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Gene: Pou4f2 MGI:102524

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
POU domain, class 4, transcription factor 2
Synonyms:
Brn-3.2,  Brn3b,  Brn-3b,  Pou4f-rs1,  mBrn3-3R

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 Pou4f2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pou4f2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Foveal Hypoplasia 1
Congenital nystagmus, Hypoplasia of the fovea OMIM:136520
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Impaired smooth pursuit, Truncal titubation, Gaze-evoked horizontal... OMIM:618800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Leukodystrophy, Hypomyelinating, 16
Nystagmus, Horizontal nystagmus, Rotary nystagmus, Gaze-evoked nystagmus, Optic disc pallor, Pend... OMIM:617964
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Nystagmus, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Saccadic smooth pursuit, Intention tremor OMIM:620221
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Nystagmus, Optic atrophy, Microcephaly OMIM:620086
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
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, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Cerebral Visual Impairment
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Optic nerve hypoplasia, Microcephaly, Opti... ORPHA:447788
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus ... OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, ... OMIM:615181
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Joubert Syndrome 40
Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Neuroectodermal Melanolysosomal Disease
Nystagmus, Tremor, Optic atrophy, Strabismus, Subcortical cerebral atrophy, Abnormal optic nerve ... ORPHA:33445
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Achromatopsia 7
Hypoplasia of the fovea, Nystagmus, Absent foveal reflex, Macular atrophy OMIM:616517
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Oculocutaneous Albinism Type 6
Nystagmus, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morpholo... ORPHA:370097
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Lissencephaly Due To Tuba1A Mutation
Nystagmus, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, M... ORPHA:171680
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Optic Nerve Hypoplasia, Bilateral
Nystagmus, Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... OMIM:165550
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Cognitive Impairment With Or Without Cerebellar Ataxia
Strabismus, Optic nerve hypoplasia, Gaze-evoked nystagmus, Esophoria OMIM:614306
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Spinocerebellar Ataxia, Autosomal Recessive 8
Nystagmus, Peripheral axonal neuropathy, Optic atrophy, Strabismus, Abnormal autonomic nervous sy... OMIM:610743
Foveal Hypoplasia 2
Hypoplasia of the fovea, Nystagmus, Alternating esotropia, Strabismus, Foveal hyperpigmentation, ... OMIM:609218
X-Linked Intellectual Disability, Najm Type
Nystagmus, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Cerebellar hypoplasia... ORPHA:163937
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Albinism, Oculocutaneous, Type Iv
Nystagmus, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Dystonia 34, Myoclonic
Rotary nystagmus, Torticollis, Impaired smooth pursuit, Writer's cramp, Hypermetric saccades, Han... OMIM:619724
Chromosome 19P13.13 Deletion Syndrome
Nystagmus, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus OMIM:613638
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Pontocerebellar Hypoplasia, Type 2A
Impaired smooth pursuit, Microcephaly, Hypoplasia of the pons, Optic atrophy, Opisthotonus, Cereb... OMIM:277470
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Spinocerebellar Ataxia 13
Nystagmus, Optic atrophy, Jerky ocular pursuit movements OMIM:605259
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Abnormal visual fixation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea, Nystagmus OMIM:615312
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Optic atrophy, Lissencephaly, Cerebellar hypoplasia, Microph... ORPHA:1528
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Strabismus, Hypoplasia of the corpus callo... ORPHA:228384
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Torticollis, Optic atrophy, Saccadic smooth pursuit OMIM:619686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Nystagmus, Retinal atrophy, Type II lissencephaly, Microcephaly, Optic atrophy, Aplasia/Hypoplasi... OMIM:253280
Autosomal Recessive Spastic Paraplegia Type 15
Nystagmus, Peripheral axonal neuropathy, Saccadic smooth pursuit, Hand tremor, Pigmentary retinop... ORPHA:100996
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Achromatopsia
