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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Foveal Hypoplasia 1
Hypoplasia of the fovea, Congenital nystagmus OMIM:136520
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy, Cerebellar vermis hypoplasia, Impaired smooth pursuit, Strabis... OMIM:618800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Leukodystrophy, Hypomyelinating, 16
Horizontal pendular nystagmus, Gaze-evoked nystagmus, Saccadic smooth pursuit, Vertical nystagmus... OMIM:617964
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Nystagmus, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Saccadic smooth pursuit, Intention tremor, Peripheral axonal neuropathy OMIM:620221
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Microcephaly, Nystagmus OMIM:620086
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Cerebral Visual Impairment
Abnormality of eye movement, Optic atrophy, Strabismus, Impaired smooth pursuit, Dysmetric saccad... ORPHA:447788
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
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
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia, Lissencephaly, Optic nerve hy... OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Cereb... OMIM:615181
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Joubert Syndrome 40
Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Cerebral cortical atrophy, Abnormal optic nerve morphology, Strabismus, Tremor, Ce... ORPHA:33445
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Nystagmus, Macular atrophy OMIM:616517
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Oculocutaneous Albinism Type 6
Nystagmus, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morpholo... ORPHA:370097
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Polymicrogyria, Hypoplasia of the brainstem... ORPHA:171680
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Cognitive Impairment With Or Without Cerebellar Ataxia
Esophoria, Strabismus, Gaze-evoked nystagmus, Optic nerve hypoplasia OMIM:614306
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Nystagmus, Remnants of the hyaloid vascular system, Morning glory anomaly, O... OMIM:165550
Foveal Hypoplasia 2
Foveal hyperpigmentation, Strabismus, Optic nerve misrouting, Hypoplasia of the fovea, Alternatin... OMIM:609218
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Jerky ocular pursuit movements, Strabismus, Peripheral axonal neuropathy, Nystagmu... OMIM:610743
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of the fundus, Nystagmus OMIM:606574
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cerebral cortical atrophy, Chorioretinal coloboma, Strabismus, Cerebellar hypoplas... ORPHA:163937
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Dystonia 34, Myoclonic
Duane anomaly, Hypermetric saccades, Hand tremor, Impaired smooth pursuit, Rotary nystagmus, Head... OMIM:619724
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Strabismus, Microcephaly, Nystagmus, Optic nerve hypoplasia OMIM:613638
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the pons, Impaired smooth pursuit, Cerebe... OMIM:277470
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea, Nystagmus OMIM:615312
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Abnormal visual fixation, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:618890
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:253280
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, ... ORPHA:1528
5Q14.3 Microdeletion Syndrome
Strabismus, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebellar v... ORPHA:228384
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Saccadic smooth pursuit, Peripheral axonal neuropathy, Torticollis OMIM:619686
Autosomal Recessive Spastic Paraplegia Type 15
Abnormality of eye movement, Pigmentary retinopathy, Saccadic smooth pursuit, Hand tremor, Hypopl... ORPHA:100996
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Saccadic smooth pursuit, Dysmetric saccades, Intention tremor ORPHA:466794
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormality of eye movement, Gaze-evoked nystagmus, Macular degeneration, Resting tremor, Impaire... ORPHA:247234
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebral cortical atrophy, Vertical supranuclear gaze palsy, Postural tremor, Trem... OMIM:607694
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Leukodystrophy, Hypomyelinating, 9
Cerebral atrophy, Pendular nystagmus, Rotary nystagmus, Hypoplasia of the corpus callosum, Microc... OMIM:616140
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Spinocerebellar Ataxia 27A
Impaired smooth pursuit, Strabismus, Postural tremor, Absent smooth pursuit, Upbeat nystagmus, Ab... OMIM:193003
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Peroxisome Biogenesis Disorder 6B
