Gene: Agbl1 MGI:3646469

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Gene Summary

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

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 retinal vasculature morphology Agbl1em1(IMPC)J HOM   Late adult 9.95×10-08
hypoactivity Agbl1em1(IMPC)J HOM Late adult 9.85×10-05
abnormal lens morphology Agbl1em1(IMPC)J HOM Late adult 2.58×10-06
abnormal retinal blood vessel morphology Agbl1em1(IMPC)J HOM   Late adult 9.95×10-08
iris synechia Agbl1em1(IMPC)J HOM   Late adult 6.60×10-08
abnormal optic disk morphology Agbl1em1(IMPC)J HOM   Late adult 3.82×10-07
decreased lean body mass Agbl1em1(IMPC)J HOM Late adult 9.77×10-06
increased total body fat amount Agbl1em1(IMPC)J HOM Late adult 7.96×10-07
abnormal vitreous body morphology Agbl1em1(IMPC)J HOM   Late adult 9.95×10-08
fused cornea and lens Agbl1em1(IMPC)J HOM   Late adult 9.95×10-08
persistence of hyaloid vascular system Agbl1em1(IMPC)J HOM   Late adult 1.39×10-06
cataract Agbl1em1(IMPC)J HOM Late adult 4.83×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

18 Images

Eye Morphology

Images Ophthalmoscopy

1 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

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
Cataract, Optic atrophy ORPHA:2253
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Spastic ataxia, Gait disturbance, Ataxia, Optic atrophy, Corneal dystrophy ORPHA:2572
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Aniridia 3
Cataract OMIM:617142
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Optic atrophy OMIM:615658
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy, Ataxia ORPHA:2732
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Ceroid Lipofuscinosis, Neuronal, 9
Progressive inability to walk, Optic atrophy, Rod-cone dystrophy, Ataxia OMIM:609055
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Cataract, Spastic gait, Gait ataxia OMIM:617133
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy, Flexion contracture OMIM:613154
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Optic Atrophy 5
Optic atrophy OMIM:610708
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy OMIM:613672
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Autosomal Recessive Spastic Paraplegia Type 45
Flexion contracture of toe, Spastic gait, Knee flexion contracture, Optic atrophy, Ankle flexion ... ORPHA:320396
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Optic atrophy, Flexion contracture, Ataxia OMIM:616881
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Progressive inability to walk, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Nathalie Syndrome
Cataract ORPHA:2663
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:2815
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Ataxia, Sensory axonal neuropathy ORPHA:329314
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Ataxia OMIM:608611
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Merrf
Optic atrophy, Multiple lipomas, Ataxia ORPHA:551
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Failure to thrive OMIM:271930
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Peroxisome Biogenesis Disorder 8B
Ataxia, Retinal dystrophy, Cataract, Dysmetria, Failure to thrive, Optic atrophy OMIM:614877
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Trichomegaly
Cataract OMIM:190330
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Coloboma, Failure to thrive, Hyperactivity, Optic atrophy OMIM:274270
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Autosomal Dominant Keratitis
Aniridia, Coloboma, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the co... ORPHA:2334
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Optic atrophy OMIM:616859
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Arthrogryposis multiplex congenita, Small for gestational age, Failure to thrive OMIM:212540
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cataract, Flexion contracture, Failure to thrive OMIM:617393
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Achilles tendon contracture, Subcapsular cataract, Dysmetria, Decreased nerve conduction ... OMIM:612674
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Spastic gait, Optic atrophy, Limb dysmetria OMIM:270800
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Bradykinesia, Hemidystonia OMIM:619052
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy, Flexion contracture OMIM:613162
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contracture ORPHA:171860
Mucolipidosis Iv
Dystonia, Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy OMIM:252650
Behr Syndrome
Gait disturbance, Ataxia, Achilles tendon contracture, Adductor longus contractures, Dysmetria, H... OMIM:210000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Hyperactivity ORPHA:85288
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Retinopathy ORPHA:385
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy, Obesity OMIM:601794
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Usher Syndrome, Type Iiib
Optic disc pallor, Truncal ataxia, Ataxia OMIM:614504
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Ataxia OMIM:610951
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Nescav Syndrome
Inability to walk, Optic atrophy, Peripheral axonal neuropathy, Flexion contracture OMIM:614255
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Atypical scarring of skin, Cataract, Abnormal r... ORPHA:791
Optic Atrophy With Demyelinating Disease Of Cns
Peripheral demyelination, Optic atrophy, Ataxia, Optic neuritis OMIM:165200
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy, Obesity ORPHA:363741
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Gait ataxia, Flexion contracture of toe, Optic atrophy OMIM:619323
Galactosemia Iv
Cataract OMIM:618881
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy ORPHA:3156
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormality iris morphology, Coloboma, Cataract, Small for gestational a... ORPHA:1617