Hypoplasia of the fovea, Eccentric visual fixation, Retinal pigment epithelial atrophy, Retinal p... ORPHA:49382
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Dysmetric saccades, Optic atrophy, Saccadic smooth pursuit, Intention tremor ORPHA:466794
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Macular degeneration, Abnormal au... ORPHA:247234
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gaze-evoked nystagmus, Postural tremor, Tremor, Optic atrophy, Vertical supranuclear gaze palsy, ... OMIM:607694
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Optic Atrophy 6
Optic atrophy OMIM:258500
Spinocerebellar Ataxia 8
Nystagmus, Impaired smooth pursuit, Tremor, Slow saccadic eye movements, Dysmetric saccades OMIM:608768
Leukodystrophy, Hypomyelinating, 9
Nystagmus, Absent smooth pursuit, Rotary nystagmus, Microcephaly, Cerebral atrophy, Hypoplasia of... OMIM:616140
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Peroxisome Biogenesis Disorder 6B
Nystagmus, Retinal dystrophy, Impaired smooth pursuit, Motor axonal neuropathy, Dysmetric saccade... OMIM:614871
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia 27A
Upbeat nystagmus, Absent smooth pursuit, Gaze-evoked nystagmus, Impaired smooth pursuit, Postural... OMIM:193003
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Congenital Glaucoma
Retinal detachment ORPHA:98976
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Spinocerebellar Ataxia 15
Postural tremor, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Dysmetric saccades, A... OMIM:606658
Leber Congenital Amaurosis 15
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Pigmentary retinopathy, Peripapillary atro... OMIM:613843
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Strabismus, Agenesis of corpus call... OMIM:618736
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po... ORPHA:370959
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Saccadic smooth pursuit, Strabismus, Cerebellar hypo... ORPHA:314978
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Horizontal nystagmus, Saccadic smooth pursuit, Downbeat nystagmus, Macular degeneration, Dysmetri... ORPHA:284289
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Septooptic Dysplasia
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Nystagmus, Optic atrophy, Jerky ocular pursuit movements ORPHA:1177
Spinocerebellar Ataxia Type 11
Horizontal nystagmus, Vertical nystagmus, Jerky ocular pursuit movements, Dystonia ORPHA:98767
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Strabismus, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Spinocerebellar Ataxia 2
Gaze-evoked nystagmus, Postural tremor, Ophthalmoplegia, Impaired horizontal smooth pursuit, Slow... OMIM:183090
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Optic Atrophy-Intellectual Disability Syndrome
Nystagmus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Strabismus, Hypoplasia o... ORPHA:401777
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Joubert Syndrome 2
Nystagmus, Abnormal saccadic eye movements, Rotary nystagmus, Retinal dystrophy, Impaired smooth ... OMIM:608091
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Lissencephaly, Microphthalmia, Polymicrogyria, Agenesis of ... OMIM:614833
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Strabismus, C... OMIM:617914
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Joubert Syndrome 1
Optic disc pallor, Abnormal saccadic eye movements, Cerebellar vermis hypoplasia, Retinal dystrop... OMIM:213300
Spinocerebellar Ataxia 5
Rotary nystagmus, Gaze-evoked nystagmus, Impaired smooth pursuit, Strabismus, Horizontal jerk nys... OMIM:600224
Tremor-Ataxia-Central Hypomyelination Syndrome
Nystagmus, Postural tremor, Optic atrophy, Vertical supranuclear gaze palsy, Abnormality of ocula... ORPHA:447896
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Nystagmus, Optic disc pallor, Gaze-evoked nystagmus, O... OMIM:164400
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Nystagmus OMIM:113750
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Strabismus, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic nerve hypoplasia ORPHA:572013
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Horizontal nystagmus, Tremor, Optic atrophy, Impaired horizontal smooth pursuit, Hypoplasia of th... OMIM:614381
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Nystagmus, Impaired smooth pursuit, Decreased number o... OMIM:270550
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Nystagmus, Decreased distal sensory nerve action potential, Gaze-evoked nystagmus, Vestibular are... OMIM:614575
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Nystagmus, Chorioretinal hypopigmentation OMIM:619165
Spinocerebellar Ataxia 34
Nystagmus, Peripheral axonal neuropathy, Impaired smooth pursuit, Supranuclear gaze palsy, Cerebr... OMIM:133190
Spinocerebellar Ataxia 46
