Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Capn15 MGI:1355075

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

calpain 15

Synonyms:

Solh

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 Capn15 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.

Human diseases associated with Capn15 (1 diseases)
Human diseases predicted to be associated with Capn15 (458 diseases)

The table below shows human diseases associated to Capn15 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oculogastrointestinal Neurodevelopmental Syndrome		Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318

The table below shows human diseases predicted to be associated to Capn15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Large for gestational age	ORPHA:2432
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Small for gestational age	OMIM:278780
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Gombo Syndrome	Microphthalmia	OMIM:233270
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Abnormality iris morphology, Microphthalmia, Failure to thrive	ORPHA:1617
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Nanophthalmos	Microphthalmia	ORPHA:35612
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Obesity	OMIM:601794
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Trichomegaly	Cataract	OMIM:190330
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Anencephaly 2	Anophthalmia	OMIM:619452
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Obesity	ORPHA:363741
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Bardet-Biedl Syndrome 18	Cataract, Obesity	OMIM:615995
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Failure to thrive	OMIM:274270
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Cataract	OMIM:613730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Cataract	ORPHA:2278
Galactosemia Iv	Cataract	OMIM:618881
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Biemond Syndrome Type 2	Microphthalmia, Obesity	ORPHA:141333
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract, Failure to thrive in infancy	OMIM:618805
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Small for gestational age, Developmental cataract	OMIM:610756
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Mmep Syndrome	Microphthalmia	ORPHA:3434
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Failure to thrive, Developmental cataract	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Matthew-Wood Syndrome	Microphthalmia, Failure to thrive, Anophthalmia	ORPHA:2470
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Cataract, Childhood-onset truncal obesity	OMIM:610156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract	OMIM:273680
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia	OMIM:617306
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior...	OMIM:221900
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Pierpont Syndrome	Microcornea, Microphthalmia, Small for gestational age	ORPHA:487825
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Cockayne Syndrome Type 2	Anophthalmia, Conjunctivitis, Developmental cataract	ORPHA:90322
Pierpont Syndrome	Microcornea, Microphthalmia, Failure to thrive, Decreased body weight	OMIM:602342
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia With Limb Anomalies	Microphthalmia, Failure to thrive, Anophthalmia	OMIM:206920
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cataract 47	Microcornea, Cataract	OMIM:612018
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro...	ORPHA:91495
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Seckel Syndrome 2	Microphthalmia, Small for gestational age	OMIM:606744
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Galactose Mutarotase Deficiency	Failure to thrive, Cataract	ORPHA:570422
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Congenital Toxoplasmosis	Microphthalmia, Failure to thrive in infancy	ORPHA:858
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Failure to thrive, Cataract	OMIM:612379
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Cockayne Syndrome Type 1	Failure to thrive, Anophthalmia, Conjunctivitis, Cataract	ORPHA:90321
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos	OMIM:615085
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Failure to thrive, Cataract, Small for gestational age	OMIM:214150
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Bresek Syndrome	Neonatal death, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Failure to thrive, Cataract, Developmental cataract	OMIM:616395
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy	ORPHA:1101
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Trisomy 1Q	Anophthalmia	ORPHA:261344
Sandestig-Stefanova Syndrome	Microphthalmia, Small for gestational age, Developmental cataract	OMIM:618804
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Ring Chromosome 10 Syndrome	Microphthalmia, Cachexia	ORPHA:1438
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly	OMIM:618652
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Micropht...	OMIM:243605
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Failure to thrive	OMIM:602361
Kapur-Toriello Syndrome	Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:2328
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Microphthalmia, Syndromic 9	Neonatal death, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia	ORPHA:564
