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Gene: Atoh7 MGI:1355553

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
atonal bHLH transcription factor 7
Synonyms:
bHLHa13,  Math5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Atoh7 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 Atoh7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Microphthalmia, Hyaloid vascular remnant and retrolental... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Retinal fold, Micr... OMIM:221900

The table below shows human diseases predicted to be associated to Atoh7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 2
Optic atrophy OMIM:311050
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... OMIM:120200
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem OMIM:615771
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia, Agenesis of corpu... OMIM:218670
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... OMIM:305390
Congenital Glaucoma
Retinal detachment ORPHA:98976
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Microp... OMIM:615181
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Microphthalmia OMIM:617914
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Retinal detachment, Retinal dystrophy, Iris coloboma, Microphthalmia, Chorioreti... OMIM:212550
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Optic disc hypoplasia OMIM:182230
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Macular atrophy OMIM:602499
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum OMIM:618890
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Craniotelencephalic Dysplasia
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Micro... ORPHA:1528
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atr... ORPHA:163937
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Cataract 21, Multiple Types
Iris coloboma, Retinal detachment, Macular hypoplasia OMIM:610202
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:228384
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Optic Atrophy 9
Optic atrophy OMIM:616289
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia, Microphthalmia ORPHA:324416
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum OMIM:617864
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the optic tract, Increased cup-to-disc ratio, Hypoplasia... ORPHA:500144
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal dystrophy, Progressive micro... OMIM:300953
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Coloboma, Microphthalmia, Optic nerve aplasia OMIM:206900
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:615033
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Microphthalmia OMIM:614833
Leukoencephalopathy With Ataxia
Optic neuropathy, Abnormal chorioretinal morphology OMIM:615651
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... OMIM:251270
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microcephaly, Retinal detachment, Hypoplasia of the pons, Cerebellar hypo... ORPHA:370959
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens coloboma OMIM:157151
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Coloboma Of Macula
Macular coloboma OMIM:120300
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Coloboma, Microphthalmia OMIM:610125
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Cerebral Visual Impairment
Increased cup-to-disc ratio, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Optic disc pall... ORPHA:447788
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia, Hypoplasia of the corpus callosum ORPHA:401777
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior ... ORPHA:83461
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Aganglionic megacolon, Microphthalmia ORPHA:85284
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Joubert Syndrome 22
Coloboma, Retinal dysplasia, Microphthalmia OMIM:615665
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Retinal dystrophy, Inferior cereb... OMIM:607932
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy ORPHA:496790
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Phace Association
Optic nerve hypoplasia, Cerebellar hypoplasia, Optic atrophy, Horner syndrome, Patent ductus arte... OMIM:606519
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Joubert Syndrome 16
Retinal dystrophy, Coloboma OMIM:614465
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Nephronophthisis 14
Retinal degeneration OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Cerebellar h... OMIM:614643
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Primary microcephaly OMIM:618828
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
D-Glyceric Aciduria
Optic nerve hypoplasia, Microcephaly, Cerebral cortical atrophy, Patent ductus arteriosus OMIM:220120
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Microcephaly, Hypoplasia of the pons OMIM:617523
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Squalene Synthase Deficiency
Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:618156
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Facial palsy OMIM:107550
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Cerebellar hypoplasia OMIM:615280
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Retinal coloboma, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypopl... OMIM:300749
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Microphthalmia OMIM:609053
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Agenesis of corpus callosum, Septo-optic dysplasia, Aplasia/Hypoplasia of... ORPHA:3157
White-Sutton Syndrome
Cerebral atrophy, Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potent... OMIM:616364
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the... OMIM:612513
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Leber Optic Atrophy
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy OMIM:535000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microcephaly, Retinal detachment, Cerebellar hypoplasia, Hypoplasia of th... OMIM:236670
Aniridia 1
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Hypoplasia of th... OMIM:106210
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Cerebellar agenesis, Microcephaly, Cerebellar hypoplasia OMIM:609069
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination OMIM:200100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... OMIM:301056
Renal Coloboma Syndrome
Retinal coloboma, Optic disc coloboma, Optic nerve dysplasia ORPHA:1475
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the olfactory bulb, Abnormal autonomic nervous system physiology, Optic nerve hypop... ORPHA:300570
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Corpus callosum atrophy, Hypoplasia of the frontal lobes ORPHA:357001
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Stromme Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal vascular tortuosity, Cerebel... OMIM:243605
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... ORPHA:98977
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Iris coloboma, Retinal atrophy OMIM:616722
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Macular hyp... ORPHA:2334
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atrophy, Facial palsy ORPHA:261349
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma ORPHA:324737
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, M... OMIM:256600
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment, Microphthalmia OMIM:613153
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc hypoplasia ORPHA:79345
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Hypoplasia of the corpus callosum ORPHA:261250
Aniridia 2
Optic atrophy OMIM:617141
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Abnormal flash visual evoked potentials, Decreased nerve... OMIM:245200
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic atrophy... OMIM:601152
Fg Syndrome Type 1
Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum ORPHA:93932
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma, Microphthalmia OMIM:120433
