Genes Phenotypes Help, News, Blog

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

Gene: Sipa1l3 MGI:1921456

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

signal-induced proliferation-associated 1 like 3

Synonyms:

2610511M17Rik

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 Sipa1l3 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 Sipa1l3 (1 diseases)
Human diseases predicted to be associated with Sipa1l3 (701 diseases)

The table below shows human diseases associated to Sipa1l3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 45		Developmental cataract	OMIM:616851

The table below shows human diseases predicted to be associated to Sipa1l3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 44	Developmental cataract	OMIM:616509
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Cataract 7	Developmental cataract	OMIM:115660
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Trichomegaly	Cataract	OMIM:190330
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Nathalie Syndrome	Cataract	ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow...	OMIM:221900
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Galactosemia Iv	Cataract	OMIM:618881
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
X-Linked Retinoschisis	Cataract	ORPHA:792
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Microcorne...	OMIM:612109
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Galactosemia Ii	Cataract	OMIM:230200
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Nathalie Syndrome	Cataract	OMIM:255990
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:231736
Cataract 47	Microcornea, Cataract	OMIM:612018
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Aniridia 3	Aniridia, Cataract	OMIM:617142
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Tietz Syndrome	Abnormal anterior chamber morphology	ORPHA:42665
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
Pellagra-Like Syndrome	Cataract	OMIM:260650
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Nanophthalmos	Microphthalmia, Abnormal choroid morphology	ORPHA:35612
Sympathetic Ophthalmia	Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,...	ORPHA:79098
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 48	Cataract	OMIM:618415
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Chorioretinal dysplasia	OMIM:251270
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Abnormal corneal end...	ORPHA:364055
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Gombo Syndrome	Microphthalmia	OMIM:233270
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
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
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Wagner Vitreoretinopathy	Cataract, Chorioretinal atrophy	OMIM:143200
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c...	ORPHA:139471
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Morm Syndrome	Cataract	ORPHA:75858
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Leber Congenital Amaurosis 8	Keratoconus, Choriocapillaris atrophy, Cataract, Chorioretinal atrophy	OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Chorioretinal coloboma, Peters anomaly, Microphthalmia	OMIM:120200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Stickler Syndrome, Type V	Cataract	OMIM:614284
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Microphthalmia, Abnormality of chorior...	OMIM:193220
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro...	ORPHA:91495
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Achromatopsia 3	Cataract	OMIM:262300
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Nanophthalmos 4	Microphthalmia	OMIM:615972
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Increased axial length of the globe, Microcornea, Shallow anterior chamber, Choriore...	OMIM:602499
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Cataract 24	Anterior polar cataract	OMIM:601202
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract	OMIM:616154
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract	OMIM:608227
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Microphthalmia, Cataract, Iris transillumination defect	OMIM:617306
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract	ORPHA:3433
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract	ORPHA:85172
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Stiff Skin Syndrome	Cataract	OMIM:184900
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Mevalonic Aciduria	Cataract	ORPHA:29
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Retinitis Pigmentosa 2	Cataract, Chorioretinal degeneration	OMIM:312600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Flynn-Aird Syndrome	Cataract	OMIM:136300
Senior-Loken Syndrome	Cataract	ORPHA:3156
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Cataract, Choroidal neovascularization, Abnormal choroid morph...	ORPHA:179
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Combined Oxidative Phosphorylation Deficiency 13	Cataract	OMIM:614932
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Mmep Syndrome	Microphthalmia	ORPHA:3434
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Monilethrix	Cataract	ORPHA:573
Weill-Marchesani Syndrome 1	Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract	OMIM:277600
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract	OMIM:615350
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly	OMIM:618652
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract	OMIM:612379
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Autosomal Recessive Spastic Paraplegia Type 26	Cataract	ORPHA:101006
Microcephalic Primordial Dwarfism, Toriello Type	Cataract	ORPHA:2643
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract, Chorioretinal atrophy	ORPHA:891
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract	OMIM:615704
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Nevus Comedonicus Syndrome	Cataract	ORPHA:64754
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Microcephaly 10, Primary, Autosomal Recessive	Cataract	OMIM:615095
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Hemochromatosis, Type 4	Cataract	OMIM:606069
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Subcapsular cataract, Cataract	OMIM:612674
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Vitamin K Antagonist Embryofetopathy	Aplasia/Hypoplasia affecting the eye, Cataract	ORPHA:1914
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Rere-Related Neurodevelopmental Syndrome	Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma	ORPHA:494344
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Pseudopseudohypoparathyroidism	Cataract	OMIM:612463
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Microcornea, Microphthalmia, Ir...	ORPHA:899
Stickler Syndrome Type 1	Cataract	ORPHA:90653
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Facial Spasm	Anisocoria	OMIM:134300
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Chorioretinal atrophy, Cortical cataract	OMIM:616468
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Cataract 49	Posterior cortical cataract	OMIM:619593
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:244300
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract	ORPHA:370997
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma	ORPHA:2328
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Microphthalmia, Lenz Type	Cataract, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Bardet-Biedl Syndrome 9	Astigmatism, Cataract	OMIM:615986
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract	ORPHA:369847
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract	ORPHA:79107
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Harlequin Ichthyosis	Cataract	ORPHA:457
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Chromosome Xp11.3 Deletion Syndrome	Posterior subcapsular cataract, Cataract	OMIM:300578
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Cadds	Cataract	ORPHA:369942
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Papillorenal Syndrome	Microphthalmia, Cataract, Chorioretinal atrophy, Lens luxation	OMIM:120330
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ocular albinism, Iris hypopigmentation	ORPHA:2720
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
Dahlberg-Borer-Newcomer Syndrome	Cataract	ORPHA:1563
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t...	OMIM:154700
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
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
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract	OMIM:268315
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:959
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Meckel Syndrome	Anophthalmia, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Aplasia/Hypoplasia of th...	ORPHA:564
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Keratitis, Uveitis, Microphthalmia	OMIM:308300
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ...	ORPHA:2092
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis	OMIM:186580
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Lenticonus, Anterior lenticonus	OMIM:308940
Atelis Syndrome 2	Microphthalmia, Developmental cataract	OMIM:620185
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Incontinentia Pigmenti	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Keratitis, Uveitis, Microphthalmia	ORPHA:464
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Chorioretinal colob...	ORPHA:141099
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Trisomy 18	Microcornea, Microphthalmia, Cataract, Iris coloboma	ORPHA:3380
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract, Uveitis	OMIM:164200
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Jacobsen Syndrome	Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:147791
Monosomy 18P	Microphthalmia	ORPHA:1598
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:234100
Cohen Syndrome	Microphthalmia, Chorioretinal dystrophy, Iris coloboma	ORPHA:193
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Moebius Syndrome	Microphthalmia	OMIM:157900
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
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
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Hallermann-Streiff Syndrome	Microphthalmia, Uveitis, Developmental cataract	ORPHA:2108
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Mednik Syndrome	Cataract	OMIM:609313
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
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chorioretinal dysplasia, Cataract	ORPHA:2526
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Aicardi Syndrome	Microphthalmia, Cataract, Chorioretinal lacunae	OMIM:304050
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cockayne Syndrome B	Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,...	OMIM:133540
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:613884
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Holoprosencephaly	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:2162
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera...	ORPHA:191
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:300166
Joubert Syndrome 2	Microphthalmia, Chorioretinal coloboma	OMIM:608091
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Microphthalmia, Posterior e...	ORPHA:2556
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly	OMIM:616975
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract	ORPHA:84
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:235730
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Chorioretinal coloboma, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
22Q11.2 Deletion Syndrome	Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization	ORPHA:567
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Holoprosencephaly 2	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma	OMIM:620186
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Charge Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:138
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Aicardi Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:50
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Witteveen-Kolk Syndrome	Anisocoria, Microphthalmia, Cataract, Iris coloboma	OMIM:613406
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma	OMIM:214800
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Microphthalmia, Iris co...	OMIM:309800
Monosomy 9P	Microphthalmia	ORPHA:261112
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Degcags Syndrome	Microphthalmia	OMIM:619488
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Mowat-Wilson Syndrome	Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210

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 Sipa1l3

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 Sipa1l3.

No publications found that use IMPC mice or data for Sipa1l3.

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
Sipa1l3^{tm463082(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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