Gene Summary

Name:
ATP/GTP binding protein-like 1
Synonyms:
Nna1-l1,  Ccp4,  EG244071

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina blood vessel morphology Agbl1em1(IMPC)J HOM   Late adult 8.93×10-07
fused cornea and lens Agbl1em1(IMPC)J HOM Late adult 9.63×10-05
increased total body fat amount Agbl1em1(IMPC)J HOM Late adult 1.70×10-06
persistence of hyaloid vascular system Agbl1em1(IMPC)J HOM   Late adult 3.81×10-06
decreased lean body mass Agbl1em1(IMPC)J HOM Late adult 1.32×10-05
abnormal lens morphology Agbl1em1(IMPC)J HOM Late adult 2.45×10-06
abnormal retina vasculature morphology Agbl1em1(IMPC)J HOM Late adult 9.63×10-05
abnormal optic disk morphology Agbl1em1(IMPC)J HOM   Late adult 8.93×10-07
iris synechia Agbl1em1(IMPC)J HOM   Late adult 2.89×10-07
cataract Agbl1em1(IMPC)J HOM Late adult 4.54×10-05
abnormal vitreous body morphology Agbl1em1(IMPC)J HOM Late adult 9.63×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

8 Images

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.

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 OMIM:615523
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974

The table below shows human diseases predicted to be associated to Agbl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
X-Linked Retinoschisis
Cataract, Retinoschisis 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
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Aniridia 3
Cataract OMIM:617142
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Anterior uveitis, Catarac... ORPHA:279914
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Morm Syndrome
Truncal obesity, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Idiopathic Anterior Uveitis
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... ORPHA:280914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia, Flexion contracture OMIM:613154
Optic Atrophy 5
Optic atrophy OMIM:610708
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Obesity, ... OMIM:616188
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy OMIM:617087
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma OMIM:615147
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:612572
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... OMIM:120200
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Trichomegaly
Cataract OMIM:190330
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Flexion contracture OMIM:616881
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment, Inguinal hernia OMIM:157150
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture ORPHA:171860
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture ORPHA:320396
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Optic atrophy, Cataract OMIM:204200
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age OMIM:212540
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Leber Congenital Amaurosis 9
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... OMIM:608553
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Cataract, Rod-cone dystrophy OMIM:601794
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Obesity, Cataract, Rod-cone dystrophy ORPHA:363741
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
2Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Camptodactyly of finger, Coloboma, Cataract, Abnorm... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Kahrizi Syndrome
Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture OMIM:612713
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... ORPHA:98977
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Keratoc... ORPHA:791
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy, Truncal obesity OMIM:268050
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... OMIM:600132
Galactosemia Ii
Cataract OMIM:230200
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Merrf
Optic atrophy, Multiple lipomas ORPHA:551
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:616469
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Cataract, Retinal dystrophy OMIM:614877
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:248000
Periventricular Nodular Heterotopia 7
Optic atrophy, Flexion contracture OMIM:617201
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:617304
Cofs Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger, Optic atrophy, Cataract, Arthrogryp... ORPHA:1466
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Martsolf Syndrome 2
Decreased body weight, Camptodactyly of finger, Camptodactyly, Cataract, Developmental cataract OMIM:619420
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Flexion contracture OMIM:613162
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... OMIM:615233
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy, Cat... OMIM:612674
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema ORPHA:3456
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe OMIM:619323
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy, Flexion contracture OMIM:614255
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Coloboma OMIM:274270
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contracture, Onio... OMIM:609260
Camos Syndrome
Optic atrophy ORPHA:83472
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, J... OMIM:609033
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity ORPHA:104
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Astigmatism ORPHA:250984
Nathalie Syndrome
Cataract OMIM:255990
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Truncal obesity, ... OMIM:615986
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Congenital Hydrocephalus
Optic atrophy, Iris coloboma, Macular hypoplasia ORPHA:2185
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy OMIM:619389
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Jalili Syndrome
Optic disc pallor, Amelogenesis imperfecta, Cone/cone-rod dystrophy OMIM:217080
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Elbow flexion contracture, Knee flexion contracture OMIM:619303
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Coloboma OMIM:120433
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Flexion contracture, Astigmatism OMIM:619328
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Camptodactyly of finger, Optic atrophy, Cataract, Retinal dysplasia ORPHA:272
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
X-Linked Intellectual Disability, Najm Type
Failure to thrive, Optic nerve hypoplasia, Optic atrophy, Cataract, Chorioretinal coloboma ORPHA:163937
Optic Atrophy 9
Optic atrophy OMIM:616289
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Cone dystrophy OMIM:268040
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Flexion contracture, Retinal degeneration, Macular degeneration OMIM:256730
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Inguinal hernia, Umbilical hernia ORPHA:1373
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Cataract 11, Multiple Types
Cataract OMIM:610623
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Coats Disease
Exudative retinal detachment, Retinal telangiectasia, Leukocoria OMIM:300216
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
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:616680
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cataract, Progressive flexion contractures OMIM:617481
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract ORPHA:291
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Cachexia, Iris... ORPHA:97229
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Cataract, Asteroid hyalosis OMIM:132450
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Maternally-Inherited Diabetes And Deafness
Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology ORPHA:225
Behr Syndrome
Optic atrophy, Hamstring contractures, Adductor longus contractures, Achilles tendon contracture OMIM:210000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Cataract, Optic disc hypoplasia ORPHA:324737