Hydranencephaly
Chorioretinal atrophy, Cerebral cortical atrophy, Primary microcephaly, Optic nerve hypoplasia ORPHA:2177
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar vermis hypoplasi... ORPHA:163961
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Microphthalmia OMIM:610023
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Cerebral atrophy, Abnormality of pattern visual evoked potentials ORPHA:1947
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Septo-optic dysplasia, Agenesis o... OMIM:301043
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Hypoplasia of... OMIM:616875
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy OMIM:618249
Micro Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Abnormality of ... ORPHA:2510
Pelizaeus-Merzbacher Disease
Optic atrophy, Microcephaly, Abnormality of visual evoked potentials, Cerebral cortical atrophy ORPHA:702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration, Microphthalmia OMIM:615249
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy, Caud... ORPHA:52368
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnorm... ORPHA:508498
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials, Progressive microcephaly, Hypoplasia of the... OMIM:260565
Phace Syndrome
Dandy-Walker malformation, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Microphth... ORPHA:42775
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Marcus-Gunn Syndrome
Morning glory anomaly, Abnormal fifth cranial nerve morphology, Coloboma ORPHA:91412
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials, Microcephaly, Hypoplasia of the corpu... ORPHA:314389
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... OMIM:605627
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Retinopathy, Optic neuropathy, Axonal degeneration OMIM:616811
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Cerebral atrophy, Retinal degeneration, Abn... ORPHA:168491
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... ORPHA:485421
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Optic atrophy... ORPHA:480898
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Agenesis of corpus callosum, Septo-optic dysplasia, Microphthalmia ORPHA:3301
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Hypoplasia of the corpus callosum, Undetectable visual evoked potentials, Opti... ORPHA:423479
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia ... ORPHA:457284
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Optic nerve hypoplasia, Microcephaly, Retinal dystrophy OMIM:619321
Microphthalmia, Syndromic 13
Coloboma, Microphthalmia OMIM:300915
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Coloboma, Microphthalmia OMIM:612379
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Achalasia-Addisonianism-Alacrima Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality of visual evok... OMIM:231550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Patent ductus arteriosus, Dandy-Walker malformation OMIM:617506
Joubert Syndrome 14
Morning glory anomaly, Coloboma, Microphthalmia OMIM:614424
Marshall-Smith Syndrome
Cerebral atrophy, Optic nerve hypoplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosu... OMIM:602535
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Central retinal artery occlusion, Vitritis OMIM:107320
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis ORPHA:59315
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Developmental And Epileptic Encephalopathy 3
Progressive microcephaly, Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Warburg Micro Syndrome 2
Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Undetectable visual evoked potent... OMIM:614225
Norrie Disease
Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold OMIM:310600
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy OMIM:604121
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... OMIM:229300
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Cerebellar gliosis, Abnormality of visual evoked po... ORPHA:35069
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnormality of the optic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnormality of the optic... ORPHA:352665
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Patent ductus arteriosus, Microphthalm... ORPHA:141099
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Agenesis of pineal gland, Optic disc coloboma ORPHA:536471
Holoprosencephaly 9
Optic nerve hypoplasia, Microcephaly, Anophthalmia, Partial agenesis of the corpus callosum, Micr... OMIM:610829
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar v... ORPHA:495875
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Retinal thinning, Cone/cone-rod dystrophy, C... ORPHA:85167
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Joubert Syndrome 23
Coloboma OMIM:616490
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:226307
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Coloboma OMIM:619318
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... ORPHA:206436
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Optic atrophy, Patent ductus arteriosu... ORPHA:500150
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Abnormality of pattern visual evoked potenti... ORPHA:2822
Fryns Syndrome
Aganglionic megacolon, Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tr... OMIM:229850
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:95494
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Microcephaly, Abnormality of visual evoked potentials, Aplasia/Hypoplasia involving the central n... OMIM:614457
Hyperoxaluria, Primary, Type I
Optic neuropathy, Retinopathy, Optic atrophy, Choroidal neovascularization, Retinal crystals OMIM:259900
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Microphthalmia OMIM:617306
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Microphthalmia, Hyaloid vascular remnant and retrolental... ORPHA:91495
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Hypo... ORPHA:79330
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Coloboma, Optic atrophy, Retinal atrophy, Microph... OMIM:253280
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Anophthalmia, Microphthalmia OMIM:147250
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Aganglionic ... ORPHA:959
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206443
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Patent ductus arteri... ORPHA:508488
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Retinal fold, Micr... OMIM:221900
Cln5 Disease
Abnormality of visual evoked potentials, Cerebral cortical atrophy, Corpus callosum atrophy ORPHA:228360
Cockayne Syndrome A
Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Abnor... OMIM:216400
Anterior Segment Dysgenesis 2
Congenital aphakia, Coloboma, Microphthalmia, Anterior segment of eye aplasia, Aniridia OMIM:610256
Cerebrotendinous Xanthomatosis
Optic neuropathy, Decreased nerve conduction velocity, Abnormal retinal vascular morphology, Hype... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral cortical neurodegeneration, Abnormality of visual evoked potentials, Gliosis, Astrocytosis OMIM:203700
Ruvalcaba Syndrome
Microcephaly, Abnormality of visual evoked potentials ORPHA:3121
Chilton-Okur-Chung Neurodevelopmental Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Septo-optic dysplasia, Agen... OMIM:619841
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Cockayne Syndrome B
Decreased nerve conduction velocity, Cerebral atrophy, Abnormality of visual evoked potentials, M... OMIM:133540
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Astrocytosis, Facial palsy ORPHA:258
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512

Histopathology

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

There is no histopathology data for Atoh7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atoh7.

No publications found that use IMPC mice or data for Atoh7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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