Nystagmus, Slow saccadic eye movements, Sensory axonal neuropathy, Jerky ocular pursuit movements OMIM:617770
Spinocerebellar Ataxia 19
Nystagmus, Postural tremor, Gaze-evoked horizontal nystagmus, Saccadic smooth pursuit, Intermitte... OMIM:607346
Åland Islands Eye Disease
Hypoplasia of the fovea, Nystagmus, Hypopigmentation of the fundus ORPHA:178333
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Gaze-evoked nystagmus, Postural tremor, Hypermetric saccades, Saccadic smooth pursui... OMIM:619862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Dandy-Walker malformation, Subcortical heterotopia, Remnants of the hyaloid v... OMIM:614643
Aland Island Eye Disease
Hypoplasia of the fovea, Nystagmus OMIM:300600
Congenital Hydrocephalus
Abnormal cortical gyration, Optic atrophy, Strabismus, Macular hypoplasia, Lissencephaly ORPHA:2185
Spinocerebellar Ataxia, Autosomal Recessive 14
Intention tremor, Nystagmus, Jerky ocular pursuit movements, Hypometric saccades OMIM:615386
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Ataxia-Telangiectasia-Like Disorder 1
Gaze-evoked nystagmus, Impaired smooth pursuit, Choreoathetosis, Horizontal jerk nystagmus, Dysto... OMIM:604391
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Nystagmus, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Esotropia ORPHA:496790
Congenital Fibrosis Of Extraocular Muscles
Nonprogressive restrictive external ophthalmoplegia, Compensatory chin elevation, Torticollis, Op... ORPHA:45358
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Pyruvate Dehydrogenase E1-Beta Deficiency
Impaired smooth pursuit, Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:255138
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Gaze-evoked nystagmus, Slow saccadic eye movements, Abnormality of ... ORPHA:251347
Aniridia 1
Hypoplasia of the fovea, Nystagmus, Optic nerve hypoplasia, Strabismus, Hypoplasia of the iris, C... OMIM:106210
Spinocerebellar Ataxia 26
Nystagmus, Impaired horizontal smooth pursuit, Dysmetric saccades OMIM:609306
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Horizontal nystagmus, Nystagmus, Retinal atrophy, Gaze-evoked nystagmus, Postural tremor, Hypopla... ORPHA:412057
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... OMIM:620157
Optic Atrophy 11
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Facial diplegia, Athetosis, Cere... OMIM:617302
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Isolated Aniridia
Aniridia, Nystagmus, Aplasia/Hypoplasia of the macula ORPHA:250923
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Nystagmus, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Strabismus, Hypopl... OMIM:617864
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Nystagmus, Saccadic smooth pursuit ORPHA:404499
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Nystagmus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Intention tremor OMIM:618381
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Nystagmus, Diffuse cerebral atrophy, Absent smooth pursuit, Microcephaly, Hypoplasia of the corpu... ORPHA:438114
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal saccadic eye movements, Cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... ORPHA:300570
Spinocerebellar Ataxia, Autosomal Recessive 2
Nystagmus, Gaze-evoked nystagmus, Tremor, Saccadic smooth pursuit, Cerebellar hypoplasia OMIM:213200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Absent smooth pursuit, Optic atrophy, Strabismus, Cerebellar hypoplasia, Progressive microcephaly ORPHA:329178
Wars2-Related Combined Oxidative Phosphorylation Defect
Nystagmus, Cerebellar vermis hypoplasia, Impaired smooth pursuit, Tremor, Cerebral atrophy, Athet... ORPHA:572798
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Nystagmus, Horizontal nystagmus, Strabismus, Jerky ocular pursuit movements, Dysmetric saccades, ... ORPHA:352403
Autosomal Recessive Ataxia, Beauce Type
Abnormal saccadic eye movements, Impaired smooth pursuit, Ophthalmoparesis, Strabismus, Arm dysto... ORPHA:88644
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Cerebellar hyp... OMIM:300953
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Nystagmus, Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Simpl... OMIM:300749
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Spinocerebellar Ataxia Type 13
Nystagmus, Optic disc pallor, Torticollis, Optic atrophy, Upgaze palsy, Titubation, Jerky ocular ... ORPHA:98768
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Spinocerebellar Ataxia, Autosomal Recessive 15
Nystagmus, Saccadic smooth pursuit OMIM:615705
Spinocerebellar Ataxia 6
Nystagmus, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Abnormal vestibulo-ocular r... OMIM:183086
Spastic Paraplegia 54, Autosomal Recessive
Strabismus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:615033
