Gene: Nbas MGI:1918419

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Gene Summary

Name:
neuroblastoma amplified sequence
Synonyms:
4933425L03Rik

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 optic disk morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 6.68×10-15
preweaning lethality, complete penetrance Nbastm1b(EUCOMM)Hmgu HOM   Early adult 0.000179
abnormal retinal vasculature morphology Nbastm1b(EUCOMM)Hmgu HET Early adult 5.66×10-05
abnormal retina morphology Nbastm1b(EUCOMM)Hmgu HET   Early adult 4.93×10-08
persistence of hyaloid vascular system Nbastm1b(EUCOMM)Hmgu HET   Early adult 7.74×10-05
abnormal retinal blood vessel morphology Nbastm1b(EUCOMM)Hmgu HET   Early adult 9.15×10-06
decreased total body fat amount Nbastm1b(EUCOMM)Hmgu HET   Early adult 1.12×10-05

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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Nbas 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 Nbas by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy OMIM:614800
Infantile Liver Failure Syndrome 2
OMIM:616483

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Optic Atrophy 5
Optic atrophy OMIM:610708
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture ORPHA:320396
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Nanophthalmos 4
Optic disc drusen OMIM:615972
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Optic Atrophy 6
Optic atrophy OMIM:258500
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Merrf
Optic atrophy, Multiple lipomas ORPHA:551
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Jalili Syndrome
Cone/cone-rod dystrophy, Amelogenesis imperfecta, Optic disc pallor OMIM:217080
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Flexion contracture OMIM:616881
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Optic Atrophy 9
Optic atrophy OMIM:616289
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Flexion contracture OMIM:613162
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Isolated Oxycephaly
Papilledema ORPHA:63440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy, Flexion contracture OMIM:613154
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Periventricular Nodular Heterotopia 7
Optic atrophy, Flexion contracture OMIM:617201
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Microspherophakia With Hernia
Inguinal hernia, Superior lens subluxation, Retinal detachment OMIM:157150
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Camos Syndrome
Optic atrophy ORPHA:83472
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy, Flexion contracture OMIM:614255
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Optic atrophy, Flexion contracture of toe OMIM:619323
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Elbow flexion contracture, Knee flexion contracture OMIM:619303
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Flexion contracture, Retinal degeneration OMIM:256730
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Flexion contracture OMIM:300884
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Behr Syndrome
Adductor longus contractures, Hamstring contractures, Optic atrophy, Achilles tendon contracture OMIM:210000
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Optic atrophy, Retinal degeneration OMIM:214980
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of retinal pigmentation, ... ORPHA:1873
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Iris coloboma, Retinal detachment ORPHA:1473
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Cherubism
Optic atrophy ORPHA:184
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Flexion contracture OMIM:618324
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular dystrophy ORPHA:33445
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor OMIM:616732
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, ... ORPHA:137902
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Coloboma Of Macula
Macular coloboma OMIM:120300
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Sensory axonal neuropathy, Motor axonal neuropathy, Optic atrophy, Optic dis... OMIM:609541
Ectopia Lentis Et Pupillae
Ectopia lentis, Retinal detachment OMIM:225200
Spastic Paraplegia 2, X-Linked
Optic atrophy, Flexion contracture OMIM:312920
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Null Syndrome
Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Optic atrophy, P... ORPHA:280234
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Motor axonal neuropathy, Joint contractures involving the joints of the feet, Sensory axonal neur... ORPHA:457205
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Lens subluxation ORPHA:3456
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy OMIM:615673
Nephronophthisis 14
Retinal degeneration OMIM:614844
Optic Atrophy 1
Optic atrophy OMIM:165500
Optic Atrophy 8
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials OMIM:616648
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Joint contracture of the hand, Peripheral demyelination OMIM:258650
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Cofs Syndrome
Arthrogryposis multiplex congenita, Camptodactyly of finger, Abnormality of retinal pigmentation,... ORPHA:1466
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Lamb-Shaffer Syndrome
Optic atrophy OMIM:616803
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy OMIM:300983
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Optic neuropathy OMIM:615651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Flexion contracture ORPHA:141
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy ORPHA:352596
Retinitis Pigmentosa
Atypical scarring of skin, Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal v... ORPHA:791
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic neuropathy OMIM:535000
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... ORPHA:644
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Arthrogryposis multiplex congenita, Optic atrophy OMIM:618766
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy OMIM:617669
