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Gene: Olfml2b MGI:2443310

Gene Summary

Name:

olfactomedin-like 2B

Synonyms:

photomedin-2, 1110018N05Rik, 4832415H08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal optic disk morphology	Olfml2b^em1(IMPC)J	HOM	Late adult	5.68×10^-11
abnormal vitreous body morphology	Olfml2b^em1(IMPC)J	HOM	Late adult	3.92×10^-11
persistence of hyaloid vascular system	Olfml2b^em1(IMPC)J	HOM	Late adult	2.53×10^-10
decreased grip strength	Olfml2b^em1(IMPC)J	HOM	Late adult	4.35×10^-05
iris synechia	Olfml2b^em1(IMPC)J	HOM	Late adult	2.67×10^-11
cataract	Olfml2b^em1(IMPC)J	HOM	Late adult	1.20×10^-09
abnormal lens morphology	Olfml2b^em1(IMPC)J	HOM	Late adult	7.79×10^-13
abnormal retina vasculature morphology	Olfml2b^em1(IMPC)J	HOM	Late adult	3.92×10^-11
abnormal retina blood vessel morphology	Olfml2b^em1(IMPC)J	HOM	Late adult	3.92×10^-11
fused cornea and lens	Olfml2b^em1(IMPC)J	HOM	Late adult	3.92×10^-11

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Sleep Wake

Wake state (bmp file)

4 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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Auditory Brain Stem Response

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

6 Images

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Electroretinography 2

Rod and cone PDF

3 Images

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Human diseases caused by Olfml2b 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.

Human diseases associated with Olfml2b (0 diseases)
Human diseases predicted to be associated with Olfml2b (558 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Olfml2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Optic Atrophy 2	Optic atrophy	OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Nathalie Syndrome	Cataract	ORPHA:2663
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy	OMIM:618511
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Trichomegaly	Cataract	OMIM:190330
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Galactosemia Iv	Cataract	OMIM:618881
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Galactosemia Ii	Cataract	OMIM:230200
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Optic Atrophy 6	Optic atrophy	OMIM:258500
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy	OMIM:611726
Nathalie Syndrome	Cataract	OMIM:255990
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
2Q24 Microdeletion Syndrome	Coloboma, Cataract, Abnormality iris morphology	ORPHA:1617
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:1466
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Camos Syndrome	Optic atrophy	ORPHA:83472
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Cataract	OMIM:614307
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Merrf	Optic atrophy	ORPHA:551
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Cataract 47	Microcornea, Cataract	OMIM:612018
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Maternally-Inherited Diabetes And Deafness	Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology	ORPHA:225
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O...	OMIM:609033
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy	OMIM:270800
Aniridia 3	Aniridia, Cataract	OMIM:617142
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Achondrogenesis Type 2	Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract	ORPHA:93296
Flynn-Aird Syndrome	Rod-cone dystrophy, Cataract	OMIM:136300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Abnormality of macular pigmentation, Abno...	ORPHA:97229
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Optic atrophy	OMIM:617481
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Prune1-Related Neurological Syndrome	Retinopathy, Cataract, Optic atrophy	ORPHA:544469
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn...	ORPHA:101082
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma	OMIM:610125
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Facial palsy, Cataract	ORPHA:772
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Spastic Paraplegia 75, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:616680
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Corneal opacity	OMIM:617183
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Optic atrophy	OMIM:617086
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma	OMIM:613153
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Warburg Micro Syndrome 1	Microcornea, Optic atrophy, Developmental cataract	OMIM:600118
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Pellagra-Like Syndrome	Cataract	OMIM:260650
Congenital Varicella Syndrome	Cataract	ORPHA:291
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Cataract 48	Cataract	OMIM:618415
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Spondylo-Ocular Syndrome	Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Cln3 Disease	Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Cataract, Optic atrophy	OMIM:612379
4H Leukodystrophy	Cataract, Optic atrophy	ORPHA:289494
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration, Cataract	OMIM:266500
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism	ORPHA:459056
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract	OMIM:619851
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Retinal dystrophy, Peripheral demyelination, Cataract	OMIM:614877
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:2715
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Axonal degeneration, Pigmentary retinopathy, A...	ORPHA:88628
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy	OMIM:613151
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Cataract	OMIM:614879
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Cataract, Retinal degeneration	OMIM:615249
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Unilateral facial palsy, Rod-cone dystrophy, Optic atrophy, Astigmatism	OMIM:618547
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal macular morphology	ORPHA:1493
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Iris coloboma	ORPHA:207
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Opto-chiasmatic atrophy, Cataract	OMIM:620089
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow...	ORPHA:93400
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly	ORPHA:98673
Juvenile Sialidosis Type 2	Cherry red spot of the macula, Cataract, Optic atrophy, Corneal opacity	ORPHA:93399
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Isolated Atp Synthase Deficiency	Rod-cone dystrophy, Optic atrophy, Cataract	ORPHA:254913
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma	ORPHA:494344
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber	OMIM:614222
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Warburg Micro Syndrome 2	Microcornea, Cataract, Optic atrophy, Developmental cataract	OMIM:614225
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Microcornea, Optic atrophy, Developmental cataract	OMIM:615663
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma	ORPHA:2510
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Congenital Tufting Enteropathy	Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract	ORPHA:92050
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Coloboma	OMIM:617306
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy	OMIM:609541
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration	OMIM:249270
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy	ORPHA:370997
Oculocerebrofacial Syndrome, Kaufman Type	Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia	ORPHA:2707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Developmental glaucoma, Optic atrophy,...	ORPHA:99956
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma	OMIM:222448
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po...	ORPHA:912
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn...	OMIM:186580
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Optic atrophy	ORPHA:543470
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Astigmatism, Optic atrophy	ORPHA:480898
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Developmental cataract	OMIM:127000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia	OMIM:253800
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Abnormality of central somatosensory evoked potentials	OMIM:213700
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness	ORPHA:293967
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Astigmatism	OMIM:619471
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy	OMIM:616811
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,...	OMIM:308300
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy	ORPHA:394
Crouzon Syndrome	Keratitis, Conjunctivitis, Optic atrophy	OMIM:123500
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Optic atrophy	ORPHA:314404
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract	ORPHA:45358
Acro-Renal-Ocular Syndrome	Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Colobom...	ORPHA:959
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Xfe Progeroid Syndrome	Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels	OMIM:610965
Halperin-Birk Syndrome	Optic atrophy, Developmental cataract	OMIM:618651
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy	ORPHA:95433
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Facial Spasm	Anisocoria	OMIM:134300
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic...	ORPHA:233
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Optic atrophy	OMIM:201180
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Re...	ORPHA:90324
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma	OMIM:206900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Oculodentodigital Dysplasia	Microcornea, Cataract, Optic atrophy, Abnormality iris morphology	ORPHA:2710
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Developmental cataract	ORPHA:93325
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy	OMIM:617913
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina...	ORPHA:141099
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy...	ORPHA:564
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Astigmatism, Cataract	OMIM:619268
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology, Astigmatism	ORPHA:96121
Leptospirosis	Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Optic neuritis, Macular cotton wool sp...	ORPHA:509
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Olfml2b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Olfml2b.

No publications found that use IMPC mice or data for Olfml2b.

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MGI Allele	Allele Type	Produced
Olfml2b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Olfml2b^em1(IMPC)J	Exon Deletion	Mice
Olfml2b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Olfml2b MGI:2443310

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Sleep Wake

X-ray

Eye Morphology

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Olfml2b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data