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uveitis, Vitreoretinop... OMIM:193235
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Truncal obesity, Pigmentary retinopathy OMIM:268050
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Juvenile Glaucoma
Retinal vein occlusion, Abnormality iris morphology, Temporal optic disc pallor, Abnormality of t... ORPHA:98977
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Spastic Paraplegia 55, Autosomal Recessive
Difficulty walking, Onion bulb formation, Peripheral axonal neuropathy, Steppage gait, Optic atrophy OMIM:615035
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Gait disturbance, Craniofacial dystonia, Ataxia, Optic atrophy OMIM:617282
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Periventricular Nodular Heterotopia 7
Optic atrophy, Flexion contracture OMIM:617201
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Gait disturbance, Onion bulb formation, Optic a... OMIM:311070
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Gait disturbance, Toe walking, Increased adipose tissue OMIM:617404
Galactosemia Ii
Cataract OMIM:230200
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy OMIM:617830
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia ORPHA:1171
Developmental And Epileptic Encephalopathy 93
Inability to walk, Gait disturbance, Optic atrophy, Iris coloboma OMIM:618012
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Kahrizi Syndrome
Cataract, Elbow flexion contracture, Iris coloboma, Knee flexion contracture OMIM:612713
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Pigmentary retinopath... OMIM:609033
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Astigmatism, Flexion contracture, Optic disc pallor OMIM:619328
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Gait disturbance, Cataract, Optic nerve hypoplasia, Failure to thrive, Op... ORPHA:163937
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Ataxia, Retinal vascular tortuosity ORPHA:104
Ceroid Lipofuscinosis, Neuronal, 1
Flexion contracture, Ataxia, Retinal degeneration, Optic atrophy, Macular degeneration OMIM:256730
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Flexion contracture, Retinal dysplasia, Cataract, Opti... ORPHA:272
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Lens subluxation ORPHA:3456
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Ataxia OMIM:614879
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy, Optic atrophy OMIM:618228
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Cataract, Progressive cerebellar ataxia, To... ORPHA:284289
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy, Dysmetria OMIM:616680
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Inguinal hernia, Cigarette-paper scars OMIM:608763
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Gait ataxia, Truncal ataxia, Episodic ataxia, Dysmetria, Optic atrophy OMIM:601338
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Optic atrophy, Retinal vascular tortuosity OMIM:618768
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Flexion contracture OMIM:300884
Optic Atrophy 6
Optic atrophy OMIM:258500
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physi... ORPHA:97229
Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Ataxia, Peripheral axonal neuropathy, Optic atrophy OMIM:615673
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Truncal obesity, Astigmatis... OMIM:615986
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Gait disturbance, Iris coloboma, Microcornea, Anterior synechiae of the an... ORPHA:3214
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Ataxia, Cataract, Retinopathy, Macular dystrophy ORPHA:225
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Optic atrophy, Flexion contracture OMIM:618324
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Vitreoretinopathy, Retinal detachment ORPHA:250984
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Optic disc p... ORPHA:98890
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
1Q21.1 Microduplication Syndrome
Cataract, Failure to thrive, Arthrogryposis multiplex congenita, Attention deficit hyperactivity ... ORPHA:250994
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia ORPHA:3151
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Developmental And Epileptic Encephalopathy 16
Dystonia, Optic atrophy OMIM:615338
Infantile Refsum Disease
Ataxia, Cataract, Facial palsy, Failure to thrive, Optic atrophy, Rod-cone dystrophy ORPHA:772
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Optic atrophy, Ataxia OMIM:230600
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Ataxia OMIM:617207
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive ORPHA:2278
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Cataract, Dysmetria, Failure to thrive, Optic atrophy OMIM:617988
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia, Ataxia, Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity OMIM:300983
Leber Congenital Amaurosis 14
Falls, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Optic atrophy, Ataxia, Obesity OMIM:614947
Optic Atrophy 9
Optic atrophy OMIM:616289
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Dysmetria, Failure to thrive, Optic disc pallor OMIM:617954
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy, Ataxia OMIM:136300
Jalili Syndrome
Cone/cone-rod dystrophy, Amelogenesis imperfecta, Optic disc pallor OMIM:217080
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Progressive cerebellar ataxia, Dysmetria, Optic atrophy, Macular degenera... OMIM:164500
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Neuroectodermal Melanolysosomal Disease
Ataxia, Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular ... ORPHA:33445
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Elbow flexion contracture, Knee flexion contracture OMIM:619303
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Nathalie Syndrome
Cataract OMIM:255990
