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

Electrocardiogram (ECG)

Waveform Image

3 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.

The table below shows human diseases associated to Trpm3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures

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
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
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Abnormality of retinal pigmentation, Cataract ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract OMIM:190330
X-Linked Retinoschisis
Cataract ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:120433
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate 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
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Microcornea ORPHA:2432
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Weill-Marchesani Syndrome 3
Microspherophakia, Ectopia lentis, Shallow anterior chamber OMIM:614819
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Galactosemia Ii
Cataract OMIM:230200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Galactosemia Iv
Cataract OMIM:618881
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea ORPHA:2528
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Peters anomaly, Iris coloboma OMIM:610023
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Choriore... OMIM:612109
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris co... ORPHA:1473
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Gombo Syndrome
Microphthalmia OMIM:233270
Nathalie Syndrome
Cataract OMIM:255990
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:300915
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Spondylo-Ocular Syndrome
Iris hypopigmentation, Microphthalmia, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Cataract 47
Cataract, Microcornea OMIM:612018
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Microphthalmia, Isolated 5
Cataract, Microphthalmia, Bone spicule pigmentation of the retina OMIM:611040
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti... OMIM:619165
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract ORPHA:324416
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Aniridia 3
Cataract, Aniridia OMIM:617142
Nanophthalmos 4
Microphthalmia OMIM:615972
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract, ... OMIM:251270
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Microphthalmia ORPHA:35612
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation ORPHA:370097
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M... OMIM:610202
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Retinitis Pigmentosa 74
Pigmentary retinopathy, Posterior polar cataract OMIM:616562
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma OMIM:212550
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Microphthalmia, Cataract ORPHA:1617
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Proximal Myotonic Myopathy
Cataract ORPHA:606
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Anterior polar cataract OMIM:104200
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microphthalmia, Microcornea OMIM:616171
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Ectopia lentis, Shallow anterior chamber OMIM:129600
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Otodental Syndrome
Microphthalmia, Microcornea, Lens coloboma, Cataract, Iris coloboma ORPHA:2791
Norrie Disease
Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L... OMIM:310600
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Anterior polar cataract OMIM:620510
Cofs Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Cataract 48
Cataract OMIM:618415
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign OMIM:161200
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Phthisis bu... OMIM:221900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris c... ORPHA:139471
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism ORPHA:231183
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Leber Congenital Amaurosis 8
Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris atrophy... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Nance-Horan Syndrome
Cataract, Microphthalmia, Microcornea ORPHA:627
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea OMIM:601349
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Mend Syndrome
Cataract, Macular hypoplasia, Anterior polar cataract, Spotty hypopigmentation OMIM:300960
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Microphthalmia, Microcornea, Developmental cataract, Abnormality of chorioretinal pigmentation, P... OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy OMIM:613731
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Cerebrooculofacioskeletal Syndrome 2
Cataract, Microphthalmia, Developmental cataract OMIM:610756
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Anterior polar cataract, Hypoplasia of the iris OMIM:619194
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract OMIM:610125
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina OMIM:618220
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Hypoplastic iris st... OMIM:193510
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microphthalmia, Astigmatism OMIM:619694
Long-Olsen-Distelmaier Syndrome
Cataract, Optic nerve hypoplasia, Microspherophakia OMIM:620609
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Generalized hypopigmentation, Microcornea, Cataract OMIM:617306
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, Iris coloboma OMIM:615145
Congenital Rubella Syndrome
Microphthalmia, Corneal opacity, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasi... ORPHA:290
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Optic nerve aplasia, Chorioretinal coloboma, Peters anomaly OMIM:120200
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microphthalmia, Microcornea ORPHA:48431
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Albini... OMIM:203200
