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:
N/A

IMPC Data Collections

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

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.

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, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Microphthalmia, Re... 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Retinal dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Optic Atrophy 2
Optic atrophy OMIM:311050
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
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
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
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Morning glory anomaly, Microphth... 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
Macular degeneration, Choroidal neovascularization OMIM:616118
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
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
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Microphthalmia, Isolated 8
Coloboma, Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia, Microcephaly OMIM:615771
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpu... OMIM:218670
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
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
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
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
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:250972
Nanophthalmos 4
Optic disc drusen OMIM:615972
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Optic Atrophy 6
Optic atrophy OMIM:258500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
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
Microcephaly 20, Primary, Autosomal Recessive
Microcephaly, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Hypoplasia of ... OMIM:615181
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Microphthalmia, Retina... OMIM:212550
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, Microcephaly, Opti... ORPHA:1528
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:182230
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Cerebral cortical atrophy, Optic nerve hypoplasia,... ORPHA:163937
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal... ORPHA:228384
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia OMIM:618890
Microspherophakia With Hernia
Superior lens subluxation, Microspherophakia, Retinal detachment OMIM:157150
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Optic Atrophy 9
Optic atrophy OMIM:616289
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Isolated Oxycephaly
Papilledema ORPHA:63440
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Hyp... OMIM:618736
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Microphthalmia, Coloboma ORPHA:324416
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Cerebellar hypoplasia, Retinal dystrophy, Optic nerve hypoplasia, Microceph... OMIM:300953
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:617864
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Cerebral cortical atrophy... ORPHA:500144
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment ORPHA:99000
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
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 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Optic neuropathy OMIM:615651
Spastic Paraplegia 54, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:615033
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Olivopontocerebellar hypoplasia, Cerebellar hypoplasia, Optic nerve ... ORPHA:370959
Microspherophakia-Metaphyseal Dysplasia
Lens subluxation, Microspherophakia, Retinal detachment, Lens coloboma OMIM:157151
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Coloboma OMIM:274270
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Cerebral Visual Impairment
Retinopathy of prematurity, Increased cup-to-disc ratio, Optic nerve hypoplasia, Microcephaly, Op... ORPHA:447788
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Coloboma Of Macula
Macular coloboma OMIM:120300
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Cerebellar hypoplasia OMIM:615280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Bresek Syndrome
Aganglionic megacolon, Microcephaly, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Optic atrophy, Optic nerve hypoplasia ORPHA:401777
Congenital Primary Aphakia
Retinal dysplasia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Ectopia Lentis Et Pupillae
Ectopia lentis, Retinal detachment OMIM:225200
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Retinal detachment, Optic atrophy ORPHA:1473
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia, Coloboma OMIM:615665
Phace Association
Patent ductus arteriosus, Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Increase... OMIM:606519
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Microphthalmia, Rod-cone dystrophy OMIM:612109
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microphthalmia, Syndromic 6
Aplasia of the optic tract, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ret... OMIM:607932
Nephronophthisis 14
Retinal degeneration OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Remnants of the hyaloid vascular system, Hypoplasia of the corpus ca... OMIM:614643
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Nabais Sa-De Vries Syndrome, Type 1
Primary microcephaly, Optic nerve hypoplasia OMIM:618828
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Squalene Synthase Deficiency
Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:618156
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Microcephaly, Abnormality of visual evoked potentials, Optic disc pallor, Hypoplasia of the pons OMIM:617523
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Optic disc... OMIM:300749
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Facial palsy, Macular coloboma OMIM:107550
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Optic nerve hypoplasia, Microphthalm... OMIM:206900
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Fanconi Anemia, Complementation Group I
Microcephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum OMIM:609053
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Optic nerve hypoplasia, Microcephaly, Hypopl... OMIM:612513
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia, Agenesis of ... ORPHA:3157
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic neuropathy OMIM:535000
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Pancreatic And Cerebellar Agenesis
Microcephaly, Optic nerve hypoplasia, Cerebellar agenesis, Cerebellar hypoplasia OMIM:609069
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Abnormality of retinal pigmentation, Microphakia, Retinal detachment ORPHA:171844
Aniridia 1
Aniridia, Macular agenesis, Hypoplasia of the corpus callosum, Chorioretinal hypopigmentation, Hy... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Retinal atrophy, Hypoplasia of the corpus callosum, Cerebellar hypop... OMIM:236670
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination OMIM:200100
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Optic nerve hypop... OMIM:301056
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cer... ORPHA:300570
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Corpus callosum atrophy, Hypoplasia of the frontal lobes ORPHA:357001
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Morphological abnormality of the pyramidal tract, Decreased nerve conduction ve... OMIM:256600
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Microphthalmia, Retinal detachment OMIM:613153
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypopl... ORPHA:2334
Stromme Syndrome
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Micr... OMIM:243605
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor OMIM:615233
2P15P16.1 Microdeletion Syndrome
Cerebellar hypoplasia, Facial palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy ORPHA:261349
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Abnormality of visual evo... OMIM:601455
Oculocutaneous Albinism Type 1
Abnormal morphology of the choroidal vasculature, Depigmented fundus, Optic nerve misrouting, Hyp... ORPHA:352731
