Not currently registered for phenotyping at IMPC

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

Gene Summary

major intrinsic protein of lens fiber
Aqp0,  lens opacity,  aquaporin 0,  Cts,  MIP26,  Lop,  Svl,  shrivelled

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

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 Mip 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.

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

Disease Similarity of
Matching phenotypes Source
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274

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

Disease Similarity of
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Cataract OMIM:190330
Cataract 42
Cataract, Developmental cataract OMIM:115900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Galactosemia Iv
Cataract OMIM:618881
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Galactosemia Ii
Cataract OMIM:230200
X-Linked Retinoschisis
Cataract ORPHA:792
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Cataract 47
Microcornea, Cataract OMIM:612018
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Nathalie Syndrome
Cataract OMIM:255990
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Gombo Syndrome
Microphthalmia OMIM:233270
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior... OMIM:612109
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract ORPHA:324416
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Aniridia 3
Aniridia, Cataract OMIM:617142
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Retinal coloboma OMIM:601794
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Retinitis Pigmentosa 40
Cataract OMIM:613801
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Pellagra-Like Syndrome
Cataract OMIM:260650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:212550
Microphthalmia ORPHA:35612
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Nanophthalmos 4
Microphthalmia OMIM:615972
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cataract 48
Cataract OMIM:618415
Cataract 24
Anterior polar cataract OMIM:601202
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, M... OMIM:221900
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia OMIM:610125
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... ORPHA:139471
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Retinitis Pigmentosa 9
Cataract OMIM:180104
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract OMIM:613730
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cofs Syndrome
Microphthalmia, Cataract ORPHA:1466
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Mmep Syndrome
Microphthalmia ORPHA:3434
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Wagner Vitreoretinopathy
Cataract OMIM:143200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia OMIM:617306
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Cahmr Syndrome
Lamellar cataract OMIM:211770
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Coloboma OMIM:613153
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
Stickler Syndrome, Type V
Cataract OMIM:614284
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Retinitis Pigmentosa 4
Cataract OMIM:613731
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract ORPHA:35737
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Achromatopsia 3
Cataract OMIM:262300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia OMIM:615877
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma OMIM:613835
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Coloboma, Peters anomaly OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Coloboma, Abnormally large globe OMIM:615249
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Frontonasal Dysplasia 1
Microphthalmia, Cataract, Coloboma OMIM:136760
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Coloboma OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... ORPHA:2399
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Stiff Skin Syndrome
Cataract OMIM:184900
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia, Coloboma OMIM:167730
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma OMIM:614583
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea ORPHA:77298
Cataract 49
Posterior cortical cataract OMIM:619593
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Microphthalmia, Megaloco... ORPHA:370959
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
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
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Warburg Micro Syndrome 3
Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia OMIM:614222
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Cataract ORPHA:573
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Trisomy 13
Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma ORPHA:494344
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma ORPHA:2328
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Warburg Micro Syndrome 4
Microcornea, Microphthalmia, Developmental cataract OMIM:615663
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Walker-Warburg Syndrome
Anophthalmia, Cataract, Corneal opacity, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Microphthalmia, Lenz Type
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:568
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Kapur-Toriello Syndrome
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma OMIM:244300
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Refsum Disease
Microphthalmia, Cataract ORPHA:773
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Baraitser-Winter Syndrome 1
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:243310
Micro Syndrome
Microcornea, Microphthalmia, Cataract, Retinal coloboma ORPHA:2510
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract OMIM:610651
Seckel Syndrome 2
Microphthalmia OMIM:606744
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma ORPHA:2250
Phace Association
Microphthalmia, Optic nerve hypoplasia, Developmental cataract OMIM:606519
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp... OMIM:614643
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... OMIM:206900
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract OMIM:616449
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia OMIM:609053
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia ORPHA:85167
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Papillorenal Syndrome
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia OMIM:120330
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... ORPHA:959
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph... OMIM:236670
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea OMIM:614230
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... OMIM:154700
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Trichothiodystrophy 1, Photosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract OMIM:601675
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Joubert Syndrome 37
Microphthalmia OMIM:619185
Martsolf Syndrome 1
Microphthalmia, Cataract, Developmental cataract OMIM:212720
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Microphthalmia, Anophthalmia ORPHA:2189
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Monosomy 18P
Microphthalmia ORPHA:1598
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Joubert Syndrome 14
Microphthalmia, Coloboma OMIM:614424
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Moebius Syndrome
Microphthalmia OMIM:157900
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
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
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Proboscis Lateralis
Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea... ORPHA:141099
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Iris coloboma OMIM:618874
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:250989
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Pelvis-Shoulder Dysplasia
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma ORPHA:2839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ... ORPHA:2092
Trisomy 18
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3380
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract, Coloboma OMIM:603457
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia ORPHA:3412
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Meckel Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Developmental cataract ORPHA:464738
Hallermann-Streiff Syndrome
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:234100
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Incontinentia Pigmenti
Keratitis, Microphthalmia, Hypoplasia of the fovea, Cataract OMIM:308300
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Jacobsen Syndrome
Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:147791
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma ORPHA:251014
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:115470
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M... OMIM:253280
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Rothmund-Thomson Syndrome, Type 2
Microcornea, Microphthalmia, Cataract, Zonular cataract OMIM:268400
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Incontinentia Pigmenti
Keratitis, Microphthalmia, Cataract, Corneal opacity ORPHA:464
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:608091
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma OMIM:109400
Cohen Syndrome
Microphthalmia, Iris coloboma ORPHA:193
Monosomy 9Q22.3
Microphthalmia, Cataract ORPHA:77301
Pseudotrisomy 13 Syndrome
Microphthalmia, Cyclopia OMIM:264480
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Fryns Syndrome
Microphthalmia, Corneal opacity ORPHA:2059
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Mosaic Trisomy 9
Microphthalmia, Corneal opacity ORPHA:99776
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Cockayne Syndrome Type 3
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration ORPHA:90324
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Mend Syndrome
Microphthalmia, Cataract ORPHA:401973
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Hallermann-Streiff Syndrome
Microphthalmia, Developmental cataract ORPHA:2108
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma ORPHA:2162
Cockayne Syndrome B
Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:133540
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Coloboma, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:508498
Treacher-Collins Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:861
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Aicardi Syndrome
Microphthalmia, Cataract, Optic disc coloboma OMIM:304050
Frontonasal Dysplasia 2