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Spinocerebellar Ataxia Type 14
Tremor, Gaze-evoked nystagmus, Saccadic smooth pursuit ORPHA:98763
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Nabais Sa-De Vries Syndrome, Type 1
Simplified gyral pattern, Optic nerve hypoplasia, Primary microcephaly OMIM:618828
Developmental And Epileptic Encephalopathy 4
Tremor, Impaired horizontal smooth pursuit, Cerebral atrophy, Choreoathetosis, Hypoplasia of the ... OMIM:612164
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Nystagmus, Gaze-evoked horizontal nystagmus, Abnormality of ocular smooth pursuit ORPHA:284271
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Impaired smooth pursuit, Opisthotonus, Progressive microcephaly, An... ORPHA:95232
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Nystagmus, Peripheral axonal neuropathy, Tremor, Optic atrophy, Impaired pursuit initiation and m... ORPHA:137898
Neurodegeneration With Brain Iron Accumulation 2B
Nystagmus, Impaired smooth pursuit, Optic atrophy, Cerebral atrophy, Dystonia, Intention tremor OMIM:610217
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Dystonia, Bull's eye maculopathy, Impaired convergence, Optic atrophy, Cra... ORPHA:157850
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
X-Linked Progressive Cerebellar Ataxia
Nystagmus, Axonal loss, Saccadic smooth pursuit, Intention tremor ORPHA:1175
Albinism, Ocular, Type I
Hypoplasia of the fovea, Nystagmus, Nystagmus-induced head nodding, Ocular albinism, Depigmented ... OMIM:300500
Spinocerebellar Ataxia Type 26
Nystagmus, Impaired horizontal smooth pursuit, Dysmetric saccades ORPHA:101112
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cardiofaciocutaneous Syndrome 4
Strabismus, Nystagmus, Cerebellar hypoplasia, Optic nerve hypoplasia OMIM:615280
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Impaired smooth pursuit, Leg dystonia, Upgaze pa... ORPHA:157846
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Nystagmus, Impaired smooth pursuit, Microcephaly, Strabismus, Polymicrogyria ORPHA:488613
Leukoencephalopathy With Ataxia
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy OMIM:615651
Coloboma, Ocular, Autosomal Dominant
Nystagmus, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, O... OMIM:120200
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gaze-evoked nystagmus, Hypermetric saccades, Jerky ocular pursuit movements, Cerebra... OMIM:618369
Mannosidosis, Alpha B, Lysosomal
Nystagmus, Impaired smooth pursuit, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal d... OMIM:248500
Spinocerebellar Ataxia Type 10
Nystagmus, Kinetic tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Intention tremor ORPHA:98761
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Nystagmus, Diffuse cerebral atrophy, Absent smooth pursuit, Microcephaly, Optic atrophy, Strabism... OMIM:617193
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly ORPHA:85284
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... OMIM:606353
Spinocerebellar Ataxia 11
Nystagmus, Jerky ocular pursuit movements OMIM:604432
Machado-Joseph Disease
Gaze-evoked nystagmus, External ophthalmoplegia, Impaired horizontal smooth pursuit, Supranuclear... OMIM:109150
Septo-Optic Dysplasia Spectrum
Nystagmus, Septo-optic dysplasia, Optic nerve hypoplasia, Strabismus, Aplasia/Hypoplasia of the c... ORPHA:3157
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Spinocerebellar Ataxia, Autosomal Recessive 11
Gaze-evoked horizontal nystagmus, Impaired smooth pursuit OMIM:614229
Huntington Disease-Like 1
Nystagmus, Abnormal saccadic eye movements, Slow saccadic eye movements, Abnormality of ocular sm... ORPHA:157941
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Spastic Paraplegia 46, Autosomal Recessive
Nystagmus, Cerebral atrophy, Hand tremor, Head tremor, Jerky ocular pursuit movements, Hypoplasia... OMIM:614409
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Spinocerebellar Ataxia 36
Vertical supranuclear gaze palsy, Nystagmus, Slow saccadic eye movements, Impaired smooth pursuit OMIM:614153
Spinocerebellar Ataxia 4
Impaired smooth pursuit OMIM:600223
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Horizontal nystagmus, Postural tremor, Saccadic smooth pursuit, Oculomotor apraxia, Dysmetric sac... ORPHA:284324
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Nystagmus, Exotropia, Strabismus, Hypopigmentation of the fundus OMIM:203200
Spinocerebellar Ataxia Type 19/22
Nystagmus, Ophthalmoplegia, Impaired smooth pursuit ORPHA:98772
Autosomal Recessive Spastic Paraplegia Type 46
Nystagmus, Peripheral axonal neuropathy, Corpus callosum atrophy, Cerebral atrophy, Jerky ocular ... ORPHA:320391
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Stt3A-Cdg
Impaired smooth pursuit, Microcephaly ORPHA:370921
Asparagine Synthetase Deficiency
Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplas... OMIM:615574
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Squalene Synthase Deficiency
Polymicrogyria, Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:618156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Dandy-Walker malformation, Retinal atrophy, Agyria, Optic nerve hypoplasia, M... OMIM:236670
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Oculomotor apraxia, Impaired smooth pursuit, Motor axonal neuropathy ORPHA:247815
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Strabismus, Optic nerve hypoplasia ORPHA:363686
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder, Optic atrophy OMIM:618248
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Episodic Ataxia Type 4
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus ORPHA:79136
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... OMIM:620155
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Absent smooth pursuit, Dystonia, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus ... ORPHA:496641
Dentatorubral Pallidoluysian Atrophy
Nystagmus, Optic neuropathy, Saccadic smooth pursuit, Ophthalmoparesis, Choreoathetosis, Blepharo... ORPHA:101
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Nystagmus, Impaired smooth pursuit OMIM:603516
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Gaze-evoked nystagmus, Impaired pursuit initiation and maintenance, Dys... OMIM:607136
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Strabismus, Hypop... OMIM:612513
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Verheij Syndrome
Optic nerve hypoplasia, Cerebral atrophy, Microcephaly OMIM:615583
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Nystagmus, Optic nerve hypoplasia, Microcephaly, Strabismus, Cerebellar hypoplasia, Hypoplasia of... OMIM:301056
19P13.13 Microdeletion Syndrome
Nystagmus, Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Strabismus, Hypoplasia... ORPHA:357001
Spinocerebellar Ataxia, Autosomal Recessive 26
Oculomotor apraxia, Horizontal nystagmus, Hypermetric saccades, Saccadic smooth pursuit OMIM:617633
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Spinocerebellar Ataxia Type 8
Hypoplasia of the pons, Nystagmus, Impaired smooth pursuit, Dystonia ORPHA:98760
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar... OMIM:606519
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Nephronophthisis 14
Retinal degeneration OMIM:614844
16Q24.3 Microdeletion Syndrome
Nystagmus, Optic nerve hypoplasia, Periventricular heterotopia, Strabismus, Hypoplasia of the cor... ORPHA:261250
D-Glyceric Aciduria
Microcephaly, Cerebral cortical atrophy, Optic nerve hypoplasia, Opisthotonus OMIM:220120
Episodic Ataxia, Type 4
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Esophoria OMIM:606552
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Spinocerebellar Ataxia 21
Nystagmus, Microsaccadic pursuit, Postural tremor, Hypermetric saccades, Strabismus, Slow saccadi... OMIM:607454
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Achromatopsia 2
Hypoplasia of the fovea, Nystagmus, Retinal thinning, Absent foveal reflex, Peripapillary atrophy... OMIM:216900
Fanconi Anemia, Complementation Group I
Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly OMIM:609053
Episodic Ataxia, Type 2
Dystonia, Gaze-evoked nystagmus, Saccadic smooth pursuit, Downbeat nystagmus OMIM:108500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Spinocerebellar Ataxia 42
Tremor, Horizontal nystagmus, Saccadic smooth pursuit OMIM:616795
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
White-Sutton Syndrome
Nystagmus, Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Strabismus, Hypoplasia of the ... OMIM:616364
Spinocerebellar Ataxia, Autosomal Recessive 7
Nystagmus, Postural tremor, Truncal titubation, Hypermetric saccades, Saccadic smooth pursuit, Oc... OMIM:609270
Microcephaly, Amish Type
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O... OMIM:607196
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Ocular albinism, Optic n... ORPHA:79435
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia, Microcephaly OMIM:222765
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Rotary nystagmus, Alternating esotropia, Microcephaly, Optic atrophy, Simplified gyral pattern, S... OMIM:615219
7Q11.23 Microduplication Syndrome
Impaired smooth pursuit, Simplified gyral pattern, Strabismus, Abnormal optic disc morphology, Ce... ORPHA:96121
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gaze-evoked nystagmus, Postural tremor, Saccadic smooth pursuit, Strabismus, Choreoathetosis, Hea... ORPHA:64753
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Hypoplasia of the pons, O... ORPHA:468631
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Postural tremor, Impaired smooth pursuit ORPHA:75567
