Median cleft lip, Te... ORPHA:2059
Premature Aging Syndrome, Penttinen Type
Retrognathia, Delayed eruption of teeth, Micrognathia, Narrow philtrum, Corneal stromal edema, Hy... OMIM:601812
Corneal opacity, Abnormality of the dentition ORPHA:349
Proboscis Lateralis
Abnormal paranasal sinus morphology, High palate, Long philtrum, Abnormal ethmoid bone morphology... ORPHA:141099
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Schimke Immuno-Osseous Dysplasia
Hypodontia, Microdontia, Abnormality of primary molar morphology, Corneal opacity ORPHA:1830
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Chime Syndrome
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Supernumerary tooth, C... ORPHA:3474
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia OMIM:272200
Mucopolysaccharidosis Type 1
Widely spaced teeth, Thick lower lip vermilion, Microdontia, Everted lower lip vermilion, Sinusit... ORPHA:579
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Long philtrum, Inability to walk, Macroglossia, Corneal opacity, Tented up... ORPHA:488632
Hurler Syndrome
Microdontia, Macroglossia, Corneal opacity, Opacification of the corneal stroma, Gingival overgro... OMIM:607014
Wilson Disease
Kayser-Fleischer ring, Difficulty walking ORPHA:905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Megalocornea, Micrognathia, Buphthalmos, Cataract, Peters anomaly, Corneal opaci... OMIM:236670
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Mucopolysaccharidosis, Type Vii
Gingival overgrowth, Corneal opacity, Widely spaced teeth, Macroglossia OMIM:253220
Kindler Epidermolysis Bullosa
Conjunctivitis, Gingivitis, Periodontitis, Premature loss of primary teeth, Corneal opacity, Cari... ORPHA:2908
Mosaic Trisomy 8
Micrognathia, High palate, Corneal opacity, Cleft palate ORPHA:96061
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Macroglossia, Ataxia, Gait disturbance, Cataract, Loss of ambulation, ... ORPHA:581
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Long philtrum, Micrognathia, Keratoconjunctivitis sicca, Tented philtrum, Buphthalmos, Corneal op... ORPHA:495875
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
3Mc Syndrome 3
Cleft palate, Cleft upper lip, Corneal opacity OMIM:248340
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Mandibular prognathia, Wide mouth, Oligodontia, Iris atrophy, Cleft palate, Mala... OMIM:201180
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Abnormality of the sphenoid sinus, Widely spaced teeth, Macroglossia, Atax... ORPHA:309282
Dyggve-Melchior-Clausen Disease
Difficulty walking, Corneal opacity, Inability to walk ORPHA:239
Ablepharon Macrostomia Syndrome
Corneal erosion, Wide mouth, Microdontia, Hypoplasia of the maxilla, Corneal opacity, Hypoplasia ... ORPHA:920
Mosaic Trisomy 9
Micrognathia, High palate, Corneal opacity, Cleft palate ORPHA:99776
Spondylodysplastic Ehlers-Danlos Syndrome
Megalocornea, Long philtrum, Micrognathia, Abnormality of the temporomandibular joint, Posterior ... ORPHA:536471
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Oral mucosal blisters, Corneal opacity, Smooth tongue ORPHA:79396
Farber Disease
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma ORPHA:333
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Gait dis... ORPHA:666
Mucopolysaccharidosis, Type Vi
Carious teeth, Macroglossia, Corneal opacity, Delayed eruption of teeth OMIM:253200
Hurler Syndrome
Everted lower lip vermilion, Thick vermilion border, Corneal opacity, Macroglossia ORPHA:93473
Hutchinson-Gilford Progeria Syndrome
Retrognathia, High palate, Shuffling gait, Delayed eruption of teeth, Short lingual frenulum, Hyp... ORPHA:740
Williams Syndrome
Aplasia/Hypoplasia of the iris, Microdontia, Micrognathia, Everted lower lip vermilion, Blue irid... ORPHA:904
Congenital Disorder Of Deglycosylation 1
Dysmetria, Corneal opacity, Open mouth, Athetosis, Corneal ulceration OMIM:615273
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... OMIM:175780
Larsen Syndrome
Cleft upper lip, Hypodontia, Corneal opacity, Cleft palate, Malar flattening OMIM:150250
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Craniofacial hyperostosis, Corneal opacity ORPHA:2396
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Gait disturbance, Corneal opacity ORPHA:464311
Histiocytoid Cardiomyopathy
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Thick... ORPHA:79280
Pierson Syndrome
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... OMIM:609049
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Cataract, Corneal opacity, Cleft palate ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Gait disturbance, Corneal opacity ORPHA:464306
Peters Plus Syndrome
Cleft upper lip, Long philtrum, Wide mouth, Widely spaced teeth, Micrognathia, Anterior chamber s... ORPHA:709
Mucopolysaccharidosis Type 2, Severe Form
Temporomandibular joint ankylosis, Abnormality of dental morphology, Macroglossia, Corneal opacit... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Temporomandibular joint ankylosis, Abnormality of dental morphology, Macroglossia, Corneal opacit... ORPHA:217093
Fabry Disease
Thick lower lip vermilion, Cataract, Conjunctival telangiectasia, Corneal opacity, Corneal dystrophy ORPHA:324
Neurofibromatosis Type 1
Ataxia, Cataract, Heterochromia iridis, Corneal opacity, Chorioretinal coloboma, Lisch nodules ORPHA:636
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Cataract, Corneal opacity, Malar flattening, Cleft palate OMIM:274000
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity, Cleft lip, Cleft palate ORPHA:2369
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Conjunctivitis, Corneal erosion, Uveitis, Astigmatism, Corneal opacity, Keratitis, Cheilitis, Abn... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Natal tooth, Truncal ataxia, Hypodontia, Short philtrum, Ataxia, Submucous cleft so... ORPHA:3455
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, High, narrow palate, Abnormality iris morphology ORPHA:91387
Mucopolysaccharidosis Type 2
Temporomandibular joint ankylosis, Macroglossia, Corneal opacity, Gingival overgrowth, Thick verm... ORPHA:580
Fraser Syndrome 1
Difficulty in tongue movements, Cleft upper lip, Dental malocclusion, Dental crowding, Corneal op... OMIM:219000
Tangier Disease
Corneal opacity ORPHA:31150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Corneal opacity, Broad-based gait ORPHA:2072
Gaucher Disease
Gingival bleeding, Corneal opacity, Ataxia ORPHA:355
Roberts-Sc Phocomelia Syndrome
Cleft upper lip, High palate, Micrognathia, Hyperplasia of the maxilla, Cataract, Corneal opacity... OMIM:268300
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Wilson Disease
Kayser-Fleischer ring OMIM:277900


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 Esyt1

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 Esyt1.

No publications found that use IMPC mice or data for Esyt1.

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MGI Allele Allele Type Produced
Esyt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Esyt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Esyt1em1(IMPC)Hmgu Exon Deletion Mice
Esyt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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