Gene Summary

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

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
abnormal behavior Trpm3em1(IMPC)J HOM Early adult 4.60×10-05
hyperactivity Trpm3em1(IMPC)J HOM   Early adult 2.13×10-09
decreased thigmotaxis Trpm3em1(IMPC)J HOM Early adult 4.59×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Oculogyric crisis, Self-injurious behavior, Dystonia 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
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
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Aniridia 3
Cataract OMIM:617142
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 7
Developmental cataract OMIM:115660
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microspherophakia With Hernia
Superior lens subluxation, Microspherophakia OMIM:157150
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract, Choroideremia OMIM:116600
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Microphakia, Lens subluxation ORPHA:171844
Ataxia-Microcephaly-Cataract Syndrome
Developmental cataract OMIM:208870
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Trichomegaly
Cataract OMIM:190330
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Nanophthalmos 4
Microphthalmia OMIM:615972
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract ORPHA:2253
Cataract 42
Developmental cataract OMIM:115900
Galactosemia Iv
Cataract OMIM:618881
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
X-Linked Retinoschisis
Cataract ORPHA:792
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:212550
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Galactosemia Ii
Cataract OMIM:230200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Megaepiphyseal Dwarfism
Inferior lens subluxation OMIM:249230
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy OMIM:616562
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma ORPHA:1259
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Microphthalmia OMIM:610023
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Posterior lenticonus, Iris coloboma, Microcornea, Microphthalmia ORPHA:231736
Aniridia 2
Aniridia, Cataract OMIM:617141
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Gombo Syndrome
Microphthalmia OMIM:233270
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Nathalie Syndrome
Cataract OMIM:255990
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Lens subluxation OMIM:226440
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cataract 47
Cataract, Microcornea OMIM:612018
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea OMIM:610202
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Proximal Myotonic Myopathy
Cataract ORPHA:606
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Chori... OMIM:106210
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Marfanoid Hypermobility Syndrome
Ocular anterior segment dysgenesis, Ectopia lentis OMIM:154750
Nanophthalmos
Microphthalmia ORPHA:35612
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, Blue irides, White eyebrow OMIM:103500
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Alport Syndrome 3, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Retinitis Pigmentosa 84
Cataract OMIM:618220
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Bare Lymphocyte Syndrome, Type I
Ectopia lentis OMIM:604571
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Pigmentary retinopathy OMIM:312600
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Alg8-Cdg
Cataract ORPHA:79325
Pellagra-Like Syndrome
Cataract OMIM:260650
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Wildervanck Syndrome
Lens subluxation ORPHA:3456
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Waardenburg Syndrome, Type 4B
White eyebrow, Heterochromia iridis, Premature graying of hair, White eyelashes, White forelock, ... OMIM:613265
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Otodental Syndrome
Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy OMIM:204100
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis OMIM:272300
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Encephalopathy Due To Sulfite Oxidase Deficiency
Ectopia lentis ORPHA:833
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Cofs Syndrome
Cataract, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Retinitis Pigmentosa 37
Cataract, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anoph... ORPHA:139471
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis ORPHA:2325
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posterior polar cataract OMIM:115645
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Anterior polar cataract OMIM:250420
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Temtamy Syndrome
Lens luxation, Chorioretinal coloboma, Ectopia lentis, Iris coloboma OMIM:218340
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Corneal opacity, Peters anomaly, Microphthalmia, Optic nerve aplasia OMIM:120200
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Ectopia lentis OMIM:245160
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:615145
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Achondrogenesis Type 2
Cataract, Lens subluxation ORPHA:93296
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cataract 43
Subcapsular cataract OMIM:616279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, White eyelashes, Hypopl... OMIM:193510
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria OMIM:263100
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Posterior embryotoxon, Anterior polar cataract OMIM:619194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2712
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Generalized hypopigmentation OMIM:257790
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, M... ORPHA:290
Microphthalmia, Syndromic 5
Cataract, Microcornea, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Papillorenal Syndrome
Lens luxation, Cataract, Chorioretinal atrophy, Microphthalmia OMIM:120330
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism, Astigmatism,... ORPHA:54
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia OMIM:613153
