Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Trpm3em1(IMPC)J HOM Early adult 1.77×10-08
abnormal auditory brainstem response Trpm3em1(IMPC)J HOM   Early adult 5.52×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
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
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
Microphthalmia, Cataract OMIM:156850
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
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
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
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
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 7
Developmental cataract OMIM:115660
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea 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
Microphthalmia, Cataract OMIM:610623
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ataxia-Microcephaly-Cataract Syndrome
Developmental cataract OMIM:208870
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cataract OMIM:190330
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Nanophthalmos 4
Microphthalmia OMIM:615972
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
Microphthalmia, Anophthalmia OMIM:251600
X-Linked Retinoschisis
Cataract ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Foveal Hypoplasia 2
Posterior embryotoxon, Microphthalmia, Axenfeld anomaly, Hypoplasia of the fovea OMIM:609218
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
Microphthalmia, Chorioretinal coloboma, Cataract, Iris 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
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Retinitis Pigmentosa 74
Pigmentary retinopathy, Posterior polar cataract OMIM:616562
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract ORPHA:2528
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
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
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Posterior lenticonus, Microphthalmia, Iris coloboma ORPHA:231736
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Phthisis bulbi, Sclerocornea, Microcornea, Catara... OMIM:612109
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Aniridia 2
Cataract, Aniridia OMIM:617141
Gombo Syndrome
Microphthalmia OMIM:233270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Iris co... ORPHA:1473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Macular hypoplasia, Blue irides OMIM:606574
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Nathalie Syndrome
Cataract OMIM:255990
Spondylo-Ocular Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Cataract OMIM:616171
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cataract 47
Microcornea, Cataract OMIM:612018
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Developmental cataract, Ocular anterior segment dysgenesis ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Cerulean cataract, Macular hypoplasia, Iris coloboma OMIM:610202
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Microphthalmia, Opacification of the ... OMIM:310600
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Microphthalmia ORPHA:35612
Proximal Myotonic Myopathy
Cataract ORPHA:606
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Retinitis Pigmentosa 84
Cataract OMIM:618220
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, Generalized hypopigmentation, White eyelashes OMIM:103500
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea OMIM:300915
Alport Syndrome 3, Autosomal Dominant
Lenticonus, Anterior polar cataract OMIM:104200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Aplasia/H... ORPHA:137902
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Cataract, Abnormality of skin pigmentation OMIM:611040
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Ectopia pupillae OMIM:615877
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Otodental Syndrome
Microcornea, Cataract, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Microphthalmia, Iris atrophy OMIM:601552
Cofs Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract OMIM:611131
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Iris c... ORPHA:139471
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Cataract 2, Multiple Types
Microcornea, Developmental cataract, Nuclear cataract OMIM:604307
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Nance-Horan Syndrome
Microphthalmia, Microcornea, Cataract ORPHA:627
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posterior polar cataract OMIM:115645
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Anterior polar cataract OMIM:250420
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, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea OMIM:601349
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:615145
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Anterior polar cataract, Hypoplasia of the iris OMIM:619194
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Microcornea, Cataract ORPHA:48431
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Generalized hypopigmentation OMIM:257790
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Corneal opacity, Peters anomaly, Microphthalmia, Optic nerve aplasia OMIM:120200
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Abnormality of chorioretinal pigmentation, Microcornea, Microphthalmia, Pigmentary retinopathy, P... OMIM:193220
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Mmep Syndrome
Microphthalmia ORPHA:3434
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Albinism, Blue i... OMIM:203200
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Microph... ORPHA:1806
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Giant melanosomes in melanocytes... ORPHA:54
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Phthisis bulbi, Persistent pupillary membrane, ... ORPHA:91495
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:1777
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Cataract, Corneal opaci... OMIM:152950
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Warburg Micro Syndrome 1
Microphthalmia, Microcornea, Developmental cataract OMIM:600118
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Blue irides, White eyelashes, Iris transillumination defe... ORPHA:352731
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Achromatopsia 3
Cataract OMIM:262300
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality OMIM:239500
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Frontofacionasal Dysplasia
Microcornea, Cataract, Microphthalmia, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Kniest Dysplasia
Cataract, Lens luxation, Aplasia/Hypoplasia of the lens ORPHA:485
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract ORPHA:35737
Nance-Horan Syndrome
Microphthalmia, Microcornea, Developmental cataract, Posterior Y-sutural cataract OMIM:302350
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Fair hair, Cataract, Blue irides, Generalized hypopigmentation OMIM:261600
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia OMIM:615113
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Woolly Hair
Cataract, Abnormal pupil morphology, Hypopigmentation of hair ORPHA:170
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Crome Syndrome
Developmental cataract OMIM:218900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Warburg Micro Syndrome 2
Microphthalmia, Microcornea, Cataract, Developmental cataract OMIM:614225
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Pierpont Syndrome
Microphthalmia, Microcornea ORPHA:487825
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Xeroderma Pigmentosum, Complementation Group D
Cataract, Microphthalmia, Keratoconjunctivitis sicca, Keratitis, Corneal neovascularization, Conj... OMIM:278730