Impaired smooth pursuit, Dysmetric saccades, Motor axonal neuropathy, Nystagmus, Intention tremor... OMIM:614871
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Congenital Glaucoma
Retinal detachment ORPHA:98976
Spinocerebellar Ataxia 15
Impaired smooth pursuit, Postural tremor, Gaze-evoked horizontal nystagmus, Dysmetric saccades, A... OMIM:606658
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Impaired smooth pursuit, Attenuation of retinal blood vessels, Peripapill... OMIM:613843
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Saccadic smooth pursuit, Strabismus, Action tremor, Cerebellar hypo... ORPHA:314978
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... ORPHA:370959
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Strabismus, Agenesis of corpus callosum, Microcephaly, Dandy-Walker malfo... OMIM:618736
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Aland Island Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus, Nystagmus OMIM:300600
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Saccadic smooth pursuit, Macular degeneration, Horizontal nystagmus, Dysmetric saccades, Downbeat... ORPHA:284289
Septooptic Dysplasia
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Saccadic smooth pursuit, Impaired horizontal smooth pursuit, Decreased distal sensory nerve actio... OMIM:614575
Joubert Syndrome 2
Optic disc coloboma, Chorioretinal coloboma, Hypoplasia of the brainstem, Abnormal saccadic eye m... OMIM:608091
Spinocerebellar Ataxia Type 11
Dystonia, Vertical nystagmus, Jerky ocular pursuit movements, Horizontal nystagmus ORPHA:98767
Spinocerebellar Ataxia 8
Impaired smooth pursuit, Dysmetric saccades, Tremor, Slow saccadic eye movements, Nystagmus OMIM:608768
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Strabismus, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Agenesis of cerebellar... OMIM:213300
Spinocerebellar Ataxia 2
Postural tremor, Impaired horizontal smooth pursuit, Dysmetric saccades, Action tremor, Ophthalmo... OMIM:183090
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Strabismus, Hypoplasia of the corpus callosum, Esotropia, E... ORPHA:401777
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Nystagmus, Optic nerve hypoplasia OMIM:620502
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Strabismus, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... OMIM:617914
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Cerebral cortical atrophy, Vertical supranuclear gaze palsy, Autonomic bladder dys... ORPHA:447896
Ă…land Islands Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus, Nystagmus ORPHA:178333
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Nystagmus OMIM:113750
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spinocerebellar Ataxia 5
Strabismus, Rotary nystagmus, Impaired smooth pursuit, Intention tremor, Cerebellar hypoplasia, H... OMIM:600224
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Horizontal nystagmus, Impaired horizontal smooth pursuit, Hypoplasia of the corpus... OMIM:614381
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Aplasia/Hypoplasia of the cerebellum, Strabismus, Optic nerve hypoplasia ORPHA:572013
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Nystagmus OMIM:619165
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Impaired smooth pursuit, Hypermyelinated retinal nerve... OMIM:270550
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Impaired smooth pursuit, Peripheral axonal neuropathy, Supranuclear ga... OMIM:133190
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Spinocerebellar Ataxia 46
Jerky ocular pursuit movements, Slow saccadic eye movements, Sensory axonal neuropathy, Nystagmus OMIM:617770
Spinocerebellar Ataxia 19
Saccadic smooth pursuit, Postural tremor, Gaze-evoked horizontal nystagmus, Intermittent microsac... OMIM:607346
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Lissencephaly, Optic n... OMIM:614833
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Saccadic smooth pursuit, Hypermetric saccades, Postural tremo... OMIM:619862
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Congenital Hydrocephalus
Optic atrophy, Abnormal cortical gyration, Strabismus, Macular hypoplasia, Lissencephaly ORPHA:2185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus ca... OMIM:614643
Optic Atrophy 14
Optic disc pallor OMIM:620550
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 14
Hypometric saccades, Jerky ocular pursuit movements, Intention tremor, Nystagmus OMIM:615386
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Ataxia-Telangiectasia-Like Disorder 1
Gaze-evoked nystagmus, Impaired smooth pursuit, Hypometric saccades, Horizontal jerk nystagmus, O... OMIM:604391
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Aniridia 1
Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Polymicrogyr... OMIM:106210
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Esotropia, Peripheral axonal neuropathy, Nystagmus, Optic nerve hypoplasia ORPHA:496790
Congenital Fibrosis Of Extraocular Muscles
Limited vertical extraocular movement, Marcus Gunn jaw winking synkinesis, Abnormality of ocular ... ORPHA:45358
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Impaired smooth pursuit, Periventric... ORPHA:255138
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Gaze-evoked nystagmus, Vertical nystagmus, Dysmetric saccades, Slow... ORPHA:251347
Spinocerebellar Ataxia 26
Impaired horizontal smooth pursuit, Dysmetric saccades, Nystagmus OMIM:609306
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Strabismus, Facial diplegia, Cerebellar hypoplasia,... OMIM:617302
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Saccadic smooth pursuit, Hypoplasia of the pons, Hand tremor, Parietal cortical atrophy, Horizont... ORPHA:412057
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Strabismus, Hypoplasia of the corpus callosum, Microcephaly, Nystagmus... OMIM:617864
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Spinocerebellar Ataxia Type 26
Impaired horizontal smooth pursuit, Dysmetric saccades, Nystagmus ORPHA:101112
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Microcephaly, Retinal detachment, Reti... OMIM:620157
Isolated Aniridia
Aniridia, Aplasia/Hypoplasia of the macula, Nystagmus ORPHA:250923
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Spinocerebellar Ataxia 13
Optic atrophy, Jerky ocular pursuit movements, Nystagmus OMIM:605259
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Saccadic smooth pursuit, Nystagmus ORPHA:404499
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Nystagmus, Intention tremor, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:618381
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Microcephaly, Absent smooth pursuit,... ORPHA:438114
Spinocerebellar Ataxia, Autosomal Recessive 2
Saccadic smooth pursuit, Tremor, Cerebellar hypoplasia, Nystagmus, Gaze-evoked nystagmus OMIM:213200
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the brainstem, Impaired smooth purs... ORPHA:572798
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Strabismus, Cerebellar hypoplasia, Progressive microcephaly, Absent smooth pursuit ORPHA:329178
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal saccadic eye movements, Strabismus, Type II lissencephaly, Hypoplasia of the corpus call... ORPHA:300570
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Autosomal Recessive Ataxia, Beauce Type
Ophthalmoparesis, Arm dystonia, Sensory axonal neuropathy, Abnormal saccadic eye movements, Strab... ORPHA:88644
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Jerky ocular pursuit movements, Strabismus, Horizontal nystagmus, Dysmetric saccades, Nystagmus, ... ORPHA:352403
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Nystagmus, ... OMIM:183086
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Cerebellar hypoplasia, Microcephaly, Progressive microcephaly, Dandy-Walker... OMIM:300953
Spinocerebellar Ataxia Type 13
Upgaze palsy, Optic atrophy, Jerky ocular pursuit movements, Nystagmus, Torticollis, Optic disc p... ORPHA:98768
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Hypoplasia of the pons, Retinal coloboma, Hypoplasia of the brainstem, St... OMIM:300749
Spinocerebellar Ataxia, Autosomal Recessive 15
Saccadic smooth pursuit, Nystagmus OMIM:615705
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Spinocerebellar Ataxia Type 14
Saccadic smooth pursuit, Gaze-evoked nystagmus, Tremor ORPHA:98763
Spastic Paraplegia 54, Autosomal Recessive
Strabismus, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:615033
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Impaired horizontal smooth pursuit, Hypoplasia of the corpus callosum, Tremor, ... OMIM:612164
Nabais Sa-De Vries Syndrome, Type 1
Simplified gyral pattern, Primary microcephaly, Optic nerve hypoplasia OMIM:618828
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gaze-evoked horizontal nystagmus, Nystagmus, Abnormality of ocular smooth pursuit ORPHA:284271
Lissencephaly Due To Lis1 Mutation
Anterior predominant thick cortex pachygyria, Cerebellar vermis hypoplasia, Impaired smooth pursu... ORPHA:95232
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Pantothenate Kinase-Associated Neurodegeneration
Abnormality of eye movement, Optic atrophy, Pigmentary retinopathy, Saccadic smooth pursuit, Dysm... ORPHA:157850
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Cerebral atrophy, Impaired pursuit initiation and maintenance, Hypoplasia of the c... ORPHA:137898
Hyperlysinemia, Type I
Optic nerve hypoplasia OMIM:238700