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Craniofacial dystonia, Jerky ocular pursuit movements, Esodeviation OMIM:619691
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Congenital nystagmus, Bilateral microphthalmos, Hypoplastic iris stroma,... ORPHA:2334
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea, Nystagmus, Microcephaly, Hypoplasia of the corpus callosum, Cerebral cor... OMIM:618744
Short Stature, Microcephaly, And Endocrine Dysfunction
Nystagmus, Impaired smooth pursuit, Microcephaly, Simplified gyral pattern, Sensory axonal neurop... OMIM:616541
Autosomal Recessive Spastic Paraplegia Type 11
Nystagmus, Orthostatic hypotension, Peripheral axonal neuropathy, Saccadic smooth pursuit, Strabi... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 42
Nystagmus, Dystonia, Impaired smooth pursuit, Strabismus, Abnormality of ocular smooth pursuit, L... OMIM:616973
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Nystagmus, Depigmented fundus, Strabismus, Abnormal morphology of the ch... ORPHA:352731
Spinocerebellar Ataxia Type 42
Nystagmus, Resting tremor, Upper limb postural tremor, Gaze-evoked horizontal nystagmus, Saccadic... ORPHA:458803
2P15P16.1 Microdeletion Syndrome
Facial palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Cerebellar hypoplasia ORPHA:261349
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Strabismus, Retinopat... ORPHA:2611
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retina... OMIM:243605
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Strabismus, Abnormal macular morphology ORPHA:54
Fragile X Tremor/Ataxia Syndrome
Nystagmus, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Action tremor, Saccadic smo... OMIM:300623
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Nystagmus, Chronic axonal neuropathy, Peripheral axona... OMIM:606002
Fg Syndrome Type 1
Strabismus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum ORPHA:93932
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Nystagmus, Rieger anomaly, Strabismus, Hypoplasia of the iris, Microphth... OMIM:604229
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Strabismus, Abnormal opt... ORPHA:79434
Abetalipoproteinemia
Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Gerstmann-Straussler Disease
Tremor, Impaired smooth pursuit OMIM:137440
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Spinocerebellar Ataxia Type 21
Tremor, Nystagmus, Intermittent microsaccadic pursuits ORPHA:98773
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Gray matter heterotopia, Hypopla... OMIM:603671
Hermansky-Pudlak Syndrome 6
Nystagmus, Ocular albinism, Absent foveal reflex, Strabismus, Macular hypoplasia OMIM:614075
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Strabismus, Retinal vascular malformation, C... ORPHA:42775
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Horizontal nystagmus, Nystagmus, Retinal detachment, Morning glory anoma... OMIM:612109
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... OMIM:206900
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Microcephaly, Strabismus, Abnormal optic disc morphology, R... ORPHA:508498
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cereb... OMIM:609069
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Intention tremor OMIM:620029
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, Cerebral corti... ORPHA:2177
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Aniridia 2
Optic atrophy OMIM:617141
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Horizontal nystagmus, Ocular albinism OMIM:614073
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Horizontal nystagmus, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypopla... ORPHA:495875
Familial Benign Copper Deficiency
Aplasia/Hypoplasia of the fovea ORPHA:1551
Meckel Syndrome 13
Molar tooth sign on MRI, Retinopathy OMIM:617562
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Nystagmus, Horizontal nystagmus, Ocular albinism, Strabismus OMIM:614074
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the corpus call... OMIM:605627
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Intention tremor ORPHA:221139
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Nystagmus, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:617506
Chromosome 3Pter-P25 Deletion Syndrome
Strabismus, Macular hypoplasia, Microcephaly OMIM:613792
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 33
Cone/cone-rod dystrophy, Molar tooth sign on MRI OMIM:617767
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Agenesis of corpus callosum, Optic atrophy ORPHA:3301
Joubert Syndrome 20
Molar tooth sign on MRI, Retinopathy OMIM:614970
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Hermansky-Pudlak Syndrome 11
Strabismus, Nystagmus, Hypoplasia of the fovea, Ocular albinism OMIM:619172
Holoprosencephaly 9