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Microcornea, Cataract, Microphthalmia OMIM:614222
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Iridodonesis, Cataract, Astigmatism, Microspherophakia, Lens luxation, ... OMIM:608328
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Microphthalmia, Aniridia, Iris coloboma ORPHA:251038
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Optic disc hypoplasia, Posterior polar cataract ORPHA:261584
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Phace Syndrome
Heterochromia iridis, Sclerocornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Lens colobo... ORPHA:42775
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Irregular hyperpigmen... ORPHA:2885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Cataract, Buphthalmos OMIM:616538
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Cataract, Absent anterior chamber of the eye, Microphthalmia, Iris atrophy OMIM:259770
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract, Chorioretinal atrophy ORPHA:891
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Microphthalmia, Bilateral microphthalmos, Conjunctival hyperemia ORPHA:2399
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Astigmatism, Ocular albinism, Iris hypopigm... ORPHA:999
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Anophthalmia, Iris coloboma, Microphthalmia ORPHA:77298
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly OMIM:618652
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Pierpont Syndrome
Microphthalmia, Microcornea OMIM:602342
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Pigmentary retinopathy, Cataract, Freckling OMIM:610651
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Curry-Jones Syndrome
Microphthalmia, Iris coloboma, Hypopigmented skin patches ORPHA:1553
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplasia of the fovea, Hyperpigm... ORPHA:79432
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Refsum Disease
Microphthalmia, Abnormality of retinal pigmentation, Cataract ORPHA:773
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Oculofaciocardiodental Syndrome
Ectopia lentis, Microcornea, Cataract, Microphthalmia, Iris coloboma ORPHA:2712
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Cataract, Corneal opacity, Aplasia/Hypoplasia of the lens, ... ORPHA:649
Fraxe Intellectual Disability
Hyperactivity, Prominent ear helix ORPHA:100973
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Microphthalmia OMIM:618727
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microcornea, Cataract, Microphthalmia, Iris coloboma ORPHA:3301
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Iris coloboma ORPHA:85284
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocor... OMIM:613001
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigme... ORPHA:79434
Trisomy 13
Anophthalmia, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma ORPHA:3378
Papillorenal Syndrome
Chorioretinal atrophy, Cataract, Microphthalmia, Lens luxation OMIM:120330
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:115470
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Astigmatism, Blue irides, Ocular alb... OMIM:203100
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Microphthalmia, Megalocornea, Abnormality iris morphology ORPHA:370959
Stromme Syndrome
Sclerocornea, Microcornea, Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Hermansky-Pudlak Syndrome 11
Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Ocular albinism, Mel... OMIM:619172
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Morm Syndrome
Hyperactivity ORPHA:75858
Warburg Micro Syndrome 4
Microphthalmia, Microcornea, Developmental cataract OMIM:615663
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Phthisis bulbi OMIM:618283
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Hypopigmentation of hair, Hypopigmented skin patches,... ORPHA:3214
Walker-Warburg Syndrome
Anophthalmia, Chorioretinal dysplasia, Microcornea, Cataract, Corneal opacity, Microphthalmia, Ir... ORPHA:899
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Microphthalmia, Iris hypopigmentation ORPHA:284160
Landau-Kleffner Syndrome
Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormality, EEG with... ORPHA:98818
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Hypoplasia of the iris, Cataract, Posterior lent... OMIM:609049
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Low-set ears, Macrotia OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, EEG abnormality, Posteriorly rotated ears, Low-set ears OMIM:617773
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Microphthalmia ORPHA:137675
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, R... ORPHA:55
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Albinism, Ocular... ORPHA:79431
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract OMIM:268100
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma ORPHA:494344
Anisocoria OMIM:106240
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Peters anomaly, Microphthalmia, Buphthalmos OMIM:613150
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Kapur-Toriello Syndrome
Microphthalmia, Cataract, Iris coloboma OMIM:244300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cataract, Anophthalmia, Iris coloboma ORPHA:2250
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Optic Atrophy 11
Hyperactivity, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Microphthalmia OMIM:618571
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma ORPHA:2328
Facial Spasm
Anisocoria OMIM:134300
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Microphthalmia, Lenz Type
Chorioretinal coloboma, Microcornea, Cataract, Microphthalmia, Iris coloboma ORPHA:568
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Phace Association
Microphthalmia, Developmental cataract, Optic nerve hypoplasia OMIM:606519
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Microcornea, Keratoconjunctivitis sicca OMIM:234050
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Micro Syndrome
Abnormality of retinal pigmentation, Microcornea, Cataract, Microphthalmia ORPHA:2510
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White forelock, Blue... OMIM:148820
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Microcornea, Irregular hyperpigmentation ORPHA:2505
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Cahmr Syndrome
Lamellar cataract OMIM:211770
Marfan Syndrome
Hypoplasia of the iris, Cataract, Astigmatism, Increased axial length of the globe, Microspheroph... OMIM:154700
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:243310
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Low-set ears OMIM:618718
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Microphthalmia, Pigmentary retinopathy, Iris coloboma OMIM:309801
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Microcornea OMIM:616734
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Lens subluxation, Microphthalmia, Ectopia p... ORPHA:85167
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Joubert Syndrome 22
Microphthalmia OMIM:615665
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Cataract, Iris coloboma OMIM:229400
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Microcornea, Cataract ORPHA:35173
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Cafe-au-lait spot, Optic nerve hypoplasia OMIM:609053
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Hypoplastic helices, Atresia of the external auditory canal, Microtia, Abnormal pinna morphology,... ORPHA:83463
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Chromosome 1Q41-Q42 Deletion Sy