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Gene: Agbl1 MGI:3646469

Gene Summary

Name:

ATP/GTP binding protein-like 1

Synonyms:

Nna1-l1, Ccp4, EG244071

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
increased total body fat amount	Agbl1^em1(IMPC)J	HOM	Late adult	1.93×10^-06
fused cornea and lens	Agbl1^em1(IMPC)J	HOM	Late adult	2.45×10^-07
abnormal optic disk morphology	Agbl1^em1(IMPC)J	HOM	Late adult	9.07×10^-07
persistence of hyaloid vascular system	Agbl1^em1(IMPC)J	HOM	Late adult	3.39×10^-06
abnormal retina blood vessel morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.45×10^-07
abnormal retina vasculature morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.45×10^-07
abnormal vitreous body morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.45×10^-07
iris synechia	Agbl1^em1(IMPC)J	HOM	Late adult	2.79×10^-07
decreased lean body mass	Agbl1^em1(IMPC)J	HOM	Late adult	7.28×10^-06
cataract	Agbl1^em1(IMPC)J	HOM	Late adult	5.14×10^-05
abnormal lens morphology	Agbl1^em1(IMPC)J	HOM	Late adult	2.94×10^-06

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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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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Human diseases caused by Agbl1 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 Agbl1 (2 diseases)
Human diseases predicted to be associated with Agbl1 (577 diseases)

The table below shows human diseases associated to Agbl1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Corneal Dystrophy, Fuchs Endothelial, 8		Corneal dystrophy, Corneal guttata	OMIM:615523
Fuchs Endothelial Corneal Dystrophy		Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974

