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 1.83×10-08
abnormal auditory brainstem response Trpm3em1(IMPC)J HOM   Early adult 7.15×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

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
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria ORPHA:178469

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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 39, Multiple Types
Developmental cataract OMIM:615188
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Aniridia 3
Cataract OMIM:617142
Cataract 24
Anterior polar cataract OMIM:601202
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Cataract 7
Developmental cataract OMIM:115660
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ataxia-Microcephaly-Cataract Syndrome
Developmental cataract OMIM:208870
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Cataract ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Trichomegaly
Cataract OMIM:190330
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract ORPHA:2253
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Cataract 42
Developmental cataract OMIM:115900
Galactosemia Iv
Cataract OMIM:618881
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
X-Linked Retinoschisis
Cataract ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Immunodeficiency 8
Hyperactivity OMIM:615401
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Microphthalmia, Cataract, Chorioretinal coloboma OMIM:212550
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia OMIM:120433
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy OMIM:616562
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
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
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Chorioretinal atrophy, Macular hypoplasia, Posterior... OMIM:612109
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:231736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Gombo Syndrome
Microphthalmia OMIM:233270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia, Chorioretinal co... ORPHA:1473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Macular hypoplasia, Opacification... ORPHA:2334
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Nathalie Syndrome
Cataract OMIM:255990
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides, Macular hypoplasia OMIM:606574
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Cataract 47
Cataract, Microcornea OMIM:612018
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... OMIM:619165
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 21, Multiple Types
Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia OMIM:610202
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Abnormality of skin pigmentation, C... OMIM:251270
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Nanophthalmos
Microphthalmia ORPHA:35612
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Proximal Myotonic Myopathy
Cataract ORPHA:606
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Alport Syndrome 3, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasi... ORPHA:137902
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Cataract, Microphthalmia OMIM:611040
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Cataract OMIM:616468
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Otodental Syndrome
Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma ORPHA:2791
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Microphthalmia ORPHA:1466
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Norrie Disease
Corneal opacity, Shallow anterior chamber, Microphthalmia, Buphthalmos, Opacification of the corn... OMIM:310600
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract OMIM:180104
Retinitis Pigmentosa 37
Cataract, Pigmentary retinopathy OMIM:611131
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea, Chorioretinal c... ORPHA:139471
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Microphthalmia, Phthisis bulbi, Buphthalmos, Microcorn... OMIM:221900
Cat-Eye Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:195
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Anterior polar cataract OMIM:250420
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posterior polar cataract OMIM:115645
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:615145
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Cataract, Microphthalmia OMIM:615181
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Hypsarrhythmia OMIM:619970
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... OMIM:193510
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Hypoplasia of the iris, Posterior embryotoxon OMIM:619194
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract OMIM:263100
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Generalized hypopigmentation OMIM:257790
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microcornea, Cataract, Microphthalmia OMIM:610125
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cataract, Astigmatism OMIM:619694
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly, Microphthalmia, Optic nerve aplasia, Chorioretinal coloboma OMIM:120200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Rodrigues Blindness
Microcornea, Sclerocornea, Microphthalmia OMIM:268320
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Pulverulent cataract, Abnormality of chorioretinal pigmentat... OMIM:193220
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Microphthalmia OMIM:619339
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Abnormality of skin pigmentation, Corneal dystrophy, Microphthalmia, Kerat... ORPHA:1806
Mmep Syndrome
Microphthalmia ORPHA:3434
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Hypoplasia of the fovea, Astigmatism, Giant melanosom... ORPHA:54
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Achromatopsia 3
Cataract OMIM:262300
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Microphthalmia, Phthisis bulbi, Buphthalmos, Macular h... ORPHA:91495
Temtamy Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Microphthalmia, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Choriore... OMIM:152950
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Iris hypopigmentation, White ... ORPHA:352731
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Frontofacionasal Dysplasia
Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots, Microphthalmia ORPHA:1791
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia OMIM:302350
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract ORPHA:35737
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Phenylketonuria
Cataract, Blue irides, Fair hair, Generalized hypopigmentation OMIM:261600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract, Microphthalmia OMIM:613153
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Microphthalmia OMIM:169550
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity OMIM:239500
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... ORPHA:566
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphthalmia, Sclerocornea OMIM:615877
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Crome Syndrome
Developmental cataract OMIM:218900
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Griscelli Syndrome Type 1
Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Warburg Micro Syndrome 2
Developmental cataract, Cataract, Microcornea, Microphthalmia OMIM:614225
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cataract, Microphthalmia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Cataract, Microphthalmia OMIM:615249
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Corneal neovascularization, Cataract, Microphthalmia, Keratoconjunctivitis sicca, Conj... OMIM:278730
3Q29 Microduplication Syndrome
Iris coloboma, Cataract, Microphthalmia, Aniridia, Sclerocornea ORPHA:251038
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Posterior polar cataract, Optic disc hypoplasia ORPHA:261584
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Iris coloboma, Cataract, Heterochromia irid... ORPHA:42775
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Warburg Micro Syndrome 3
Shallow anterior chamber, Microcornea, Cataract, Developmental cataract, Microphthalmia OMIM:614222
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Cataract, Absent anterior chamber of the eye, Microphthalmia, Iris atrophy OMIM:259770
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... ORPHA:999
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Familial Exudative Vitreoretinopathy
Chorioretinal atrophy, Cataract, Microphthalmia ORPHA:891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Sclerocornea, Microphthalmia ORPHA:77298
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Xeroderma Pigmentosum, Complementation Group B
Freckling, Cataract, Pigmentary retinopathy, Microphthalmia OMIM:610651
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... ORPHA:88616
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... OMIM:172800
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Microspherophakia, Cataract, Ectopia lentis OMIM:277600
Curry-Jones Syndrome
Iris coloboma, Hypopigmented skin patches, Microphthalmia ORPHA:1553
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract OMIM:619649
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Microphthalmia ORPHA:773
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Oculofaciocardiodental Syndrome
Microcornea, Iris coloboma, Cataract, Microphthalmia, Ectopia lentis ORPHA:2712
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Microphthalmia, Cataract, Astigmatism OMIM:618727
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Stromme Syndrome
Optic nerve hypoplasia, Microcornea, Peters anomaly, Iris coloboma, Cataract, Microphthalmia, Scl... OMIM:243605
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Linear hyperpigment... OMIM:613001
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Megalocornea, Abnormality iris morphology, Cataract, Microphthalmia ORPHA:370959
Trisomy 13
Anophthalmia, Iris coloboma, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Astigmatism, Alb... OMIM:203100
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Mel... OMIM:619172
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... ORPHA:98818
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Microphthalmia ORPHA:137675
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Walker-Warburg Syndrome
Corneal opacity, Microphthalmia, Anophthalmia, Microcornea, Iris coloboma, Cataract, Chorioretina... ORPHA:899
8Q21.11 Microdeletion Syndrome
Corneal opacity, Iris hypopigmentation, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Phthisis bulbi OMIM:618283
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... ORPHA:3214
Weill-Marchesani Syndrome 2
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... OMIM:608328
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... ORPHA:79431
Pierson Syndrome
Macular hypoplasia, Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia o... OMIM:609049
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Peters anomaly, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Microphthalmia, Persistent pupillary membrane OMIM:613150
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Frontorhiny
Iris coloboma, Cataract, Microphthalmia ORPHA:391474
Kapur-Toriello Syndrome
Iris coloboma, Cataract, Microphthalmia OMIM:244300
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, White... OMIM:611584
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia ORPHA:2328
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Cataract, Anophthalmia, Microphthalmia ORPHA:2250
Optic Atrophy 11
Facial diplegia, Hyperactivity, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Cataract, Astigmatism OMIM:618571
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Microphthalmia, Lenz Type
Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma ORPHA:568
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia ORPHA:2510
Phace Association
Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, Increased the... ORPHA:1929
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, Cataract, White hair ORPHA:2720
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Facial Spasm
Anisocoria OMIM:134300
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Heterochromia iridis, White forelock, Premature graying of hair, H... OMIM:148820
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microcornea, Microphthalmia ORPHA:2505
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Cahmr Syndrome
Lamellar cataract OMIM:211770
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... ORPHA:206443
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism, Hypoplasia of the fovea, Iris transillumination defect OMIM:614074
Baraitser-Winter Syndrome 1
Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:243310
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Sclerocornea, Microphthalmia OMIM:614230
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, EEG abnormality, Hyperactivity OMIM:618718
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Microph... ORPHA:85167
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Joubert Syndrome 22
Microphthalmia OMIM:615665
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... ORPHA:67042
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Frontofacionasal Dysplasia
Iris coloboma, Cataract, Microcornea, Microphthalmia OMIM:229400
Fanconi Anemia, Complementation Group I
Cafe-au-lait spot, Microphthalmia, Optic nerve hypoplasia, Astigmatism OMIM:609053
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Peters anomaly, Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:614643
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Peters anomaly, Iris coloboma, Cataract, Microphthalmia, Sclerocornea OMIM:309801
Coats Disease
Leukocoria OMIM:300216
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Trichothiodystrophy 1, Photosensitive
Microcornea, Cataract, Freckling, Microphthalmia, Keratoconjunctivitis sicca OMIM:601675
Neuroocular Syndrome
Blue irides, Stellate iris, Microcornea, Hypoplasia of the fovea, Peters anomaly, Iris coloboma, ... OMIM:619539
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Skin Creases, Congenital Symmetric Circumferential, 1