Albinism, Ocular, Type I
Ocular albinism, Hypoplasia of the fovea, Nystagmus, Nystagmus-induced head nodding, Depigmented ... OMIM:300500
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebral atrophy, Impaired smooth pursuit, Nystagmus, Dystonia, Intention tremor OMIM:610217
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Saccadic smooth pursuit, Intention tremor, Nystagmus ORPHA:1175
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
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
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy OMIM:615651
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Jerky ocular pursuit movements, Hypermetric saccades, Torticollis, Gaz... OMIM:618369
Neuroferritinopathy
Blepharospasm, Arm dystonia, Resting tremor, Impaired smooth pursuit, Leg dystonia, Caudate atrop... ORPHA:157846
Cardiofaciocutaneous Syndrome 4
Cerebellar hypoplasia, Strabismus, Nystagmus, Optic nerve hypoplasia OMIM:615280
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Strabismus, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cer... OMIM:617193
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Impaired smooth pursuit, Retinal degeneration, Corpus callosum atrophy... OMIM:248500
Spinocerebellar Ataxia Type 10
Gaze-evoked nystagmus, Impaired smooth pursuit, Nystagmus, Kinetic tremor, Intention tremor ORPHA:98761
Long-Olsen-Distelmaier Syndrome
Pachygyria, Polymicrogyria, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Saccadic smooth pursuit, Decreased compound muscle action potential am... OMIM:606353
Spinocerebellar Ataxia 11
Jerky ocular pursuit movements, Nystagmus OMIM:604432
Machado-Joseph Disease
External ophthalmoplegia, Impaired horizontal smooth pursuit, Dysmetric saccades, Supranuclear op... OMIM:109150
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Microcephaly, Optic nerve hypoplasia ORPHA:85284
Septo-Optic Dysplasia Spectrum
Strabismus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Nystagmus, Septo-o... ORPHA:3157
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Spinocerebellar Ataxia, Autosomal Recessive 11
Gaze-evoked horizontal nystagmus, Impaired smooth pursuit OMIM:614229
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Nystagmus, Abnormal fundus morphology, Ocular albinism ORPHA:370091
Huntington Disease-Like 1
Abnormality of eye movement, Cerebral cortical atrophy, Jerky ocular pursuit movements, Abnormal ... ORPHA:157941
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Saccadic smooth pursuit, Horizontal nystagmus, Postural tremor, Dysmetric saccades, Oculomotor ap... ORPHA:284324
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Spastic Paraplegia 46, Autosomal Recessive
Jerky ocular pursuit movements, Cerebral atrophy, Hand tremor, Head tremor, Hypoplasia of the cor... OMIM:614409
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Strabismus, Hypoplasia of the fovea, Exotropia, Nystagmus OMIM:203200
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Impaired smooth pursuit, Strabismus, Nystagmus, Polymicrogyria ORPHA:488613
Spinocerebellar Ataxia 36
Vertical supranuclear gaze palsy, Slow saccadic eye movements, Nystagmus, Impaired smooth pursuit OMIM:614153
Spinocerebellar Ataxia 4
Impaired smooth pursuit OMIM:600223
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the... OMIM:617406
Spinocerebellar Ataxia Type 19/22
Ophthalmoplegia, Nystagmus, Impaired smooth pursuit ORPHA:98772
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Jerky ocular pursuit movements, Cerebral atrophy, Head tremor, Periphe... ORPHA:320391
Stt3A-Cdg
Microcephaly, Impaired smooth pursuit ORPHA:370921
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Global brain atrophy, Hypoplasia of the pon... OMIM:615574
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Ophthalmoparesis, Saccadic smooth pursuit, Action tremor, Oromandibular dystonia, ... ORPHA:101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Strabismus, Optic nerve hypoplasia ORPHA:363686
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypoplasia of ... OMIM:236670
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callos... ORPHA:496641
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Episodic Ataxia Type 4
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus ORPHA:79136
Spinocerebellar Ataxia 17
Gaze-evoked nystagmus, Impaired pursuit initiation and maintenance, Diffuse cerebral atrophy, Dys... OMIM:607136
Rabin-Pappas Syndrome
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly, R... OMIM:620155
Squalene Synthase Deficiency
Polymicrogyria, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:618156
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, Cerebral atrophy, Strabismus, Hypoplasia of the corpus callosum, Microcep... OMIM:612513