Pontocerebellar Hypoplasia Type 10
Optic atrophy ORPHA:411493
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Salt And Pepper Developmental Regression Syndrome
Optic atrophy OMIM:609056
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Van Buchem Disease
Optic atrophy from cranial nerve compression OMIM:239100
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy OMIM:614947
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Pigmentary retinopath... OMIM:609033
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor OMIM:615233
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Achilles tendon contracture OMIM:612674
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinopathy ORPHA:216873
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Optic atrophy, Congenital finger flexion contractures ORPHA:1154
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Optic disc pallor ORPHA:3173
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination OMIM:200100
Developmental And Epileptic Encephalopathy 49
Optic atrophy OMIM:617281
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy OMIM:614877
Peho-Like Syndrome
Optic atrophy OMIM:617507
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy OMIM:270500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Multiple joint contractures, Peripheral a... ORPHA:320406
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Flexion contracture, Peripheral demyelination OMIM:618237
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Camptodactyly of finger, Optic atrophy, Flexion contracture ORPHA:272
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Optic atrophy, Abnormal autonomic nervous system physiology, Flexion contracture OMIM:614498
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Optic atrophy OMIM:618238
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy OMIM:617698
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy OMIM:601338
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy OMIM:619057
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Peripheral axonal neuropathy OMIM:615809
Leukodystrophy, Hypomyelinating, 22
Flexion contracture, Optic disc pallor OMIM:619328
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic disc pallor OMIM:617954
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy ORPHA:26792
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Optic atrophy ORPHA:1495
Sarcosinemia
Optic atrophy ORPHA:3129
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:66631
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Flexion contracture OMIM:618346
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy OMIM:614702
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy ORPHA:168549
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Flexion contracture, Pigmentary retinopathy OMIM:252011
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Facial palsy, Ab... ORPHA:97229
Lissencephaly 8
Optic atrophy OMIM:617255
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Severe Canavan Disease
Optic atrophy ORPHA:314911
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Schindler Disease, Type I
Optic atrophy OMIM:609241
Xfe Progeroid Syndrome
Enamel hypoplasia, Optic atrophy, Absence of subcutaneous fat OMIM:610965
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Inguinal hernia, Retinal detachment, Femoral hernia OMIM:223330
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Spinocerebellar Ataxia, Autosomal Recessive 18
Flexion contracture, Optic disc pallor OMIM:616204
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Optic neuritis, Sensory axonal neuropathy, Facial palsy, Optic atrophy ORPHA:254886
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy OMIM:270800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Optic Pathway Glioma
Optic atrophy, Papilledema, Neurofibromas ORPHA:2086
Optic Atrophy 11
Optic atrophy, Facial diplegia OMIM:617302
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy ORPHA:49827
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Facial palsy, Optic disc pallor OMIM:611490
Filippi Syndrome
Optic atrophy OMIM:272440
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Retinal degeneration OMIM:618329
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy OMIM:616680
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Srd5A3-Cdg
Optic disc hypoplasia, Optic atrophy, Rod-cone dystrophy, Coloboma ORPHA:324737
Lissencephaly 5
Optic atrophy OMIM:615191
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Facial palsy OMIM:614707
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy OMIM:617810
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy OMIM:618688
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
3-Methylglutaconic Aciduria Type 9
Optic atrophy ORPHA:505216
Hemimegalencephaly
Optic atrophy ORPHA:99802
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy ORPHA:466794
Leukodystrophy, Hypomyelinating, 6
Optic atrophy OMIM:612438
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor OMIM:617276
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy ORPHA:330050
Hsd10 Disease
Optic atrophy ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy OMIM:618253
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:152950
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Multiple joint contractures ORPHA:504476
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture OMIM:615042
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Optic atrophy OMIM:618737
Woods Syndrome
Optic atrophy OMIM:615236
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Progressive flexion contractures, Optic atrophy OMIM:617481
Triple A Syndrome
Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Arts Syndrome
Optic atrophy OMIM:301835
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy OMIM:608804
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy OMIM:245349
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy OMIM:614299
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor OMIM:300887
Krabbe Disease