The table below shows human diseases predicted to be associated to Agbl1 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
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract	OMIM:615995
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
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
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
Optic Atrophy 2	Optic atrophy	OMIM:311050
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy, Claw hand deformity	OMIM:618511
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
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Morm Syndrome	Truncal obesity, Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy, Ankle flexion contracture, Knee flexion contracture	OMIM:615043
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Nathalie Syndrome	Cataract	ORPHA:2663
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
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
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
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
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Trichomegaly	Cataract	OMIM:190330
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Autosomal Recessive Spastic Paraplegia Type 45	Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture	ORPHA:320396
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract	OMIM:601794
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract	ORPHA:363741
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Galactosemia Iv	Cataract	OMIM:618881
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Colobo...	ORPHA:1617
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Galactosemia Ii	Cataract	OMIM:230200
Merrf	Multiple lipomas, Optic atrophy	ORPHA:551
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
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
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Kahrizi Syndrome	Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture	OMIM:612713
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Vaginal hernia	ORPHA:3173
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Arthrogryp...	ORPHA:1466
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co...	OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Striatonigral Degeneration, Infantile	Failure to thrive, Optic atrophy	OMIM:271930
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Optic Atrophy 6	Optic atrophy	OMIM:258500
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Cataract	ORPHA:2278
Nathalie Syndrome	Cataract	OMIM:255990
Spastic Paraplegia 45, Autosomal Recessive	Flexion contracture, Optic atrophy	OMIM:613162
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Failure to thrive, Optic atrophy	OMIM:274270
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Failure to thrive, Attenuation of retinal blood vessels	OMIM:617082
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con...	OMIM:615986
Pontocerebellar Hypoplasia, Type 1E	Elbow flexion contracture, Optic atrophy, Knee flexion contracture	OMIM:619303
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F...	OMIM:609033
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thrive	ORPHA:163937
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia	ORPHA:272
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Cataract, Small for gestational age, Decreased body weight	OMIM:618392
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism, Flexion contracture	OMIM:619328
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Umbilical hernia, Inguinal hernia, Cataract	ORPHA:1373
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Cataract	OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration	OMIM:256730
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Abnormality of macular pigmenta...	ORPHA:97229
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Joint contracture, Cataract, Optic atrophy	OMIM:617481
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Congenital Varicella Syndrome	Atypical scarring of skin, Cataract	ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Maternally-Inherited Diabetes And Deafness	Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology	ORPHA:225
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Developmental cataract, Decreased body weight, Camptodactyly	OMIM:619420
Infantile Refsum Disease	Cataract, Facial palsy, Rod-cone dystrophy, Optic atrophy, Failure to thrive	ORPHA:772
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Stiff Skin Syndrome	Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly	OMIM:184900
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy	OMIM:270800
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
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
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Cataract 47	Microcornea, Cataract	OMIM:612018
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Achondrogenesis Type 2	Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract	ORPHA:93296
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Warburg Micro Syndrome 1	Microcornea, Failure to thrive, Optic atrophy, Developmental cataract	OMIM:600118
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Abnormality of retinal pigmentation, Cataract, Obesity	ORPHA:3085
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Prune1-Related Neurological Syndrome	Retinopathy, Cataract, Optic atrophy	ORPHA:544469
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Aniridia 3	Aniridia, Cataract	OMIM:617142
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn...	ORPHA:101082
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Spastic Paraplegia 75, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:616680
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Corneal opacity	OMIM:617183
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
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
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma	OMIM:610125
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Cataract, Iris hypopigmentation	ORPHA:67048
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma	OMIM:613153
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
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Failure to thrive, Cataract, Optic atrophy	OMIM:612379
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, Flexion contra...	OMIM:619851
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Mitochondrial Complex I Deficiency, Nuclear Type 7	Failure to thrive, Optic atrophy	OMIM:618229
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Infantile Cerebellar-Retinal Degeneration	Failure to thrive, Optic atrophy, Retinal dystrophy, Decreased body weight	OMIM:614559
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Otodental Syndrome	Cataract, Abnormal dental enamel morphology, Lens coloboma, Microcornea, Retinal coloboma, Iris c...	ORPHA:2791
Galactose Mutarotase Deficiency	Failure to thrive, Cataract	ORPHA:570422
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Pellagra-Like Syndrome	Cataract	OMIM:260650
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
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
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Optic atrophy, Failure to thrive, Peripheral demyelination	OMIM:614877
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral a...	ORPHA:457205
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Failure to thrive	OMIM:620157
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Aniridia-Absent Patella Syndrome	Aniridia, Inguinal hernia, Cataract	ORPHA:1069
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Cataract 48	Cataract	OMIM:618415
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Cln3 Disease	Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Spondylo-Ocular Syndrome	Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Axonal degenera...	ORPHA:88628
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
4H Leukodystrophy	Cataract, Optic atrophy	ORPHA:289494
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Optic atrophy	OMIM:300475
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes...	ORPHA:1873
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis, Su...	ORPHA:2969
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Joint ...	OMIM:601110
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Cataract, Flexion contracture, Retinal degeneration	OMIM:615249
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Developmental...	ORPHA:93400
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration, Cataract	OMIM:266500
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Cherry red spot of t...	ORPHA:93399
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Microcephaly, Amish Type	Hypoplasia of the fovea, Flexion contracture, Failure to thrive, Optic atrophy	OMIM:607196
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism	ORPHA:459056
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Flexion contracture, Optic atrophy, Decreased body weight, Failure to ...	OMIM:618346
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
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Full Schwannomatosis	Cataract, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Lipoma	ORPHA:93921