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Panuveitis, Papi... ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract OMIM:615181
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Flexion contracture OMIM:618324
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Cataract, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Infantile Refsum Disease
Failure to thrive, Rod-cone dystrophy, Optic atrophy, Cataract, Facial palsy ORPHA:772
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Peripheral axonal neuropathy, Flexion contra... OMIM:619851
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... OMIM:268315
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Cataract, Abnormal vitreous humor morphology ORPHA:93296
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Cataract 47
Cataract, Microcornea OMIM:612018
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Warburg Micro Syndrome 1
Optic atrophy, Failure to thrive, Developmental cataract, Microcornea OMIM:600118
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve ORPHA:33445
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Iris coloboma ORPHA:869
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Abnormality of retinal pigmentation, Cataract ORPHA:3085
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Retinopathy, Iris coloboma, Cataract ORPHA:2611
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Failure to thrive OMIM:618229
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Failure to thrive OMIM:618228
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Abnormal pupil morphology, Decreased nerve conduction velocity, Per... ORPHA:101082
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Peripheral axonal neuropathy, Developmental cataract OMIM:617183
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract OMIM:614219
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Failure to thrive, Cataract ORPHA:67048
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Cataract OMIM:619527
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Retinal detachment, Cataract, Coloboma OMIM:613153
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Coloboma, Cataract OMIM:610125
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Megalocornea, Retinal detachment, Coloboma, Optic atrophy, Cataract, Abno... ORPHA:370959
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Failure to thrive, Flexion contracture OMIM:618237
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Failure to thrive, Cataract, Coloboma OMIM:612379
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture OMIM:619470
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism OMIM:617523
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Spastic Paraplegia 2, X-Linked
Optic atrophy, Flexion contracture OMIM:312920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... ORPHA:457205
Otodental Syndrome
Abnormal dental enamel morphology, Retinal coloboma, Microcornea, Iris coloboma, Cataract, Lens c... ORPHA:2791
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Failure to thrive, Decreased body weight, Retinal dystrophy OMIM:614559
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Pellagra-Like Syndrome
Cataract OMIM:260650
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Camptodactyly of finger, Retinal degeneration OMIM:214980
Muscle-Eye-Brain Disease
Optic atrophy, Cataract ORPHA:588
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Abnormality of retinal pigmentation ORPHA:290
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cataract, Aniridia ORPHA:1069
Congenital Disorder Of Glycosylation, Type Id
Failure to thrive, Joint contracture of the hand, Flexion contracture, Optic atrophy, Iris colobo... OMIM:601110
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Spondylo-Ocular Syndrome
Iris hypopigmentation, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy, Cataract ORPHA:496790
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, C... ORPHA:88628
Refsum Disease, Classic
Cataract, Retinal degeneration, Rod-cone dystrophy OMIM:266500
4H Leukodystrophy
Optic atrophy, Cataract ORPHA:289494
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Small for gestational age OMIM:614702
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Proximal Myotonic Myopathy
Cataract ORPHA:606
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Failure to thrive, Aplasia of the left hemidiaphragm OMIM:618238
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age OMIM:619057
Warburg Micro Syndrome 2
Flexion contracture, Microcornea, Optic atrophy, Cataract, Developmental cataract OMIM:614225
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Amelogenesis imperfecta, Abnormal dental enam... ORPHA:1873
Achromatopsia 2
Absent foveal reflex, Dull foveal reflex, Myopic astigmatism, Retinal thinning, Hypoplasia of the... OMIM:216900
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... ORPHA:280234
Proteus-Like Syndrome
Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Shagreen patch, Cataract, Heteroch... ORPHA:2969
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor, Failure to thrive OMIM:617954
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Failure to thrive OMIM:619310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Retinal degeneration, Flexion contracture, Coloboma OMIM:615249
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Walker-Warburg Syndrome
Corneal opacity, Retinal detachment, Microcornea, Retinal dystrophy, Optic atrophy, Iris coloboma... ORPHA:899
Warburg Micro Syndrome 3
Shallow anterior chamber, Flexion contracture, Microcornea, Optic atrophy, Cataract, Developmenta... OMIM:614222
Sturge-Weber Syndrome
Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiectasia, Abnormal c... ORPHA:3205
Congenital Sialidosis Type 2
Corneal opacity, Cherry red spot of the macula, Inguinal hernia, Yellow/white lesions of the reti... ORPHA:93400
Juvenile Sialidosis Type 2
Corneal opacity, Cherry red spot of the macula, Inguinal hernia, Optic atrophy, Cataract, Umbilic... ORPHA:93399
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Joint contracture of the hand, Peripheral demyelination OMIM:258650
Multiple Sulfatase Deficiency
Corneal opacity, Abnormality of retinal pigmentation, Optic atrophy, Cataract, Abnormality of per... ORPHA:585
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Cataract ORPHA:1914
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Distal Monosomy 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Autosomal Recessive Spastic Paraplegia Type 75
Temporal optic disc pallor, Astigmatism ORPHA:459056
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Failure to thrive, Decreased body weight, Flexion contracture, Small for gestational age, Optic a... OMIM:618346
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Iris coloboma, Macular hypoplasia OMIM:615219
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build ORPHA:505216
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology ORPHA:2715
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma OMIM:169550
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Facial palsy OMIM:615085
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Inguinal hernia, Congenital finger flexion contractures ORPHA:1154
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Enamel hypoplasia, Cataract, Scarring alopecia of s... OMIM:618727
Vici Syndrome
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Cataract ORPHA:1493
Alg8-Cdg
Failure to thrive, Small for gestational age, Retinopathy, Camptodactyly, Optic atrophy, Cataract... ORPHA:79325
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture ORPHA:141
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Cataract ORPHA:1366
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:614498
Crouzon Syndrome
Optic atrophy, Iris coloboma, Conjunctivitis ORPHA:207
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Neuroma, Bilateral vestibular schwannoma, Facial palsy, ... ORPHA:637
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682