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Obesity	ORPHA:3191
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology	ORPHA:93323
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Baraitser-Winter Syndrome 1	Microphthalmia, Failure to thrive, Iris coloboma	OMIM:243310
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Decreased body weight	OMIM:609053
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia, Iri...	ORPHA:141099
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Holoprosencephaly	Microphthalmia, Anophthalmia, Failure to thrive in infancy, Iris coloboma	ORPHA:2162
Fanconi Anemia, Complementation Group S	Microphthalmia, Failure to thrive	OMIM:617883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Joubert Syndrome 37	Microphthalmia, Obesity	OMIM:619185
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to thrive	OMIM:257850
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Failure to thrive, Anophthalmia	ORPHA:2538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryot...	ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Cataract	ORPHA:2526
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Decreased body weight, Microph...	OMIM:300166
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Sclerocornea	OMIM:300952
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Trichothiodystrophy 1, Photosensitive	Cataract, Small for gestational age, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Small for gestational age, Developmental cataract	OMIM:127000
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
3Q29 Microdeletion Syndrome	Microphthalmia, Failure to thrive, Cataract	ORPHA:65286
Adams-Oliver Syndrome	Microphthalmia, Failure to thrive, Cataract	ORPHA:974
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:244300
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Failure to thrive in infancy, Decreased body weight	OMIM:610758
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Microphthalmia, Lenz Type	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:568
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Failure to thrive, Unilateral microphthalmos	OMIM:618874
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Monosomy 18P	Microphthalmia	ORPHA:1598
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Failure to thrive, Cataract	OMIM:302960
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
1Q21.1 Microdeletion Syndrome	Microphthalmia, Failure to thrive, Cataract, Iris coloboma	ORPHA:250989
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Moebius Syndrome	Microphthalmia	OMIM:157900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Joubert Syndrome 21	Anophthalmia	OMIM:615636
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Hypoplasia of the iris, Opacification of the corneal stroma,...	OMIM:251300
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Failure to thrive	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M...	OMIM:236670
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Microphthalmia With Limb Anomalies	Microphthalmia, Failure to thrive, True anophthalmia	ORPHA:1106
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Charge Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:138
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Cohen Syndrome	Microphthalmia, Failure to thrive in infancy, Iris coloboma, Obesity	ORPHA:193
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Failure to thrive, Corneal opacity	ORPHA:364577
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Rothmund-Thomson Syndrome, Type 2	Cataract, Small for gestational age, Microcornea, Microphthalmia, Zonular cataract	OMIM:268400
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Trisomy 18	Cataract, Cachexia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3380
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Failure to thrive, Corneal opacity	OMIM:601812
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Jacobsen Syndrome	Microcornea, Macular hypoplasia, Microphthalmia, Failure to thrive, Iris coloboma	OMIM:147791
Microcephaly-Micromelia Syndrome	Neonatal death, Microphthalmia	OMIM:251230
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Monosomy 9Q22.3	Microphthalmia, Cataract, Large for gestational age	ORPHA:77301
Histiocytoid Cardiomyopathy	Corneal opacity, Microphthalmia, Megalocornea, Failure to thrive, Congenital aphakia	ORPHA:137675
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Small for gestational age	OMIM:619148
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma	OMIM:214800
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Small for gestational age, Iris coloboma	OMIM:234100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Fanconi Anemia, Complementation Group F	Microphthalmia, Failure to thrive	OMIM:603467
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia...	ORPHA:649
Fanconi Anemia, Complementation Group E	Microphthalmia, Small for gestational age	OMIM:600901
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:2092
Cockayne Syndrome B	Small for gestational age, Developmental cataract, Hypoplasia of the iris, Microcornea, Opacifica...	OMIM:133540
Joubert Syndrome 2	Microphthalmia, Failure to thrive	OMIM:608091
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract	OMIM:308300
Galloway-Mowat Syndrome 3	Microphthalmia, Failure to thrive	OMIM:617729
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Momo Syndrome	Bilateral microphthalmos, Obesity, Large for gestational age	ORPHA:2563
Atelis Syndrome 2	Microphthalmia, Developmental cataract	OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia, Small for gestational age	OMIM:227650
Mend Syndrome	Microphthalmia, Failure to thrive, Cataract	ORPHA:401973
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Incontinentia Pigmenti	Keratitis, Microphthalmia, Cataract, Corneal opacity	ORPHA:464
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Ohdo Syndrome, X-Linked	Microphthalmia, Decreased body weight	OMIM:300895
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Treacher-Collins Syndrome	Microphthalmia, Failure to thrive, Cataract, Iris coloboma	ORPHA:861
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma	ORPHA:268249
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Fanconi Anemia, Complementation Group C	Microphthalmia, Small for gestational age	OMIM:227645
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal...	OMIM:253280
Cat Eye Syndrome	Microphthalmia, Iris coloboma	OMIM:115470
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Cockayne Syndrome	Cataract, Cachexia, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentigl...	ORPHA:191
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Stillbirth	OMIM:616300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Myhre Syndrome	Microphthalmia, Cataract, Small for gestational age, Obesity	OMIM:139210
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Failure to thrive, Corneal opacity	OMIM:608670
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia, F...	ORPHA:534
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Lowe Oculocerebrorenal Syndrome	Corneal scarring, Developmental cataract, Microphthalmia, Failure to thrive, Dense posterior cort...	OMIM:309000
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
Fryns Syndrome	Microphthalmia, Stillbirth, Opacification of the corneal stroma, Large for gestational age	OMIM:229850
Pallister-Hall Syndrome	Neonatal death, Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group D2	Microphthalmia, Small for gestational age	OMIM:227646
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Fanconi Anemia	Cataract, Weight loss, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia	ORPHA:84
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
22Q11.2 Deletion Syndrome	Failure to thrive, Cataract, Obesity, Microphthalmia, Posterior embryotoxon, Corneal neovasculari...	ORPHA:567
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Microphthalmia	OMIM:617925
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract, Truncal obesity, Microphthalmia, Failur...	OMIM:612474
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly	OMIM:616975
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Yunis-Varon Syndrome	Cataract, Sclerocornea, Bilateral microphthalmos, Severe failure to thrive, Microphthalmia	ORPHA:3472
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Neu-Laxova Syndrome 1	Cataract, Stillbirth, Neonatal death, Microphthalmia, Pterygium	OMIM:256520
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Fontaine Progeroid Syndrome	Neonatal death, Microphthalmia, Failure to thrive, Small for gestational age	OMIM:612289
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe failure to thrive, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Aicardi Syndrome	Microphthalmia	ORPHA:50
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma	OMIM:620186
Monosomy 9P	Microphthalmia	ORPHA:261112
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Witteveen-Kolk Syndrome	Cataract, Small for gestational age, Obesity, Anisocoria, Microphthalmia, Iris coloboma	OMIM:613406
Degcags Syndrome	Microphthalmia, Failure to thrive, Small for gestational age	OMIM:619488
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Microphthalmia, Iris coloboma	OMIM:235730
Townes-Brocks Syndrome	Cataract, Limbal dermoid, Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Stillbirth, Opacification of the corneal stroma, Microphthalmia	OMIM:268300
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Hydrolethalus Syndrome 1	Microphthalmia, Stillbirth	OMIM:236680
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Holoprosencephaly 1	Microphthalmia	OMIM:236100
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Small for gestational age, Optic nerve hypoplasia	ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:261537
Pallister-Hall Syndrome	Microphthalmia, Large for gestational age	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome	Cataract, Astigmatism, Axenfeld anomaly, Decreased body weight, Microphthalmia, Iris coloboma	ORPHA:2152

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 Capn15

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 Capn15.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.	Human molecular genetics (November 2020)	Capn15^{tm2a(EUCOMM)Hmgu}	32885237

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.

MGI Allele	Allele Type	Produced
Capn15^{tm84757(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Capn15^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Capn15^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us