Alg8-Cdg	Cataract, Small for gestational age, Abnormality of subcutaneous fat tissue, Optic atrophy, Campt...	ORPHA:79325
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Rhizomelic Chondrodysplasia Punctata, Type 2	Inguinal hernia, Cataract, Optic nerve hypoplasia, Flexion contracture, Failure to thrive, Zonula...	OMIM:222765
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Unilateral facial palsy, Rod-cone dystrophy, Optic atrophy, Astigmatism	OMIM:618547
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Cataract	ORPHA:1366
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Enamel hypopl...	OMIM:618727
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Cataract	OMIM:614879
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Punctate keratitis, Failure to thrive	ORPHA:92050
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal macular morphology	ORPHA:1493
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Iris coloboma	ORPHA:207
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Optic atrophy, Obesity	OMIM:614651
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Trisomy 13	Cataract, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, He...	ORPHA:3378
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Flexion contracture, Optic atrophy, Sensory axonal neuropathy, Motor axonal ne...	OMIM:609541
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Warburg Micro Syndrome 3	Cataract, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Shallow anteri...	OMIM:614222
Warburg Micro Syndrome 2	Cataract, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea	OMIM:614225
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Developmental cata...	OMIM:615663
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Opto-chiasmatic atrophy, Cataract	OMIM:620089
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Decreased body weight	OMIM:617306
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Cataract, Retinal dystrophy, Congenital diaphragmatic hernia, Hy...	OMIM:222448
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Joint contracture of t...	OMIM:214110
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly	ORPHA:98673
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Isolated Atp Synthase Deficiency	Rod-cone dystrophy, Optic atrophy, Cataract	ORPHA:254913
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Optic atrophy, Facial palsy	OMIM:615085
Oculocerebrofacial Syndrome, Kaufman Type	Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroiderem...	ORPHA:2707
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma	ORPHA:2510
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
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
Zellweger Syndrome	Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots...	ORPHA:912
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Enamel hypoplasia, Failur...	OMIM:610965
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Development...	OMIM:618651
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Stt3B-Cdg	Failure to thrive, Optic atrophy	ORPHA:370924
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Developmental glaucoma, Optic atrophy,...	ORPHA:99956
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract, Cellulitis	OMIM:614878
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy	ORPHA:370997
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
Blau Syndrome	Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Uveitis, Iritis, F...	OMIM:186580
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Uveitis, Failure to thrive, Anterior chamber synechiae	ORPHA:85410
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Cataract, Optic atrophy	ORPHA:543470
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Weight loss	ORPHA:216866
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Small for gestational age, Developmental cataract	OMIM:127000
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Mevalonic Aciduria	Optic disc pallor, Cataract, Failure to thrive in infancy, Nuclear cataract, Failure to thrive, A...	OMIM:610377
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Bardet-Biedl Syndrome 20	Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Rod-cone dystrophy	OMIM:619471
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Flexion contracture, Optic atrophy, Retinal dysplasia	OMIM:253800
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Camptodactyly of toe, Obesity, Aniridia, Iris coloboma	ORPHA:251038
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Foot joint contracture, Scarring, Optic atrophy, U...	ORPHA:90321
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy,...	ORPHA:394
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5...	ORPHA:293967
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Scarring, Retinal vascular proliferation, ...	OMIM:308300
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Optic atrophy, Obesity, Astigmatism	OMIM:618493
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Astigmatism, Optic atrophy	ORPHA:480898
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Failure to thrive, Optic atrophy, Optic neuropathy	OMIM:618249
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Optic atrophy	ORPHA:504476
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:617282
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Abnormality of central somatosensory evoked potentials	OMIM:213700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
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
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Pterygium, Iris coloboma	ORPHA:371428
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi...	OMIM:603671
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Crouzon Syndrome	Keratitis, Conjunctivitis, Optic atrophy	OMIM:123500
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
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Optic atrophy	ORPHA:314404
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Acro-Renal-Ocular Syndrome	Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Colobom...	ORPHA:959
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Congenital diaphragmatic hernia, Pigmentary retinopathy, Peters anomaly, ...	OMIM:309801
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Small for gestational age, Abnormal peripheral myelination, ...	OMIM:133540
Oculodentodigital Dysplasia	Cataract, Abnormal dental enamel morphology, Camptodactyly of finger, Optic atrophy, Abnormality ...	ORPHA:2710
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic...	ORPHA:233
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Developmental c...	OMIM:300166
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Cataract, Abnormal periphe...	OMIM:216400
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Fl...	ORPHA:90324
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Jacobsen Syndrome	Flexion contracture, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Fail...	OMIM:147791
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Failure to thrive	OMIM:619869
Cockayne Syndrome	Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retin...	ORPHA:191
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy	ORPHA:95433
Aicardi Syndrome	Retinal detachment, Cataract, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Optic at...	OMIM:304050
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Optic atrophy	OMIM:201180
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Developmental cataract	ORPHA:93325
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy...	OMIM:606721
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti...	ORPHA:50
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Blau Syndrome	Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morphology, Retrobulba...	ORPHA:90340
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
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
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
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
7Q11.23 Microduplication Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Obesity, Abnormal optic disc morphology, Astigm...	ORPHA:96121
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Failure to thrive, Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
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
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology	ORPHA:91387
Leptospirosis	Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Optic neuritis, Macular cotton wool sp...	ORPHA:509

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 Agbl1

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 Agbl1.

No publications found that use IMPC mice or data for Agbl1.

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MGI Allele	Allele Type	Produced
Agbl1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Agbl1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Agbl1^em1(IMPC)J	Exon Deletion	Mice

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: Agbl1 MGI:3646469

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Eye Morphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Agbl1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data