Srd5A3-Cdg
Optic disc hypoplasia, Optic atrophy, Rod-cone dystrophy, Coloboma ORPHA:324737
Renal Coloboma Syndrome
Retinal coloboma, Optic nerve dysplasia, Optic disc coloboma ORPHA:1475
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Optic nerve hypoplasia ORPHA:261250
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Olivopontocerebellar hyp... ORPHA:468631
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve... OMIM:245200
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Iris coloboma, Coloboma ORPHA:921
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosus ORPHA:79345
Coach Syndrome 2
Chorioretinal coloboma, Coloboma OMIM:619111
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic atrophy, Abnor... OMIM:601152
Fg Syndrome Type 1
Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum ORPHA:93932
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Agenesis o... OMIM:301043
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Hydranencephaly
Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia, Primary microcephaly ORPHA:2177
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy OMIM:618249
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Cerebellar vermis hypoplasia, Undetectable visual evoked potentials, Agen... ORPHA:163961
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma OMIM:120433
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Optic atrophy, Microcephaly, Abnormality of visual evoked potentials ORPHA:702
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microceph... OMIM:616875
Micro Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the corpus callosum, Retinal coloboma,... ORPHA:2510
Phace Syndrome
Cerebellar hypoplasia, Lens coloboma, Optic nerve hypoplasia, Microphthalmia, Retinal vascular ma... ORPHA:42775
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Microphthalmia, Coloboma OMIM:610023
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Hypoplasia of the corpus callosum, Facial palsy, Optic nerve hypoplasia, Microp... ORPHA:508498
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Absent brainstem auditory responses, Optic atrophy, Caudate atrophy, Abnorm... ORPHA:52368
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Xq12-Q13.3 Duplication Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Abnormality of visual evoked potentials, Optic d... ORPHA:314389
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Retinopathy, Axonal degeneration, Optic neuropathy OMIM:616811
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia, Agenesis of corpus callosum ORPHA:3301
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia, Agene... ORPHA:457284
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Patent ductus arteriosus, Dandy-Walker malformation OMIM:617506
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Secondary microcephaly, Optic atrophy, Abnormality of visual... ORPHA:485421
Peho Syndrome
Hypoplasia of the corpus callosum, Undetectable visual evoked potentials, Optic atrophy, Progress... OMIM:260565
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Cerebral atrophy, Optic atrophy, Progressive microcephaly, Abnormality o... ORPHA:480898
Late Infantile Neuronal Ceroid Lipofuscinosis
Corpus callosum atrophy, Cerebral atrophy, Retinal degeneration, Abnormal amplitude of flash visu... ORPHA:168491
White-Sutton Syndrome
Rod-cone dystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Optic atro... OMIM:616364
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, Hypoplasia of the corpus callosum, Retinal dystrophy, Macu... ORPHA:423479
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Microcephaly, Optic atroph... OMIM:231550
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis OMIM:107320
Rhombencephalosynapsis
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon ORPHA:59315
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Abnormality of visual evoked potentials,... ORPHA:79431
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy OMIM:619321
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of the optic nerve, Optic nerve hypoplasia, Microc... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Abnormality of the optic nerve, Optic nerve hypoplasia, Microc... ORPHA:352665
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Progressive microcephaly, Abnormality of visual evoked potentials OMIM:609304
Warburg Micro Syndrome 2
Global brain atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microcephaly, Un... OMIM:614225
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcephaly, Partial agenesis of the corpu... OMIM:610829
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Decreased sensory nerve conducti... OMIM:229300
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Abnormal autonomic nervous system physiology, Peripheral axonal neuropat... ORPHA:35069
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Dandy-... ORPHA:495875
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Combined Oxidative Phosphorylation Defect Type 29
Retinopathy, Abnormal autonomic nervous system physiology, Optic neuropathy, Axonal degeneration ORPHA:478029
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Microcephaly, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Cerebral atrophy, Optic disc pallor ORPHA:1947
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:226307
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Agenesis of pineal gland, Optic nerve hypoplasia ORPHA:536471
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
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:95494
Hyperoxaluria, Primary, Type I
Retinal crystals, Choroidal neovascularization, Optic neuropathy, Optic atrophy, Retinopathy OMIM:259900
Autosomal Recessive Spastic Paraplegia Type 11
Frontal cortical atrophy, Orthostatic hypotension, Hypoplasia of the corpus callosum, Retinal deg... ORPHA:2822
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Global brain atrophy, Hypoplasia of the corpus call... ORPHA:500150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Fryns Syndrome
Hypoplasia of the optic tract, Arrhinencephaly, Aganglionic megacolon, Hypoplasia of olfactory tr... OMIM:229850
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Aplasia/Hypoplasia involving the central nervous system, Microcephaly, Abnormality of visual evok... OMIM:614457
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
8Q24.3 Microdeletion Syndrome
Global brain atrophy, Retinal coloboma, Hypoplasia of the corpus callosum, Patent ductus arterios... ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Coloboma, Retinal degeneration, Retinal dysplasia, Microphthalmia, Hypoplasia of... OMIM:253280
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormality of visual evoked potentials, Decrease... ORPHA:206443
Cockayne Syndrome A
Pigmentary retinopathy, Retinal pigment epithelial mottling, Cerebral atrophy, Abnormal auditory ... OMIM:216400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Microphthalmia, Re... OMIM:221900
Cln5 Disease
Cerebral cortical atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials ORPHA:228360
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Coloboma, Optic disc coloboma, Optic disc hypoplasia, Aganglionic megacol... ORPHA:959
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Microphthalmia OMIM:610256
Cerebrotendinous Xanthomatosis
Global brain atrophy, Hypermyelinated retinal nerve fibers, Abnormal auditory evoked potentials, ... ORPHA:909
Cockayne Syndrome B
Pigmentary retinopathy, Cerebral atrophy, Abnormal auditory evoked potentials, Decreased nerve co... OMIM:133540
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Ruvalcaba Syndrome
Microcephaly, Abnormality of visual evoked potentials ORPHA:3121
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Abnormality of visual evoked potentials, Cerebral cortical neurodegeneration, Gliosis OMIM:203700
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
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Facial palsy, Abnormality of visual evoked potentials ORPHA:258
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.

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