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Gene: Atoh7 MGI:1355553

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

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.

Human diseases associated with Atoh7 (1 diseases)
Human diseases predicted to be associated with Atoh7 (409 diseases)

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	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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