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Nystagmus, Impaired smooth pursuit OMIM:603516
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Strabismus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... OMIM:301056
Verheij Syndrome
Microcephaly, Cerebral atrophy, Optic nerve hypoplasia OMIM:615583
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Spinocerebellar Ataxia, Autosomal Recessive 26
Saccadic smooth pursuit, Oculomotor apraxia, Hypermetric saccades, Horizontal nystagmus OMIM:617633
19P13.13 Microdeletion Syndrome
Optic atrophy, Strabismus, Hypoplasia of the frontal lobes, Corpus callosum atrophy, Nystagmus, O... ORPHA:357001
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Spinocerebellar Ataxia Type 8
Dystonia, Hypoplasia of the pons, Nystagmus, Impaired smooth pursuit ORPHA:98760
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Motor axonal neuropathy, Impaired smooth pursuit ORPHA:247815
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Nephronophthisis 14
Retinal degeneration OMIM:614844
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Phace Association
Optic atrophy, Cerebellar hypoplasia, Horner syndrome, Increased retinal vascularity, Microphthal... OMIM:606519
Episodic Ataxia, Type 4
Esophoria, Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus OMIM:606552
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Achromatopsia 2
Retinal thinning, Pendular nystagmus, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of th... OMIM:216900
Spinocerebellar Ataxia 21
Hypermetric saccades, Microsaccadic pursuit, Strabismus, Postural tremor, Slow saccadic eye movem... OMIM:607454
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
16Q24.3 Microdeletion Syndrome
Strabismus, Periventricular heterotopia, Hypoplasia of the corpus callosum, Nystagmus, Optic nerv... ORPHA:261250
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Episodic Ataxia, Type 2
Dystonia, Downbeat nystagmus, Saccadic smooth pursuit, Gaze-evoked nystagmus OMIM:108500
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Chorioretinal coloboma, Strabismus, Rotary nystagmus, Agenesis of corpus callosum,... OMIM:615219
D-Glyceric Aciduria
Opisthotonus, Microcephaly, Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:220120
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Fanconi Anemia, Complementation Group I
Microphthalmia, Microcephaly, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:609053
Spinocerebellar Ataxia 42
Saccadic smooth pursuit, Tremor, Horizontal nystagmus OMIM:616795
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Jerky ocular pursuit movements, Nystagmus ORPHA:1177
Microcephaly, Amish Type
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the fovea, Cerebellar hypoplasia, Prim... OMIM:607196
Oculocutaneous Albinism Type 4
Ocular albinism, Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of the f... ORPHA:79435
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Retinal coloboma OMIM:107550
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Saccadic smooth pursuit, Hypermetric saccades, Postural tremor, Oculomotor ap... OMIM:609270
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
White-Sutton Syndrome
Cerebral atrophy, Strabismus, Hypoplasia of the corpus callosum, Microcephaly, Exotropia, Rod-con... OMIM:616364
7Q11.23 Microduplication Syndrome
Strabismus, Impaired smooth pursuit, Cerebellar hypoplasia, Abnormal optic disc morphology, Esotr... ORPHA:96121
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Congenital nysta... ORPHA:2334
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Hypoplasia of the pons, Bilateral microphthalmos, Polymicrogyria, Cerebral a... ORPHA:468631
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Trichothiodystrophy 8, Nonphotosensitive
Craniofacial dystonia, Head titubation, Jerky ocular pursuit movements, Esodeviation OMIM:619691
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Developmental And Epileptic Encephalopathy 83
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Microcepha... OMIM:618744
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Intellectual Developmental Disorder, Autosomal Dominant 42
Global brain atrophy, Strabismus, Polymicrogyria, Impaired smooth pursuit, Limb dystonia, Esotrop... OMIM:616973
Short Stature, Microcephaly, And Endocrine Dysfunction
Sensory axonal neuropathy, Impaired smooth pursuit, Microcephaly, Nystagmus, Simplified gyral pat... OMIM:616541
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Postural tremor, Impaired smooth pursuit ORPHA:75567
Oculocutaneous Albinism Type 1
Strabismus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the choroidal... ORPHA:352731
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gaze-evoked nystagmus, Saccadic smooth pursuit, Strabismus, Head tremor, Postural tremor, Oculomo... ORPHA:64753
