Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Trpm3 mutations

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

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

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... 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, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Edict Syndrome
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract OMIM:614303
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract 7
Developmental cataract OMIM:115660
Cataract 24
Anterior polar cataract OMIM:601202
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 42
Cataract, Developmental cataract OMIM:115900
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Trichomegaly
Cataract OMIM:190330
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
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
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract ORPHA:2253
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Galactosemia Iv
Cataract OMIM:618881
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
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
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Microcorne... OMIM:612109
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:231736
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
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, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Gombo Syndrome
Microphthalmia OMIM:233270
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Nathalie Syndrome
Cataract OMIM:255990
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism OMIM:606574
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Cataract 47
Microcornea, Cataract OMIM:612018
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Cataract OMIM:611040
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Aniridia 3
Aniridia, Cataract OMIM:617142
Nanophthalmos 4
Microphthalmia OMIM:615972
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cataract, Chorioretinal dysplasia, Abnormality of skin pigme... OMIM:251270
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Nanophthalmos
Microphthalmia ORPHA:35612
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy OMIM:616562
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:212550
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
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
Microcornea, Cataract OMIM:619082
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Alport Syndrome 3A, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Pellagra-Like Syndrome
Cataract OMIM:260650
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract OMIM:180104
Cofs Syndrome
Microphthalmia, Cataract, 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
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract OMIM:613730
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... ORPHA:139471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow... OMIM:221900
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract OMIM:250420
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Mend Syndrome
Anterior polar cataract, Macular hypoplasia, Spotty hypopigmentation, Cataract OMIM:300960
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary ret... OMIM:613835
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Vitreoretinochoroidopathy
Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinopathy, Microphthalmia... OMIM:193220
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract OMIM:613731
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon OMIM:619194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia OMIM:610125
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract OMIM:618220
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Microphthalmia, Generalized hypopigmentation OMIM:617306
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Chorioretinal coloboma, Peters anomaly, Microphthalmia OMIM:120200
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... ORPHA:1806
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi... OMIM:152950
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Mmep Syndrome
Microphthalmia ORPHA:3434
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe... ORPHA:352731
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract ORPHA:35737
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Phenylketonuria
Fair hair, Generalized hypopigmentation, Cataract, Blue irides OMIM:261600
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Crome Syndrome
Developmental cataract OMIM:218900
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microphthalmia, Cataract OMIM:612379
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly OMIM:618652
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
Posterior polar cataract, Optic disc hypoplasia ORPHA:261584
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea ORPHA:77298
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract, Chorioretinal atrophy ORPHA:891
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract OMIM:277600
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract OMIM:619649
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Curry-Jones Syndrome
Microphthalmia, Hypopigmented skin patches, Iris coloboma ORPHA:1553
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Freckling, Pigmentary retinopathy OMIM:610651
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea ORPHA:370959
Warburg Micro Syndrome 3
Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia OMIM:614222
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Bresek Syndrome
Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:85284
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Refsum Disease
Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:773
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Trisomy 13
Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Warburg Micro Syndrome 4
Microcornea, Microphthalmia, Developmental cataract OMIM:615663
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma ORPHA:494344
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Microcornea, Microphthalmia, Ir... ORPHA:899
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... OMIM:619172
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... OMIM:609049
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... ORPHA:79431
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract OMIM:268100
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Facial Spasm
Anisocoria OMIM:134300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Kapur-Toriello Syndrome
Microphthalmia, Cataract, Iris coloboma OMIM:244300
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Cahmr Syndrome
Lamellar cataract OMIM:211770
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Cataract OMIM:618571
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma ORPHA:2328
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Microphthalmia, Lenz Type
Cataract, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:568
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Cataract ORPHA:2250
Micro Syndrome
Microcornea, Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:2510
Phace Association
Microphthalmia, Optic nerve hypoplasia, Developmental cataract OMIM:606519
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Histidinemia
Hyperactivity ORPHA:2157
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia, Irregular hyperpigmentation ORPHA:2505
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Baraitser-Winter Syndrome 1
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:243310
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea OMIM:614230
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Microph... ORPHA:85167
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Joubert Syndrome 22
Microphthalmia OMIM:615665
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi... OMIM:614077
Fanconi Anemia, Complementation Group I
Microphthalmia, Cafe-au-lait spot, Astigmatism, Optic nerve hypoplasia OMIM:609053
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract 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
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Coats Disease
Leukocoria OMIM:300216
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Microphthalmia, Cataract ORPHA:65286
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Trichothiodystrophy 1, Photosensitive
Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:601675
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
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Seckel Syndrome 2
Microphthalmia OMIM:606744
Linear Nevus Sebaceus Syndrome
Microphthalmia, Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus ORPHA:2612
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Aplasia/Hypo... ORPHA:2719
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Papillorenal Syndrome
Microphthalmia, Cataract, Chorioretinal atrophy, Lens luxation OMIM:120330
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia OMIM:206900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Cafe-au-lait spot, Unilateral microphthalmos OMIM:618874
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Martsolf Syndrome 1
Microphthalmia, Cataract, Developmental cataract OMIM:212720
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... OMIM:154700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... OMIM:236670
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:250989
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Uveitis, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:959
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia, Hypopigmen... OMIM:251300
Steinfeld Syndrome
Microphthalmia, Iris coloboma OMIM:184705
Ring Chromosome 10 Syndrome