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis ... OMIM:610829
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont... ORPHA:457284
Marshall-Smith Syndrome
Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypoplasia, Hypoplasia of the co... OMIM:602535
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly OMIM:301043
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly OMIM:619321
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... ORPHA:352665
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Spondylodysplastic Ehlers-Danlos Syndrome
Strabismus, Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Nystagmus, Horizontal nystagmus, Optic disc pallor, Ocular albinism, Pen... OMIM:614077
Joubert Syndrome 16
Molar tooth sign on MRI, Retinal dystrophy OMIM:614465
Rhombencephalosynapsis
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon ORPHA:59315
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Abnormal optic nerve morphology ORPHA:79431
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Strabismus, Chorioretinal coloboma, Mi... ORPHA:141099
Wolfram Syndrome 2
Neurogenic bladder, Optic atrophy, Optic neuropathy OMIM:604928
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Strabismus, Exotropia OMIM:203100
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Nystagmus, Optic atrophy, Strabismus, Yellow/white lesions of the retina... ORPHA:93400
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Knobloch Syndrome 1
Nystagmus, Horizontal nystagmus, Retinal detachment, Gaze-evoked nystagmus, Optic disc pallor, Mi... OMIM:267750
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Nystagmus, Optic nerve hypoplasia, Optic atrophy, Simplified gyral pattern, Strabismus, Cerebella... ORPHA:500150
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Strabismus, Retinal coloboma, Secondary microce... ORPHA:508488
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Chorioretinal coloboma, Mola... OMIM:610688
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Macular hypopigmentation... ORPHA:79432
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Baller-Gerold Syndrome
Optic nerve hypoplasia, Optic atrophy, Strabismus, Polymicrogyria, Agenesis of corpus callosum OMIM:218600
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Chediak-Higashi Syndrome
Nystagmus, Decreased nerve conduction velocity, Tremor, Ocular albinism, Strabismus, Macular hypo... OMIM:214500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nystagmus, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Dystonia OMIM:620330
Joubert Syndrome 17
Molar tooth sign on MRI, Abnormal retinal morphology OMIM:614615
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:95494
Vici Syndrome
Nystagmus, Cerebellar vermis hypoplasia, Macular atrophy, Microcephaly, Ocular albinism, Gray mat... OMIM:242840
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Microcephaly, Retinal vascular proliferation, Optic ... OMIM:308300
Jacobsen Syndrome
Microcephaly, Optic atrophy, Strabismus, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia OMIM:147791
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Joubert Syndrome 8
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy OMIM:612291
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... ORPHA:485421
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Dihydropyrimidine Dehydrogenase Deficiency
Nystagmus, Microcephaly, Cerebral atrophy, Strabismus, Macular hypoplasia ORPHA:1675
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum ORPHA:264200
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Alternating esotropia, Cerebellar vermis hypoplasia, Microcephaly, Limb tr... OMIM:619841
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Cerebral atrophy, Atrophy/Degeneration affectin... ORPHA:356961
Mend Syndrome
Macular hypoplasia, Dandy-Walker malformation, Esotropia OMIM:300960
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab... ORPHA:79139
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... OMIM:216400
Duplication Of The Pituitary Gland
Congenital stationary night blindness, Abnormal midbrain morphology ORPHA:314621
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... ORPHA:68
Neuroocular Syndrome
Hypoplasia of the fovea, Nystagmus, Remnants of the hyaloid vascular system, Microcephaly, Lens c... OMIM:619539
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta... OMIM:133540
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Abnormal autonomic nervous system physiology ORPHA:293987

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 Pou4f2

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 Pou4f2.

No publications found that use IMPC mice or data for Pou4f2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pou4f2tm212205(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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