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Absent brainstem auditory response... ORPHA:101085
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Saccadic smooth pursuit, Resting tremor, Strabismus, Head tremor, Gaz... ORPHA:458803
Rhizomelic Chondrodysplasia Punctata, Type 2
Microcephaly, Optic nerve hypoplasia OMIM:222765
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Saccadic smooth pursuit, Strabismus, Hypoplasia of the corpus callosum... ORPHA:2822
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Strabismus, Cerebellar hypoplasia, Microcephaly, Facial palsy, Optic nerve hypoplasia ORPHA:261349
Linear Verrucous Nevus Syndrome
Strabismus, Aplasia/Hypoplasia of the corpus callosum, Retinopathy, Aplasia/Hypoplasia of the fov... ORPHA:2611
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Fragile X Tremor/Ataxia Syndrome
Saccadic smooth pursuit, Resting tremor, Postural tremor, Action tremor, Diffuse cerebral atrophy... OMIM:300623
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Strabismus, Ocular albinism, Hypoplasia of the fovea, Nystagmus ORPHA:54
Stromme Syndrome
Cerebellar vermis hypoplasia, Retinal vascular tortuosity, Agenesis of corpus callosum, Cerebella... OMIM:243605
Anterior Segment Dysgenesis 5
Strabismus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Nystagmus, Microphth... OMIM:604229
Oculocutaneous Albinism Type 1B
Abnormal optic nerve morphology, Strabismus, Abnormality of retinal pigmentation, Hypoplasia of t... ORPHA:79434
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Saccadic smooth pursuit, Decreased motor nerve conduction velocity, Strabismus, Head tremor, Trem... OMIM:606002
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Strabismus, Optic nerve hypoplasia ORPHA:93932
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Gerstmann-Straussler Disease
Tremor, Impaired smooth pursuit OMIM:137440
Abetalipoproteinemia
Peripheral demyelination, Retinopathy, Retinal degeneration OMIM:200100
Spinocerebellar Ataxia Type 21
Intermittent microsaccadic pursuits, Nystagmus, Tremor ORPHA:98773
Oculoauricular Syndrome
Congenital nystagmus, Chorioretinal coloboma, Retinal coloboma, Horizontal nystagmus, Chorioretin... OMIM:612109
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Phace Syndrome
Retinal vascular malformation, Strabismus, Agenesis of corpus callosum, Cerebellar hypoplasia, Mi... ORPHA:42775
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Molar tooth sign on MRI OMIM:617121
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:206900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Strabismus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Eso... ORPHA:508498
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Horizontal nystagmus, Ocular albinism OMIM:614073
Hydranencephaly
Cerebral cortical atrophy, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, Optic nerve... ORPHA:2177
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Pancreatic And Cerebellar Agenesis
Cerebellar agenesis, Cerebellar hypoplasia, Microcephaly, Agenesis of cerebellar vermis, Optic ne... OMIM:609069
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Aniridia 2
Optic atrophy OMIM:617141
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Intention tremor, Optic nerve hypoplasia OMIM:620029
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Familial Benign Copper Deficiency
Aplasia/Hypoplasia of the fovea ORPHA:1551
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Strabismus, Horizontal nystagmus, Visual fi... ORPHA:495875
Meckel Syndrome 13
Retinopathy, Molar tooth sign on MRI OMIM:617562
Hermansky-Pudlak Syndrome 5
Strabismus, Horizontal nystagmus, Ocular albinism, Hypoplasia of the fovea, Nystagmus OMIM:614074
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Dandy-Walker malfo... OMIM:605627
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Intention tremor, Optic nerve hypoplasia ORPHA:221139
Wolfram Syndrome 2
Optic atrophy, Neurogenic bladder, Optic neuropathy OMIM:604928
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Microcephaly, Strabismus OMIM:613792
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Nystagmus, Dandy-Walker malformation, Optic nerve hypoplasia OMIM:617506
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Strabismus, Nystagmus, Ocular albinism OMIM:619172
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Agenesis of corpus callosum, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus callos... OMIM:603671
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Strabismus, Tractional retinal detachment, Macular... ORPHA:91495
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Agenesis of corpus callosum, Olivopontocerebellar hypoplasia, Hypoplasia of the corpus callosum, ... ORPHA:457284