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Sotos Syndrome 3
Hyperactivity OMIM:617169
Vitreoretinochoroidopathy
Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, Pulverulent cataract, Microcor... OMIM:193220
Albinism, Oculocutaneous, Type Ii
Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Hypoplasia of the fo... OMIM:203200
Mmep Syndrome
Microphthalmia ORPHA:3434
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalm... ORPHA:1806
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Corneal opacity, Cataract, Microcornea, Microphth... OMIM:152950
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Waardenburg Syndrome, Type 4A
White eyebrow, Heterochromia iridis, Premature graying of hair, White eyelashes, White forelock, ... OMIM:277580
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Kniest Dysplasia
Lens luxation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:485
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Nance-Horan Syndrome
Developmental cataract, Microcornea, Microphthalmia, Posterior Y-sutural cataract OMIM:302350
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Achromatopsia 3
Cataract OMIM:262300
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Microphthalmia, Limbal dermoid ORPHA:1791
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Weill-Marchesani Syndrome 1
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:277600
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Iris coloboma, Retinal pigment epithelial mottling,... ORPHA:448237
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Congenital Contractural Arachnodactyly
Ectopia lentis ORPHA:115
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Ectopia lentis, Hypopigmentation of the skin, Lens subluxation OMIM:236200
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Woolly Hair
Cataract, Hypopigmentation of hair, Abnormal pupil morphology ORPHA:170
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Lens luxation, Ectopia lentis, Microspherophakia, Iridodonesis, Catarac... OMIM:608328
Crome Syndrome
Developmental cataract OMIM:218900
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corneal neovascu... OMIM:278730
Marfanoid Habitus With Situs Inversus
Lens subluxation OMIM:609008
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation ORPHA:35737
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Lens luxation, Ectopia lentis OMIM:224400
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Optic disc hypoplasia, Posterior polar cataract ORPHA:261584
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Cataract, Microcornea, Microphthalmia OMIM:614222
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Microphthal... ORPHA:42775
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Microphthalmia, Pigmentary retinopathy OMIM:610651
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Molybdenum Cofactor Deficiency, Complementation Group B
Lens luxation, Ectopia lentis OMIM:252160
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Microphthalmia, Absent anterior chamber of the eye, Phthisis bulbi OMIM:259770
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Ehlers-Danlos Syndrome, Classic Type, 1
Ectopia lentis OMIM:130000
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Norrie Disease
Abnormal chorioretinal morphology, Anterior chamber synechiae, Ectopia lentis, Corneal opacity, H... ORPHA:649
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Abnormality of retinal pigm... ORPHA:79434
Refsum Disease
Cataract, Abnormality of retinal pigmentation, Microphthalmia ORPHA:773
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Microcornea, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation ORPHA:79095
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Marshall Syndrome
Cataract, Ectopia lentis ORPHA:560
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Chorioretinal coloboma, Ectopia lentis, Corneal opacity, Iris c... ORPHA:2092
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Hypoplasia of the fovea, Iris transillum... OMIM:619172
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Anophthalmia ORPHA:3378
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber morphology, Linea... OMIM:613001
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Knobloch Syndrome
Cataract, Ectopia lentis ORPHA:1571
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Optic nerve hypoplasia, Microphthalmia, Microcornea, Scl... OMIM:243605
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypoplasia... ORPHA:79431
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Cat Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:115470
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Microphthalmia, Megalocornea ORPHA:137675
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Cataract, Microcornea, Microphthalmia, A... ORPHA:899
Molybdenum Cofactor Deficiency, Complementation Group A
Lens luxation, Ectopia lentis OMIM:252150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Melanocytic nevus, Keratoconjunctivitis sicca, Ectopia lentis OMIM:616914
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Classic Homocystinuria
Cataract, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:394
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Iris coloboma, Peters anomaly, Microphthalmia, Astigmatism ORPHA:494344
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Contractural Arachnodactyly, Congenital
Ectopia lentis OMIM:121050
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Phthisis bulbi OMIM:618283
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Microphthalmia OMIM:244300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Curry-Jones Syndrome
Iris coloboma, Microphthalmia, Hypopigmented skin patches ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly, Microphthalmia OMIM:613150
Anisocoria
Anisocoria OMIM:106240
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Spondyloepiphyseal Dysplasia, Nishimura Type
Cataract, Microphthalmia ORPHA:163649
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Kapur-Toriello Syndrome