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:245200
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy OMIM:618249
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Optic atrophy OMIM:615330
Leukodystrophy, Progressive, Early Childhood-Onset
Flexion contracture, Optic disc pallor OMIM:617762
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy ORPHA:401768
Renal Coloboma Syndrome
Retinal coloboma, Optic nerve dysplasia, Optic disc coloboma ORPHA:1475
Spastic Paraplegia Type 2
Optic atrophy ORPHA:99015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensory axonal neuropathy, Optic atrophy, Flexion contracture ORPHA:99947
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy OMIM:618226
Congenital Disorder Of Glycosylation, Type Ie
Abnormal macular morphology, Camptodactyly, Knee flexion contracture, Optic atrophy, Retinopathy,... OMIM:608799
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Abnormal auditory ev... OMIM:619260
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Retinopathy, Axonal degeneration, Optic neuropathy OMIM:616811
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy OMIM:144755
Pontocerebellar Hypoplasia, Type 3
Optic atrophy OMIM:608027
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Flexion contracture OMIM:617664
Stt3B-Cdg
Optic atrophy ORPHA:370924
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial diplegia OMIM:613559
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor OMIM:619170
Spastic Paraplegia Type 7
Optic atrophy, Optic disc pallor ORPHA:99013
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Optic disc pallor OMIM:619076
X-Linked Dominant Chondrodysplasia Punctata
Optic atrophy, Scarring alopecia of scalp ORPHA:35173
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy OMIM:614559
Infantile Refsum Disease
Optic atrophy, Rod-cone dystrophy, Facial palsy ORPHA:772
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Umbilical hernia OMIM:618164
Distal Monosomy 7Q36
Optic atrophy, Hernia ORPHA:1636
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Spastic Paraplegia 35, Autosomal Recessive
Optic atrophy OMIM:612319
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Harel-Yoon Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:617183
Developmental And Epileptic Encephalopathy 47
Optic disc pallor OMIM:617166
Warburg Micro Syndrome 1
Optic atrophy OMIM:600118
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy OMIM:614388
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy OMIM:618233
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Flexion contracture, Iris coloboma, Joint contracture of the ... OMIM:601110
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy OMIM:608688
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Idiopathic Intracranial Hypertension
Papilledema ORPHA:238624
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Flexion contracture OMIM:609180
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Optic atrophy ORPHA:1252
Leukoencephalopathy With Vanishing White Matter
Optic atrophy OMIM:603896
Canavan Disease
Optic atrophy OMIM:271900
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy ORPHA:401866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detac... OMIM:614643
Progressive Myoclonic Epilepsy Type 3
Optic atrophy ORPHA:263516
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Flexion contracture OMIM:615491
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor OMIM:617523
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Multiple joint contractures, Optic disc pallor ORPHA:363429
Cerebral Visual Impairment
Retinopathy of prematurity, Increased cup-to-disc ratio, Optic nerve hypoplasia, Optic atrophy, O... ORPHA:447788
Adams-Oliver Syndrome 2
Optic atrophy OMIM:614219
L-2-Hydroxyglutaric Aciduria
Optic atrophy OMIM:236792
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy OMIM:251900
Distal Monosomy 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Leukodystrophy, Hypomyelinating, 21
Optic atrophy OMIM:619310
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Optic atrophy, Iris coloboma OMIM:615219
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Iris coloboma, Retinal fold, Retinal nonattachment OMIM:221900
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy ORPHA:369939
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Multiple joint contractures ORPHA:466934
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy OMIM:615597
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor OMIM:618437
3-Methylglutaconic Aciduria, Type V
Optic atrophy OMIM:610198
Distal Monosomy 17Q
Optic atrophy ORPHA:1597
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy ORPHA:79279
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor OMIM:615838
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy OMIM:614800
Dysosteosclerosis
Abnormal cranial nerve morphology, Abnormal dental enamel morphology, Optic atrophy ORPHA:1782
Jaberi-Elahi Syndrome
Optic atrophy OMIM:617988
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Onion bulb forma... ORPHA:320375
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy ORPHA:289916
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Fundus atrophy ORPHA:1970
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology, Flexion contracture OMIM:616683
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Retinal dystrophy, Abnormality of the optic nerve, Retina... ORPHA:899
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy ORPHA:529665
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Optic disc pallor, Retinal dystrophy ORPHA:423479
Pontocerebellar Hypoplasia, Type 7
Optic atrophy OMIM:614969
Hsd10 Disease, Infantile Type
Optic atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Coloboma, Retinal detachment ORPHA:370959
Crouzon Disease
Optic atrophy, Iris coloboma ORPHA:207
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy ORPHA:93262
Multiple Carboxylase Deficiency
Optic atrophy ORPHA:148
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Unilateral facial palsy, Optic atrophy, Rod-cone dystrophy