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Gene: Nat2 MGI:109201

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

N-acetyltransferase 2 (arylamine N-acetyltransferase)

Synonyms:

N/A

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 Nat2 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 Nat2 (1 diseases)
Human diseases predicted to be associated with Nat2 (506 diseases)

The table below shows human diseases associated to Nat2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Acetylation, Slow			OMIM:243400

The table below shows human diseases predicted to be associated to Nat2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Trichomegaly	Cataract	OMIM:190330
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Nathalie Syndrome	Cataract	ORPHA:2663
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Gombo Syndrome	Microphthalmia	OMIM:233270
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
X-Linked Retinoschisis	Cataract	ORPHA:792
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Galactosemia Iv	Cataract	OMIM:618881
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
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
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Nanophthalmos	Microphthalmia	ORPHA:35612
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Nanophthalmos 4	Microphthalmia	OMIM:615972
Galactosemia Ii	Cataract	OMIM:230200
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Cataract 47	Microcornea, Cataract	OMIM:612018
Nathalie Syndrome	Cataract	OMIM:255990
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Mmep Syndrome	Microphthalmia	ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Hydrolethalus	Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly	ORPHA:2189
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior...	OMIM:221900
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Cockayne Syndrome Type 2	Anophthalmia, Conjunctivitis, Developmental cataract	ORPHA:90322
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro...	ORPHA:91495
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Pellagra-Like Syndrome	Cataract	OMIM:260650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Microphthalmia, Cataract, Iris transillumination defect	OMIM:617306
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cataract 48	Cataract	OMIM:618415
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy	ORPHA:1101
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia	ORPHA:3412
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Trisomy 1Q	Hydrocephalus, Anophthalmia	ORPHA:261344
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract	OMIM:612379
Cockayne Syndrome Type 1	Anophthalmia, Conjunctivitis, Cataract	ORPHA:90321
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly	OMIM:618652
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
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
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Meckel Syndrome	Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia	ORPHA:564
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology	ORPHA:93323
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia, Iri...	ORPHA:141099
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Holoprosencephaly	Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencepha...	ORPHA:2162
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Cataract	ORPHA:2526
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma	ORPHA:2328
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:244300
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma	OMIM:243310
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia	OMIM:610829
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Microphthalmia, Lenz Type	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:568
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon	ORPHA:2556
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:300166
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Monosomy 18P	Microphthalmia	ORPHA:1598
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
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
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Fraser Syndrome 1	Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos	OMIM:219000
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Moebius Syndrome	Microphthalmia	OMIM:157900
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Charge Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract	OMIM:308300
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma	OMIM:214800
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Atelis Syndrome 2	Microphthalmia, Developmental cataract	OMIM:620185
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:2092
Alg3-Cdg	Neural tube defect	ORPHA:79321
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Trisomy 18	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:3380
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Microphthalmia With Limb Anomalies	Microphthalmia, Hydrocephalus, True anophthalmia	ORPHA:1106
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Incontinentia Pigmenti	Keratitis, Microphthalmia, Cataract, Corneal opacity	ORPHA:464
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma	ORPHA:268249
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Cohen Syndrome	Microphthalmia, Iris coloboma	ORPHA:193
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Jacobsen Syndrome	Microcornea, Microphthalmia, Macular hypoplasia, Iris coloboma	OMIM:147791
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:234100
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
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
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Cat Eye Syndrome	Microphthalmia, Iris coloboma	OMIM:115470
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Cockayne Syndrome B	Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,...	OMIM:133540
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera...	ORPHA:191
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia	ORPHA:534
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly	OMIM:616975
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia	OMIM:164210
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract	ORPHA:84
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
22Q11.2 Deletion Syndrome	Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization	ORPHA:567
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma	OMIM:620186
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Aicardi Syndrome	Microphthalmia	ORPHA:50
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Microphthalmia, Iris coloboma	OMIM:235730
Monosomy 9P	Microphthalmia	ORPHA:261112
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Witteveen-Kolk Syndrome	Anisocoria, Microphthalmia, Cataract, Iris coloboma	OMIM:613406
Townes-Brocks Syndrome	Limbal dermoid, Microphthalmia, Cataract, Iris coloboma	ORPHA:857
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Degcags Syndrome	Microphthalmia	OMIM:619488
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Schinzel-Giedion Syndrome	Umbilical hernia, Neural tube defect	ORPHA:798
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Mowat-Wilson Syndrome	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Acetylation, Slow		OMIM:243400

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 Nat2

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 Nat2.

No publications found that use IMPC mice or data for Nat2.

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
Nat2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nat2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nat2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nat2^{tm1e(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

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