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Progressive gait ataxia, Ataxia, Cataract, Dysmetria, Optic atrophy ORPHA:289494
Xeroderma Pigmentosum, Complementation Group G
Cataract, Ataxia OMIM:278780
Atypical Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Focal dystonia, Limb dystonia, Oromandibular dystonia, Optic atrophy, Retinopathy ORPHA:216873
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Coloboma OMIM:120433
Isolated Oxycephaly
Papilledema ORPHA:63440
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Ataxia, Peripheral de... ORPHA:280234
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Joint contractures involving the joints of ... ORPHA:457205
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Spastic Paraplegia 2, X-Linked
Spastic gait, Optic atrophy, Flexion contracture, Dysmetria OMIM:312920
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic atrophy OMIM:617086
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Gait disturbance ORPHA:1875
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cataract, Dysmetria, Broad-based gait OMIM:224050
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Failure to thrive, Optic atrophy ORPHA:26792
Cataract 11, Multiple Types
Cataract OMIM:610623
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Gait ataxia, Joint contracture of the hand, Peripheral demyelination, Optic atrophy, Broad-based ... OMIM:258650
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Spastic ataxia, Optic atrophy, Dysmetria, Broad-based gait OMIM:270500
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Progressive flexion contractures OMIM:617481
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Ataxia OMIM:258501
Axial Spondylometaphyseal Dysplasia
Astigmatism, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Flexion contracture, Ataxia, Dysmetria, Optic di... OMIM:616204
Triple A Syndrome
Optic atrophy, Iris coloboma, Ataxia, Motor axonal neuropathy ORPHA:869
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Obesity OMIM:615418
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Optic atrophy, Microcornea, Scarring alopecia of scalp ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Coloboma, Retinal detachment OMIM:613153
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Panuveitis, Intermediate uveitis, Papilledema, Anterior cham... ORPHA:91500
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Optic atrophy ORPHA:352596
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Optic atrophy, Ataxia, Retinal degeneration OMIM:214980
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment OMIM:615181
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Flexion contracture of finger, Pigmentary retinopathy, Gait disturbance, Camptodacty... ORPHA:88628
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Warburg Micro Syndrome 1
Developmental cataract, Optic atrophy, Microcornea, Failure to thrive OMIM:600118
Cherubism
Optic atrophy ORPHA:184
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Optic atrophy, Small for gestational age, Failure to thrive OMIM:614702
Optic Atrophy 1
Optic atrophy, Ataxia OMIM:165500
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Cataract, Knee flexion contracture, Elbow flexion contracture OMIM:184900
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Inguinal hernia, Umbilical hernia ORPHA:1373
Muscle-Eye-Brain Disease
Cataract, Gait disturbance, Optic atrophy ORPHA:588
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation, Keloids, Obesity ORPHA:3085
Neonatal Adrenoleukodystrophy
Cataract, Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Juvenile Sialidosis Type 2
Loss of ability to walk, Corneal opacity, Ataxia, Umbilical hernia, Cataract, Inguinal hernia, Dy... ORPHA:93399
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy OMIM:617669
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Cataract, Abnormal cornea morphology, Retinopathy ORPHA:2611
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Dystonia, Optic atrophy, Failure to thrive OMIM:618238
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Flexion contracture, Failure to thrive, Peripheral demyelination, Optic atrophy OMIM:618237
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria ORPHA:2714
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Failure to thrive OMIM:618229
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Corneal opacity, Cataract, Spastic gait, Optic nerve hypoplasia, Peripheral axonal n... ORPHA:496790
Optic Atrophy 11
Ataxia, Dysmetria, Optic atrophy, Hyperactivity, Facial diplegia OMIM:617302
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Oculogyric crisis, Optic atrophy ORPHA:330050
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract, Ataxia ORPHA:231183
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Pigmentary retinopathy, Gait disturbance, Toe walking, Weight loss, Optic disc... ORPHA:216866
Refsum Disease, Classic
Cataract, Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Ataxia, Cataract, Microcornea, Dysmetria, Motor axonal neuropathy, Abnor... ORPHA:48431
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Retinal arteriolar tortuosi... ORPHA:644
Cataract 47
Cataract, Microcornea OMIM:612018
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Progressive gait ataxia, Difficulty walking, Prog... ORPHA:363429
Severe Canavan Disease
Inability to walk, Lethargy, Optic atrophy ORPHA:314911
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Failure to thrive, Optic atrophy OMIM:618226
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Iris colobom... ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Dystonia, Decreased nerve conduction velocity OMIM:614932
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Usher Syndrome Type 1
Iris hypopigmentation, Abnormal dental enamel morphology, Cataract, Ataxia ORPHA:231169
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradykinesia ORPHA:329284
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Ataxia, Retinal degeneration, Cataract, Ab... OMIM:619260
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive OMIM:609056
Congenital Sialidosis Type 2
Developmental cataract, Yellow/white lesions of the retina, Corneal opacity, Ataxia, Umbilical he... ORPHA:93400
Phenylketonuria
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Aniridia 2
Cataract, Aniridia OMIM:617141
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Failure to thrive OMIM:617228
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Cataract, Spastic gait, Dysmetria OMIM:609195
Lamb-Shaffer Syndrome
Optic atrophy OMIM:616803
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Adams-Oliver Syndrome 2
Developmental cataract, Optic atrophy OMIM:614219
Leber Optic Atrophy
Dystonia, Central retinal vessel vascular tortuosity, Ataxia, Optic neuropathy, Leber optic atrop... OMIM:535000
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination, Abnormal pupil morphology, Decreased ner... ORPHA:101082
Laurence-Moon Syndrome
Cataract, Iris coloboma, Ataxia, Obesity ORPHA:2377
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Ataxia OMIM:617121
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Coloboma, Cataract, Megalocornea, Optic nerve hypoplasia, Retinal de... ORPHA:370959
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Optic neuritis, Ataxia, Bradykinesia, Sensory axonal neuropathy, Fac... ORPHA:254886
Filippi Syndrome
Dystonia, Optic atrophy, Decreased body weight OMIM:272440
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Gait ataxia, Dysmetria, Optic atrophy OMIM:617810
Baralle-Macken Syndrome
Inability to walk, Cataract, Dystonia, Obesity OMIM:619255
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Leigh Syndrome With Leukodystrophy
Dystonia, Pigmentary retinopathy, Progressive cerebellar ataxia, Failure to thrive, Optic atrophy ORPHA:255241
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microcornea OMIM:610125
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Abnormal choroid morphology, Ab... ORPHA:3205
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Optic atrophy OMIM:605259
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Optic disc pallor OMIM:617523
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Autosomal Recessive Spastic Paraplegia Type 75
Astigmatism, Dysmetria, Temporal optic disc pallor ORPHA:459056
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Gait disturbance, Optic atrophy, Ataxia OMIM:125250
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Pigmentary retinopathy, Flexion contracture, Ataxia, Optic atrophy OMIM:252011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Progressive cerebellar ataxia, Multiple joint contractures, Dysm... ORPHA:504476
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Sclerocornea ORPHA:139471
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Leukodystrophy, Hypomyelinating, 21
Dystonia, Ataxia, Failure to thrive, Athetosis, Optic atrophy OMIM:619310
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Leber optic atrophy, Athetosis, Optic atrophy OMIM:500001
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Optic atrophy, Failure to thrive OMIM:300475
Otodental Syndrome
Abnormal dental enamel morphology, Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Micr... ORPHA:2791
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Unsteady gait, Dystonia, Optic atrophy, Ataxia OMIM:245349
Spondylo-Ocular Syndrome
Iris hypopigmentation, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Unilateral facial palsy, Torticollis, Astigmatism, Optic atrophy, Rod-cone dystrophy OMIM:618547
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Optic atrophy ORPHA:254343
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Flexion contracture, Iris coloboma, Failure to thrive, Joint ... OMIM:601110
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Arthrogryposis multiplex congenita, Optic atrophy OMIM:618766
Alg8-Cdg
Cataract ORPHA:79325
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Difficulty walking, Ataxia, Dysmetria, Optic atrophy OMIM:612319
Pontocerebellar Hypoplasia Type 10
Optic atrophy ORPHA:411493
Leukodystrophy, Hypomyelinating, 6
Dystonia, Optic atrophy, Ataxia OMIM:612438
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment ORPHA:1856
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Gait disturbance, Ataxia, Morning glory anomaly, Cataract, Optic atrophy ORPHA:98673
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Cataract, Optic atrophy OMIM:617913
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Ataxia, Peripheral axonal neuropathy, Optic atrophy ORPHA:401768
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Gait disturbance, Loss of ability to walk, Ataxia, Failure to thrive, Opti... ORPHA:225154
Cach Syndrome
Arthrogryposis multiplex congenita, Truncal ataxia, Limb ataxia, Flexion contracture, Optic neuri... ORPHA:135
Sarcosinemia
Optic atrophy, Ataxia ORPHA:3129
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... ORPHA:1215
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology ORPHA:2119
Hsd10 Disease
Gait disturbance, Optic atrophy, Ataxia ORPHA:391417
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Gait disturbance, Ataxia, Failure to thrive, Optic disc pallor OMIM:615838
Galactose Mutarotase Deficiency
Cataract, Failure to thrive ORPHA:570422
Neurofibromatosis Type 2
Neuroma, Remnants of the hyaloid vascular system, Bilateral vestibular Schwannoma, Retinal hamart... ORPHA:637
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor, Ataxia OMIM:615281
Dystonia, Juvenile-Onset
Cataract, Small for gestational age, Generalized dystonia OMIM:607371
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Abnormal nerve conduction velocity, Gait disturbance, Bradykinesia,... ORPHA:98755
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age OMIM:619057
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities