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Gene: Trpm3 MGI:2443101

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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Viewing: all phenotypes

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.

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Auditory Brain Stem Response

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

8 Images

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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
phenotypes		 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
OMIM:620224

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity 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
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract 7
Developmental cataract OMIM:115660
Cataract 24
Anterior polar cataract OMIM:601202
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia 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
Developmental cataract, Choroideremia, Posterior polar cataract OMIM:116600
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 42
Cataract, Developmental cataract OMIM:115900
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Abnormality of retinal pigmentation, Microphakia ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Trichomegaly
Cataract OMIM:190330
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:120433
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, 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
Anophthalmia, Microphthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus OMIM:613763
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... OMIM:604229
Microphthalmia, Syndromic 16
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Microphthalmia, Ocular anterior segment dysgenesis OMIM:610023
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Phthisis bulbi, Posterior synech... OMIM:612109
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Microcornea ORPHA:231736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
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
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry... ORPHA:1473
Gombo Syndrome
Microphthalmia OMIM:233270
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Nathalie Syndrome
Cataract OMIM:255990
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:300915
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia OMIM:606574
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation, Microphthalmia ORPHA:85194
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Cataract 47
Cataract, Microcornea OMIM:612018
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... OMIM:619165
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Microphthalmia, Isolated 5
Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Aniridia 3
Cataract, Aniridia OMIM:617142
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Microphthalmia, Abnormality of retinal pigmentation, Abnormali... OMIM:251270
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Nanophthalmos
Microphthalmia ORPHA:35612
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Retinitis Pigmentosa 74
Pigmentary retinopathy, Posterior polar cataract OMIM:616562
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Corneal opacity,... OMIM:610202
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, 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
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,... ORPHA:137902
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 17, Multiple Types
Developmental cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:611544
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural 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
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Otodental Syndrome
Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Microcornea ORPHA:2791
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 2, Multiple Types
Nuclear pulverulent cataract, Aculeiform cataract, Developmental cataract, Nuclear cataract, Micr... OMIM:604307
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Cofs Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 48
Cataract OMIM:618415
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Norrie Disease
Cataract, Microphthalmia, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal ... OMIM:310600
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Chorioretinal coloboma, Anophthalmia, Micr... ORPHA:139471
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... OMIM:221900
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract OMIM:250420
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Mend Syndrome
Cataract, Spotty hypopigmentation, Anterior polar cataract, Macular hypoplasia OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Choriocapillaris atrophy, Nummular pigmentation of... OMIM:613835
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Micropht... OMIM:193220
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina OMIM:613731
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Posterior embryotoxon, Anterior polar cataract OMIM:619194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Premature graying of hair, Albinism, Numerous pigmented freckles, White ... OMIM:193510
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina OMIM:618220
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Generalized hypopigmentation, Microphthalmia, Iris transillumination defect, Microcornea OMIM:617306
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Microphthalmia, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Congenital Rubella Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi... ORPHA:290
Microphthalmia, Syndromic 5
Cataract, Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Microcornea OMIM:610125
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Peters anomaly OMIM:120200
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Freckles in sun-exposed areas, Albinism, Hypopigmentation o... OMIM:203200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Microphthalmia, Popliteal pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcorne... ORPHA:1806
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology... ORPHA:54
Persistent Hyperplastic Primary Vitreous
Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, P... ORPHA:91495
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Mmep Syndrome
Microphthalmia ORPHA:3434
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Microphthalmia, Chorioretinal lacunae, Corneal op... OMIM:152950
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Nance-Horan Syndrome
Developmental cataract, Posterior Y-sutural cataract, Microcornea, Microphthalmia OMIM:302350
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Iris hypopigmentation, Generalized hypopigmentation, Genera... ORPHA:352731
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation ORPHA:35737
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Iris coloboma, Microphthalmia, Limbal dermoid, Microcornea ORPHA:1791
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Chorioretinal coloboma OMIM:218340
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia OMIM:613153
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Wh... ORPHA:79435
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Congenital Microcoria
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... ORPHA:566
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Anophthalmia, Microcornea OMIM:615877
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Crome Syndrome
Developmental cataract OMIM:218900
Phenylketonuria
Blue irides, Cataract, Fair hair, Generalized hypopigmentation OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Griscelli Syndrome Type 1
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair ORPHA:79476
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phace Syndrome
Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Het... ORPHA:42775
3Q29 Microduplication Syndrome
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Aniridia ORPHA:251038
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Conjunctivitis, Corneal neovascu... OMIM:278730
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microphthalmia, Abnormally large globe OMIM:615249
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Ectopia lentis, Macular agenesis, Corneal er... OMIM:106210
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity OMIM:605899
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Posterior polar cataract, Optic disc hypoplasia ORPHA:261584
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly OMIM:618652
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Microphthalmia OMIM:614105
Woolly Hair Nevus
Persistent pupillary membrane, Patchy hypopigmentation of hair, Heterochromia iridis ORPHA:79414
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Iris coloboma, Microphthalmia ORPHA:77298
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... ORPHA:999
Familial Exudative Vitreoretinopathy
Cataract, Chorioretinal atrophy, Microphthalmia ORPHA:891
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Freckling, Microphthalmia OMIM:610651
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Weill-Marchesani Syndrome 1
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:277600
Curry-Jones Syndrome
Iris coloboma, Microphthalmia, Hypopigmented skin patches ORPHA:1553
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Microphthalmia, Buphthalmos OMIM:616538
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Microphthalmia, Spontaneous conjunctival filtering bleb, ... OMIM:601552
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling OMIM:619649
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Microphthalmia, ... ORPHA:649
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, White eyebrow, White hair... ORPHA:79432
Tetraamelia-Multiple Malformations Syndrome
Cataract, Iris coloboma, Septo-optic dysplasia, Microphthalmia, Microcornea ORPHA:3301
Warburg Micro Syndrome 3
Cataract, Microphthalmia, Shallow anterior chamber, Developmental cataract, Microcornea OMIM:614222
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Microphthalmia, Optic nerve hypoplasia, Abnormality iris morphology ORPHA:370959
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Microphthalmia OMIM:618727
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Iris coloboma, Microphthalmia, Microcornea ORPHA:2712
Refsum Disease
Cataract, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Bresek Syndrome
Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:85284
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Stromme Syndrome
Cataract, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peter... OMIM:243605
Histiocytoid Cardiomyopathy
Megalocornea, Congenital aphakia, Corneal opacity, Microphthalmia ORPHA:137675
Trisomy 13
Cataract, Iris coloboma, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Oculo-Palato-Cerebral Syndrome
Cataract, Microphthalmia, Leukocoria ORPHA:2714
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Albinism, Oculocutaneous, Type Ia
Blue irides, Hypoplasia of the fovea, Astigmatism, Albinism, White hair, Hypopigmentation of hair... OMIM:203100
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Anterior synechiae o... ORPHA:3214
Weill-Marchesani Syndrome 2
Cataract, Ectopia lentis, Astigmatism, Iridodonesis, Lens luxation, Microspherophakia, Shallow an... OMIM:608328
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Fair hair, Iris transillumination defect, Mel... OMIM:619172
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Phthisis bulbi OMIM:618283
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Microphthalmia, Sclerocornea, Corneal opacity ORPHA:284160
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Astigmatism, Microphthalmia, Chorioretinal coloboma, Peters anomaly ORPHA:494344
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Iris coloboma, Microphthalmia, Corneal opacity, Anophthalmia, ... ORPHA:899
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Pierson Syndrome
Cataract, Hypoplasia of the ciliary body, Microcoria, Microphthalmia, Hypoplasia of the iris, Pos... OMIM:609049
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... ORPHA:79431
Oculocutaneous Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Whit... ORPHA:55
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Peters anomaly OMIM:613150
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Microphthalmia OMIM:244300
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid OMIM:613001
Cahmr Syndrome
Lamellar cataract OMIM:211770
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a... OMIM:611584
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Microphthalmia OMIM:618571
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia ORPHA:2328
Microphthalmia, Lenz Type
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea ORPHA:568
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Anophthalmia, Iris coloboma, Microphthalmia ORPHA:2250
Micro Syndrome
Cataract, Microcornea, Microphthalmia, Abnormality of retinal pigmentation ORPHA:2510
Facial Spasm
Anisocoria OMIM:134300
Histidinemia
Hyperactivity ORPHA:2157
Phace Association
Developmental cataract, Microphthalmia, Optic nerve hypoplasia OMIM:606519
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Iris hypopigmentation, Generalized hypopigmentation, White hair, Ocular albinism ORPHA:2720
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microcornea, Microphthalmia ORPHA:2505
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:243310
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Sclerocornea, Microphthalmia OMIM:614230
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Microphthalmia, Abnormality of retinal pigmentation, Lens subluxation, Corneal ... ORPHA:85167
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Cataract, Microcornea, Microphthalmia OMIM:257850
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Joubert Syndrome 22
Microphthalmia OMIM:615665
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Hermansky-Pudlak Syndrome 8
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Astigmatism, Albinism, Ocular... OMIM:614077
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neuroocular Syndrome
Blue irides, Hypoplasia of the fovea, Cataract, Lens coloboma, Brushfield spots, Iris coloboma, S... OMIM:619539
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Pigmentary retinopathy, Microphthalmia, Sclerocornea, Peters anomaly OMIM:309801
Late-Onset Retinal Degeneration
Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... ORPHA:67042
Fanconi Anemia, Complementation Group I
Astigmatism, Microphthalmia, Cafe-au-lait spot, Optic nerve hypoplasia OMIM:609053
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Microphthalmia OMIM:616449
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Hyperpigmented streaks, Microphthalmia OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
Coats Disease
Leukocoria OMIM:300216
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Trichothiodystrophy 1, Photosensitive
Cataract, Freckling, Keratoconjunctivitis sicca, Microphthalmia, Microcornea OMIM:601675
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Seckel Syndrome 2
Microphthalmia OMIM:606744
3Q29 Microdeletion Syndrome
Cataract, Abnormality of skin pigmentation, Microphthalmia ORPHA:65286
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Choroideremia, Hypopigmentation of hair, Ocular albinism, Cornea... ORPHA:2719
Linear Nevus Sebaceus Syndrome
Irregular hyperpigmentation, Iris coloboma, Microphthalmia, Melanocytic nevus ORPHA:2612
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613266
Papillorenal Syndrome
Cataract, Lens luxation, Chorioretinal atrophy, Microphthalmia OMIM:120330
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Anophthalmia OMIM:206900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Cafe-au-lait spot, Unilateral microphthalmos, Iris coloboma OMIM:618874
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Marfan Syndrome
Cataract, Ectopia lentis, Astigmatism, Microspherophakia, Hypoplasia of the iris, Increased axial... OMIM:154700
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Megalocornea, Microphthalmia, Optic nerve hypoplasia, Buphthalmos, Corneal opacity, Pet... OMIM:236670
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Microphthalmia, Phthisis bulbi, Iris atrophy OMIM:259770
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia OMIM:153400
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation, Iritis ORPHA:158000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis ORPHA:369891
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Acro-Renal-Ocular Syndrome
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Microcornea ORPHA:959
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Sponastrime Dysplasia
Cataract, Congenital aphakia, Microcoria ORPHA:93357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Steinfeld Syndrome
Iris coloboma, Microphthalmia OMIM:184705
Galloway-Mowat Syndrome 1
Cataract, Microphthalmia, Hypoplasia of the iris, Hypopigmentation of the skin, Opacification of ... OMIM:251300
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Incontinentia Pigmenti
Cataract, Hypoplasia of the fovea, Uveitis, Microphthalmia, Keratitis, Abnormality of skin pigmen... OMIM:308300
Incontinentia Pigmenti
Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Uveitis, Microphthalmia, Corne... ORPHA:464
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Microphthalmia, Hypoplasia of the iris, Chorioretinal coloboma, Co... ORPHA:2092
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Waardenburg Syndrome, Type 1
Blue irides, Hypoplastic iris stroma, Premature graying of hair, White eyelashes, Partial albinis... OMIM:193500
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia of ... ORPHA:564
Duane-Radial Ray Syndrome
Cataract, Microphthalmia, Iris coloboma, Optic disc hypoplasia OMIM:607323
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Aortic Aneurysm, Familial Thoracic 4