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Rodrigues Blindness
Microphthalmia, Sclerocornea, Microcornea OMIM:268320
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:1777
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal... ORPHA:91495
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Abnormality of skin pigmentation, Sclerocornea, C... ORPHA:1806
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Hypoplasia of the fovea, Fr... ORPHA:54
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Warburg Micro Syndrome 1
Microphthalmia, Developmental cataract, Microcornea OMIM:600118
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Chorioretinal lacu... OMIM:152950
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
Mmep Syndrome
Microphthalmia ORPHA:3434
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Kniest Dysplasia
Cataract, Lens luxation, Aplasia/Hypoplasia of the lens ORPHA:485
Nance-Horan Syndrome
Microphthalmia, Posterior Y-sutural cataract, Developmental cataract, Microcornea OMIM:302350
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation ORPHA:35737
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Oculocutaneous Albinism Type 1
Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo... ORPHA:352731
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma ORPHA:1791
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Noonan Syndrome 2
Hypermelanotic macule, Anterior polar cataract, Hyperpigmentation of the skin, Cafe-au-lait spot,... OMIM:605275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Temtamy Syndrome
Microphthalmia, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Iris coloboma OMIM:218340
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Microphthalmia, Corneal opacity OMIM:613153
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris hypopigmentation, Abnorm... ORPHA:79435
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Cataract 43
Posterior subcapsular cataract OMIM:616279
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Crome Syndrome
Developmental cataract OMIM:218900
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Pierpont Syndrome
Microphthalmia, Microcornea ORPHA:487825
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma ORPHA:251038
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv... OMIM:278730
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara... ORPHA:42775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microphthalmia, Abnormally large globe OMIM:615249
Oculocutaneous Albinism Type 3
Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, White eyebrow, Ge... ORPHA:79433
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly OMIM:618652
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Optic disc hypoplasia, Posterior polar cataract ORPHA:261584
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Pierpont Syndrome
Microphthalmia, Microcornea OMIM:602342
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Iris coloboma, Sclerocornea, Anophthalmia ORPHA:77298
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia, Chorioretinal atrophy ORPHA:891
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I... ORPHA:999
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract ORPHA:2399
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Curry-Jones Syndrome
Hypopigmented skin patches, Microphthalmia, Iris coloboma ORPHA:1553
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia, Freckling, Pigmentary retinopathy OMIM:610651
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis, Patchy hypopigmentation of hair ORPHA:79414
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Weill-Marchesani Syndrome 1
Cataract, Ectopia lentis, Shallow anterior chamber, Microspherophakia OMIM:277600
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Norrie Disease
Abnormal chorioretinal morphology, Microphthalmia, Aplasia/Hypoplasia of the lens, Corneal opacit... ORPHA:649
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Chromosome 16Q12 Duplication Syndrome
Cataract, Retinal pigment epithelial mottling, Anisocoria OMIM:619649
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Warburg Micro Syndrome 2
Cataract, Microphthalmia, Developmental cataract, Microcornea OMIM:614225
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Megalocornea, Cataract ORPHA:370959
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Microphthalmia, Astigmatism, Ectopia pupillae OMIM:618727
Warburg Micro Syndrome 3
Microphthalmia, Microcornea, Shallow anterior chamber, Developmental cataract, Cataract OMIM:614222
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Iris coloboma ORPHA:3301
Oculocutaneous Albinism Type 2
Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopigmentation of... ORPHA:79432
Trichothiodystrophy 3, Photosensitive
Cataract, Microphthalmia, Developmental cataract OMIM:616395
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Oculo-Palato-Cerebral Syndrome
Cataract, Microphthalmia, Leukocoria ORPHA:2714
Refsum Disease
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Oculofaciocardiodental Syndrome
Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma ORPHA:2712
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris... OMIM:243605
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Histiocytoid Cardiomyopathy
Megalocornea, Microphthalmia, Corneal opacity, Congenital aphakia ORPHA:137675
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Trisomy 13
Microphthalmia, Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Iris coloboma ORPHA:3378
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Microcornea, Corneal opacity, Cataract, Chorioretinal dysplasia, Ir... ORPHA:899
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,... ORPHA:3214
Albinism, Oculocutaneous, Type Ia
Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Hypoplasia of the fovea, Albinism... OMIM:203100
8Q21.11 Microdeletion Syndrome
Microphthalmia, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract ORPHA:284160
Weill-Marchesani Syndrome 2
Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Ectopia lentis, Shallow anterior cha... OMIM:608328
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Warburg Micro Syndrome 4
Microphthalmia, Developmental cataract, Microcornea OMIM:615663
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma ORPHA:494344
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Hypoplasia of the fovea, Melanocytic nevus, Albinism, Fair hair, O... OMIM:619172
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t... OMIM:609049
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Hypoplasia of the ... ORPHA:79431
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly OMIM:613150
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cataract, Microphthalmia, Iris coloboma ORPHA:391474
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Facial Spasm
Anisocoria OMIM:134300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Limbal dermoid OMIM:613001
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Kapur-Toriello Syndrome
Cataract, Microphthalmia, Iris coloboma OMIM:244300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Microphthalmia, Astigmatism OMIM:618571
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Microphthalmia, Lenz Type
Microphthalmia, Microcornea, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:568
Cahmr Syndrome
Lamellar cataract OMIM:211770
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma ORPHA:2328
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Microphthalmia, Iris coloboma, Anophthalmia ORPHA:2250
Micro Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Microcornea ORPHA:2510
Phace Association
Optic nerve hypoplasia, Microphthalmia, Developmental cataract OMIM:606519
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Hyperactivity ORPHA:2157
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2720
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microphthalmia, Microcornea ORPHA:2505
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:243310
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Keratoconjunctivitis sicca, Microcornea OMIM:234050
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614074
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Corneal opacity, Abnormality of retinal pigmentation, Ectopia pupillae, Lens subl... ORPHA:85167
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Microphthalmia, Sclerocornea, Pigmentary retinopathy OMIM:614230
Joubert Syndrome 22
Microphthalmia OMIM:615665
Late-Onset Retinal Degeneration
Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,... ORPHA:67042
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microphthalmia, Persistent pupillary membrane, Microcornea OMIM:257850
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microphthalmia, Microcornea ORPHA:35173
Frontofacionasal Dysplasia
Cataract, Microphthalmia, Microcornea, Iris coloboma OMIM:229400
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Neuroocular Syndrome
Microphthalmia, Microcornea, Stellate iris, Hypoplasia of the fovea, Lens coloboma, Brushfield sp... OMIM:619539
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Myopic astigmatism, Silver-gray hair, Generalized hyp... OMIM:614077
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Sclerocornea, Cataract, Peters anomaly, Pigmentary retinopathy, Iris coloboma OMIM:309801
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia OMIM:248450
Fanconi Anemia, Complementation Group I
Cafe-au-lait spot, Optic nerve hypoplasia, Microphthalmia, Astigmatism OMIM:609053
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microphthalmia, Microcornea OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Hyperpigmented streaks, Sclerocornea OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Optic nerve hypoplasia, Microphthalmia, Peters anomaly OMIM:614643
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Microcornea, Cataract, Freckling, Keratoconjunctivitis sicca OMIM:601675
Coats Disease
Leukocoria OMIM:300216
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
3Q29 Microdeletion Syndrome
Cataract, Abnormality of skin pigmentation, Microphthalmia ORPHA:65286
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Linear Nevus Sebaceus Syndrome
Irregular hyperpigmentation, Microphthalmia, Melanocytic nevus, Iris coloboma ORPHA:2612
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Corneal opacity, Aplasia/Hypoplasia affecting the eye, Choroideremia, I... ORPHA:2719
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Papillorenal Syndrome
Cataract, Lens luxation, Microphthalmia, Chorioretinal atrophy OMIM:120330
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Sclerocornea, Cataract OMIM:206900
Martsolf Syndrome 1
Cataract, Microphthalmia, Developmental cataract OMIM:212720
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Microcornea OMIM:156610
Marfan Syndrome
Astigmatism, Microspherophakia, Increased axial length of the globe, Hypoplasia of the iris, Ecto... OMIM:154700
Monosomy 13Q14
Cataract, Microphthalmia, Iris coloboma ORPHA:1587
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis ORPHA:369891
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis OMIM:153400
1Q21.1 Microdeletion Syndrome
Cataract, Microphthalmia, Iris coloboma ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Cataract, Buphthalmos, Pet... OMIM:236670
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Cafe-au-lait spot, Unilateral microphthalmos, Iris coloboma OMIM:618874
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi OMIM:259770
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Microcornea OMIM:110100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Juvenile Xanthogranuloma
Uveitis, Iritis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation ORPHA:158000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Seckel Syndrome 2
Microphthalmia OMIM:606744