Gene Summary

transient receptor potential cation channel, subfamily M, member 3
MLSN2,  6330504P12Rik,  melastatin 2,  LTRPC3,  B930001P07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Trpm3em1(IMPC)J HOM Early adult 1.77×10-08

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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Trpm3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trpm3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
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
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Aniridia 3
Cataract OMIM:617142
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Cataract 7
Developmental cataract OMIM:115660
Cataract 24
Anterior polar cataract OMIM:601202
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Congenital Primary Aphakia
Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge... ORPHA:83461
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 42
Cataract, Developmental cataract OMIM:115900
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Abnormality of retinal pigmentation ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Cataract OMIM:190330
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:120433
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Galactosemia Iv
Cataract OMIM:618881
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Microcornea ORPHA:2432
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 16, Multiple Types
Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea ORPHA:2528
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:231736
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Gombo Syndrome
Microphthalmia OMIM:233270
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Chorioretinal co... ORPHA:1473
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Nathalie Syndrome
Cataract OMIM:255990
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Microphthalmia, Syndromic 13
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea OMIM:300915
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Cataract 47
Cataract, Microcornea OMIM:612018
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... OMIM:217300
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Persistent p... ORPHA:1067
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract ORPHA:324416
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Cataract, Microphthalmia OMIM:611040
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract, Microphthalmia, ... OMIM:251270
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microphthalmia ORPHA:35612
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation ORPHA:370097
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Abnormality iris morphology ORPHA:1617
Retinitis Pigmentosa 74
Pigmentary retinopathy, Posterior polar cataract OMIM:616562
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Buphthalmos, Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:212550
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 17, Multiple Types
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea OMIM:611544
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Alport Syndrome 3, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microphthalmia, Microcornea OMIM:616171
Otodental Syndrome
Microcornea, Lens coloboma, Iris coloboma, Cataract, Microphthalmia ORPHA:2791
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... OMIM:604307
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Cofs Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Cataract 48
Cataract OMIM:618415
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma, Scler... ORPHA:139471
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Cat-Eye Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:195
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract OMIM:250420
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Nance-Horan Syndrome
Cataract, Microphthalmia, Microcornea ORPHA:627
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Pigmentary retinopathy, N... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea OMIM:601349
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Mend Syndrome
Macular hypoplasia, Anterior polar cataract, Cataract, Spotty hypopigmentation OMIM:300960
Pulverulent cataract, Developmental cataract, Microcornea, Abnormality of chorioretinal pigmentat... OMIM:193220
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cerebrooculofacioskeletal Syndrome 2
Cataract, Microphthalmia, Developmental cataract OMIM:610756
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract, Bone spicule pigmentation of the retina OMIM:613731
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microphthalmia, Microcornea ORPHA:48431
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon OMIM:619194
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, White eyebrow, Numerous pigmented freckles,... OMIM:193510
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina OMIM:618220
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia OMIM:610125
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Microphthalmia, Co... ORPHA:290
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Peters anomaly, Microphthalmia, Corneal opacity, Chorioretinal coloboma OMIM:120200
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Developmental Delay With Variable Neurologic And Brain Abnormalities
Astigmatism, Cataract, Microphthalmia OMIM:619694
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Microphthalmia, Sclerocornea OMIM:615145
Bartsocas-Papas Syndrome 2
Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Corneal opacity OMIM:619339
Rodrigues Blindness
Microphthalmia, Sclerocornea, Microcornea OMIM:268320
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalm... ORPHA:1806
Temtamy Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1777
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati... ORPHA:54
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Persistent Hyperplastic Primary Vitreous
Leukocoria, Macular hypoplasia, Developmental cataract, Microcornea, Buphthalmos, Shallow anterio... ORPHA:91495
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Mmep Syndrome
Microphthalmia ORPHA:3434
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Warburg Micro Syndrome 1
Microphthalmia, Developmental cataract, Microcornea OMIM:600118
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcornea, Astigmatism, Cataract, Corneal opacity, Microphthalmia, Myopic astigmatism, Choriore... OMIM:152950
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microphthalmia, Developmental cataract, Microcornea OMIM:302350
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation of hair, Generalized hypopigmentation... ORPHA:352731
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Kniest Dysplasia
Lens luxation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:485
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Frontofacionasal Dysplasia
Brushfield spots, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Microphthalmia ORPHA:1791
Temtamy Syndrome
Lens luxation, Ectopia lentis, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:218340
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Fair hair, Cataract, Blue irides, Generalized hypopigmentation OMIM:261600
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microcornea, Cataract, Microphthalmia, Ectopia pupillae, Sclerocornea OMIM:615877
Crome Syndrome
Developmental cataract OMIM:218900
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Albinism, Oculocutaneous, Type Vii
Albinism, Iris transillumination defect OMIM:615179
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Pierpont Syndrome
Microphthalmia, Microcornea ORPHA:487825
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... ORPHA:79433
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract, Microphthalmia,... OMIM:278730
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Iris coloboma, Heterochromia iridis, Cataract, Microphthal... ORPHA:42775
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microphthalmia, Abnormally large globe OMIM:615249
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Optic disc hypoplasia, Posterior polar cataract ORPHA:261584
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Woolly Hair Nevus
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane ORPHA:79414
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Iris coloboma, Anophthalmia, Sclerocornea ORPHA:77298
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
Familial Exudative Vitreoretinopathy
Chorioretinal atrophy, Cataract, Microphthalmia ORPHA:891
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Cataract, Microphthalmia, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Pierpont Syndrome
Microphthalmia, Microcornea OMIM:602342
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Cataract, Freckling, Microphthalmia OMIM:610651
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Curry-Jones Syndrome
Iris coloboma, Microphthalmia, Hypopigmented skin patches ORPHA:1553
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Retinal pigment epithelial mottling OMIM:619649
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash... ORPHA:79432
Norrie Disease
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Trichothiodystrophy 3, Photosensitive
Cataract, Microphthalmia, Developmental cataract OMIM:616395
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract, Microphthalmia ORPHA:3301
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Warburg Micro Syndrome 2
Cataract, Microphthalmia, Developmental cataract, Microcornea OMIM:614225
Warburg Micro Syndrome 3
Developmental cataract, Microcornea, Shallow anterior chamber, Cataract, Microphthalmia OMIM:614222
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Optic nerve hypoplasia, Cataract, Microphthalmia, Abnormality iris morphology ORPHA:370959
Refsum Disease
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Oculofaciocardiodental Syndrome
Microcornea, Ectopia lentis, Iris coloboma, Cataract, Microphthalmia ORPHA:2712
Bresek Syndrome
Iris coloboma, Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Microphthalmia, Ectopia pupillae OMIM:618727
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Stromme Syndrome
Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, Cataract, Microphthalmia, Scl... OMIM:243605
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Microphthalmia ORPHA:2714
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Microphthalmia ORPHA:3378
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Astigmatism, Hypoplasia of the fovea, Hypopigmentation of hair, Blue i... OMIM:203100
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski... ORPHA:3214
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Hypoplasi... OMIM:619172
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea ORPHA:284160
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Weill-Marchesani Syndrome 2
Lens luxation, Ectopia lentis, Astigmatism, Shallow anterior chamber, Cataract, Microspherophakia... OMIM:608328
Walker-Warburg Syndrome
Anophthalmia, Microcornea, Iris coloboma, Cataract, Corneal opacity, Microphthalmia, Chorioretina... ORPHA:899
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Iris coloboma, Peters anomaly, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Pierson Syndrome
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the... OMIM:609049
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Warburg Micro Syndrome 4
Microphthalmia, Developmental cataract, Microcornea OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Microphthalmia, Persistent pupillary membrane OMIM:613150
Iris coloboma, Microphthalmia, Cataract ORPHA:391474
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia, Cataract OMIM:244300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... OMIM:611584
Cahmr Syndrome
Lamellar cataract OMIM:211770
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia ORPHA:2328
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Iris coloboma, Anophthalmia, Cataract ORPHA:2250
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Micro Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Microcornea ORPHA:2510
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Astigmatism, Cataract, Microphthalmia OMIM:618571
Microphthalmia, Lenz Type
Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma ORPHA:568
Facial Spasm
Anisocoria OMIM:134300
Hyperactivity ORPHA:2157
Phace Association
Microphthalmia, Developmental cataract, Optic nerve hypoplasia OMIM:606519
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair ORPHA:2720
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Cataract, Persistent pupillary membrane, Microcornea OMIM:257850
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microphthalmia, Microcornea ORPHA:2505
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Hermansky-Pudlak Syndrome 5
Albinism, Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism OMIM:614074
Baraitser-Winter Syndrome 1
Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:243310
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microphthalmia, Microcornea OMIM:234050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Cataract, Microphthalmia, Sclerocornea OMIM:614230
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Joubert Syndrome 22
Microphthalmia OMIM:615665
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphthalmia, Corneal opacity, Ectopia p... ORPHA:85167
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microphthalmia, Microcornea ORPHA:35173
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Silver-gr... OMIM:614077
Frontofacionasal Dysplasia
Iris coloboma, Microphthalmia, Cataract, Microcornea OMIM:229400
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Fanconi Anemia, Complementation Group I
Astigmatism, Cafe-au-lait spot, Microphthalmia, Optic nerve hypoplasia OMIM:609053
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Peters anomaly, Cataract, Microphthalmia, Pigmentary retinopathy, Sclerocornea OMIM:309801
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microphthalmia, Microcornea OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea, Hyperpigmented streaks OMIM:300952
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Coats Disease
Leukocoria OMIM:300216
Neuroocular Syndrome
Brushfield spots, Lens coloboma, Microcornea, Iris coloboma, Peters anomaly, Cataract, Blue iride... OMIM:619539
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Seckel Syndrome 2
Microphthalmia OMIM:606744
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Microcornea, Freckling, Cataract, Microphthalmia OMIM:601675
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Microcornea OMIM:110100
Linear Nevus Sebaceus Syndrome
Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus, Microphthalmia ORPHA:2612
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculocerebral Hypopigmentation Syndrome, Cross Type
Aplasia/Hypoplasia affecting the eye, Ocular albinism, Choroideremia, Iris hypopigmentation, Hypo... ORPHA:2719
3Q29 Microdeletion Syndrome
Cataract, Abnormality of skin pigmentation, Microphthalmia ORPHA:65286
Papillorenal Syndrome
Lens luxation, Chorioretinal atrophy, Cataract, Microphthalmia OMIM:120330
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve aplasia, Optic nerve hypoplasia, Cataract, Microphthalmia, Sclerocornea OMIM:206900
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Monosomy 13Q14
Iris coloboma, Microphthalmia, Cataract ORPHA:1587
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Marfan Syndrome
Increased axial length of the globe, Hypoplasia of the iris, Ectopia lentis, Astigmatism, Catarac... OMIM:154700
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Microcornea OMIM:156610
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Cafe-au-lait spot, Unilateral microphthalmos OMIM:618874
Martsolf Syndrome 1
Cataract, Microphthalmia, Developmental cataract OMIM:212720
Osteoporosis-Pseudoglioma Syndrome
Absent anterior chamber of the eye, Cataract, Microphthalmia, Iris atrophy, Phthisis bulbi OMIM:259770
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Recurrent corneal erosions, Corneal ulceration, Microphthalmia OMIM:153400
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Uveitis ORPHA:158000
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Optic nerve hypoplasia, Buphthalmos, Cataract, Peters anomaly, Corneal opacity, Mic... OMIM:236670
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma ORPHA:959
1Q21.1 Microdeletion Syndrome
Iris coloboma, Microphthalmia, Cataract ORPHA:250989
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Steinfeld Syndrome
Iris coloboma, Microphthalmia OMIM:184705
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Hypoplasia of the iris, Cataract, Microphthalmia, Opacification of ... OMIM:251300
Incontinentia Pigmenti
Abnormality of skin pigmentation, Uveitis, Cataract, Hypoplasia of the fovea, Microphthalmia, Ker... OMIM:308300
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Incontinentia Pigmenti
Irregular hyperpigmentation, Abnormality of skin pigmentation, Abnormal chorioretinal morphology,... ORPHA:464
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Micropht... ORPHA:2092
Waardenburg Syndrome, Type 1
Premature graying of hair, White eyelashes, White eyebrow, Hypoplastic iris stroma, White foreloc... OMIM:193500
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Meckel Syndrome
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Microcornea, Cat... ORPHA:564
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Duane-Radial Ray Syndrome
Iris coloboma, Optic disc hypoplasia, Microphthalmia, Cataract OMIM:607323
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Mycophenolate Mofetil Embryopathy
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:268249
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Iris coloboma, Microcornea ORPHA:2839
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, I... ORPHA:193
Solitary Median Maxillary Central Incisor