Marshall-Smith Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypo... OMIM:602535
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Septo-optic dysplasia, Microcephaly, Optic nerve hypoplasia OMIM:301043
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Microcephaly, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Hermansky-Pudlak Syndrome 8
Horizontal nystagmus, Ocular albinism, Pendular nystagmus, Hypoplasia of the fovea, Esotropia, Ex... OMIM:614077
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... ORPHA:352665
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Strabismus, Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Abnormal optic nerve morphology, Nystagmus, Ocular albinism ORPHA:79431
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Rhombencephalosynapsis
Aganglionic megacolon, Agenesis of cerebellar vermis, Septo-optic dysplasia ORPHA:59315
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Strabismus, Anophthalmia, Microphthalmia, Optic nerv... ORPHA:141099
Albinism, Oculocutaneous, Type Ia
Strabismus, Ocular albinism, Hypoplasia of the fovea, Exotropia, Nystagmus OMIM:203100
Norrie Disease
Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment OMIM:310600
Knobloch Syndrome 1
Vitreoretinopathy, Cerebral atrophy, Polymicrogyria, Horizontal nystagmus, Attenuation of retinal... OMIM:267750
Congenital Sialidosis Type 2
Optic atrophy, Strabismus, Cherry red spot of the macula, Hypoplasia of the fovea, Yellow/white l... ORPHA:93400
Joubert Syndrome 6
Chorioretinal coloboma, Hypoplasia of the brainstem, Retinal degeneration, Elongated superior cer... OMIM:610688
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Global brain atrophy, Polymicrogyria, Strabismus, Hypoplas... ORPHA:500150
Congenital Primary Aphakia
Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
8Q24.3 Microdeletion Syndrome
Global brain atrophy, Bilateral microphthalmos, Retinal coloboma, Secondary microcephaly, Strabis... ORPHA:508488
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of the fovea, Macular hyp... ORPHA:79432
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma... OMIM:609049
Holoprosencephaly 9
Abnormal cortical gyration, Anophthalmia, Microcephaly, Microphthalmia, Partial agenesis of the c... OMIM:610829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Microcephaly, Exotropia, Optic nerve hypopl... OMIM:620455
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Hermansky-Pudlak Syndrome 6
Horizontal nystagmus, Strabismus, Ocular albinism, Rotary nystagmus, Macular hypoplasia, Nystagmu... OMIM:614075
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Baller-Gerold Syndrome
Optic atrophy, Polymicrogyria, Strabismus, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:218600
Chediak-Higashi Syndrome
Strabismus, Ocular albinism, Decreased nerve conduction velocity, Tremor, Macular hypoplasia, Nys... OMIM:214500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Nystagmus, Dystonia, Optic nerve hypoplasia OMIM:620330
Joubert Syndrome 17
Molar tooth sign on MRI, Abnormal retinal morphology OMIM:614615
Combined Pituitary Hormone Deficiencies, Genetic Forms
Agenesis of corpus callosum, Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons ORPHA:280195
Vici Syndrome
Cerebellar vermis hypoplasia, Hypopigmentation of the fundus, Ocular albinism, Agenesis of corpus... OMIM:242840
Incontinentia Pigmenti
Optic atrophy, Strabismus, Hypoplasia of the fovea, Retinal vascular proliferation, Microcephaly,... OMIM:308300
Jacobsen Syndrome
Optic atrophy, Chorioretinal coloboma, Strabismus, Macular hypoplasia, Microcephaly, Microphthalmia OMIM:147791
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Strabismus, Macular hypoplasia, Microcephaly, Nystagmus ORPHA:1675
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum ORPHA:264200
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal medulla oblongata morphology... ORPHA:206448
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Strabismus, Agenesis of corpus callosum, Microcephaly, Alternating ... OMIM:619841
Mend Syndrome
Esotropia, Macular hypoplasia, Dandy-Walker malformation OMIM:300960
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, C... ORPHA:356961
Japanese Encephalitis
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal substantia nigr... ORPHA:79139
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Congenital stationary night blindness ORPHA:314621
Neuroocular Syndrome 1
Hypoplasia of the fovea, Microcephaly, Exotropia, Remnants of the hyaloid vascular system, Microp... OMIM:619539
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem ORPHA:444072
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology, Fa... ORPHA:68
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

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter