banner
Genes Phenotypes Help, News, Blog

Gene: Rorb MGI:1343464

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RAR-related orphan receptor beta
Synonyms:
Rorbeta,  hstp,  Nr1f2,  RZR-beta

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 Rorb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rorb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior OMIM:618357

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark OMIM:608984
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Spermatogenic Failure 17
Male infertility OMIM:617214
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
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
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Ataxia, Retinal degeneration, Gait ataxia, Optic atrophy, Cerebellar atrophy OMIM:614322
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Ataxia, Retinal degeneration, Increased extraneuronal autofluorescent lipopigme... OMIM:204500
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Increased neuronal autofluorescent lipopigment, Loss of ambulation, Retinal ... OMIM:256731
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Cone-Rod Dystrophy 11
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Shyness OMIM:618221
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Anxiety, Dementia, Loss of ambulation, Retinal degeneration, Psychomotor de... OMIM:204200
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spermatogenic Failure 25
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... OMIM:617960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Macular degeneration, Irritability, Retinal degeneration, Psychomotor deterioration, Opti... OMIM:256730
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Spermatogenic Failure 30
Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility OMIM:618110
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Pigmentary retinopathy, Macular degeneration, Chorea, Tremor, Ment... OMIM:164500
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Optic Atrophy 5
Abnormality of pattern visual evoked potentials, Optic atrophy, Optic disc pallor OMIM:610708
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... OMIM:616269
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... OMIM:608161
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... OMIM:616188
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Macular degeneration, Impaired vibration sensation i... OMIM:604360
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Retinal degeneration, Optic atrophy, Aggressive behavior, C... OMIM:300438
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Bardet-Biedl Syndrome 16
Cognitive impairment, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... OMIM:618195
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Hereditary Geniospasm
Intention tremor, Abnormal social behavior ORPHA:53372
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired social interactions, Unsteady gait, Truncal... OMIM:608636
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Dementia, Retinal degeneration, Chorea OMIM:604290
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Optic atrophy, Inappropriate laughter OMIM:619323
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Tremor, Optic atrophy, Choreoathetosis ORPHA:391417
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Morm Syndrome
Retinal dystrophy, Aggressive behavior, Retinal atrophy ORPHA:75858
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:613660
Spermatogenic Failure 38
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618433
Ataxia With Vitamin E Deficiency
Gait disturbance, Ataxia, Dysdiadochokinesis, Tremor, Abnormality of retinal pigmentation, Abnorm... ORPHA:96
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Falls, Inappropriate laughter, Chorea, Aggressive behavior, Dystonia OMIM:619150
Juvenile Neuronal Ceroid Lipofuscinosis
Emotional lability, Cognitive impairment, Pigmentary retinopathy, Anxiety, Optic disc pallor, Dem... ORPHA:79264
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Difficulty walking, Broad-based gait, Anxiety, Dementia, Retinal degeneration, ... ORPHA:79244
Nephronophthisis 14
Retinal degeneration OMIM:614844
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Abnormal auditory evoked potentia... OMIM:616648
Mucolipidosis Iv
Optic atrophy, Progressive neurologic deterioration, Dystonia, Retinal degeneration OMIM:252650
Abetalipoproteinemia
Retinopathy, Ataxia, Retinal degeneration OMIM:200100
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Nephronophthisis 15
Retinal degeneration OMIM:614845
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Inability to walk, Leg dystonia, Gait disturbance, Difficulty wa... ORPHA:255
Aceruloplasminemia
Torticollis, Limb ataxia, Apathy, Ataxia, Blepharospasm, Cognitive impairment, Macular degenerati... ORPHA:48818
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Frontotemporal Dementia
Apathy, Inappropriate laughter, Dementia, Frontal lobe dementia, Irritability, Frontotemporal dem... OMIM:600274
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluorescent macular l... OMIM:617406
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Ataxia, Abnormal retinal nerve f... ORPHA:1215
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Ataxia, Retinal atrophy, Cognitive impairment, Head titubation, Retinal dystrophy ORPHA:370022
Mepan Syndrome
Limb dystonia, Gait disturbance, Cerebral atrophy, Ataxia, Axial dystonia, Hemidystonia, Abnormal... ORPHA:508093
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Impaired social interactions, Inability to walk, Dystonia OMIM:617820
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Macular degeneration, Progressive gait ataxia, Intent... ORPHA:284289
Pick Disease Of Brain
Apathy, Inappropriate laughter, Frontotemporal dementia, Irritability, Emotional blunting, Dimini... OMIM:172700
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy OMIM:604393
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Pigmentary retinopathy, Laryngeal dystonia, Dystonia, Torticollis,... ORPHA:99
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Dem... ORPHA:168782
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Non-Specific Early-Onset Epileptic Encephalopathy
Unsteady gait, Ataxia, Difficulty walking, Retinal degeneration, Tremor, Mental deterioration, Op... ORPHA:442835
Pantothenate Kinase-Associated Neurodegeneration
Craniofacial dystonia, Emotional lability, Limb dystonia, Rod-cone dystrophy, Gait disturbance, L... ORPHA:157850
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Ataxia, Retinal atrophy, Cerebellar atrophy, Neuronal loss in central nervous s... OMIM:610127
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Retinal degeneration OMIM:616896
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Unst... ORPHA:364055
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Kinetic tremor, Impaired social interactions OMIM:611092
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Anxiety, Motor deterioration, Dementia, Retinal dege... ORPHA:168491
Spastic Paraplegia 15, Autosomal Recessive
Emotional lability, Ataxia, Macular degeneration, Retinal degeneration, Spastic gait OMIM:270700
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Cerebral atrophy, Ataxia, Optic disc pallor, Retinal degeneration, Macular colob... OMIM:619260
Spinocerebellar Ataxia Type 29
Ataxia, Cognitive impairment, Dysdiadochokinesis, Gait ataxia, Intention tremor, Delayed social d... ORPHA:208513
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Coloboma Of Macula
Macular coloboma OMIM:120300
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, Ataxia, Cerebellar cortical ... ORPHA:247234
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Cerebral cortical atrophy, Dystonia, Choroidal neovascularization ORPHA:404451
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Gait disturbance, Hand tremor, Unsteady gait, Retinal atrophy, Difficulty walking, C... ORPHA:412057
Hsd10 Disease, Infantile Type
Choreoathetosis, Loss of ambulation, Paroxysmal bursts of laughter, Retinal degeneration, Optic a... ORPHA:391428
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Mohr-Tranebjaerg Syndrome
Inability to walk, Global brain atrophy, Absent brainstem auditory responses, Generalized dystoni... ORPHA:52368
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Foxg1 Syndrome
Impaired social interactions, Inability to walk, Optic disc hypoplasia, Difficulty walking, Cogni... ORPHA:561854
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Ataxia, Cone/cone-rod dystrophy OMIM:249270
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Progressive cerebellar ataxia, Gait disturbance, Postura... ORPHA:98755
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Macular dots, Macular crystals, Retinal pigment epithelia... OMIM:270200
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Gait disturbance, Abnormality of visual evoked potentials ORPHA:2971
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Impaired social interactions, Dystonia, Limb ataxia, Ataxia, Cognitive impairment, Anxiety, Dysdi... OMIM:615157
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Cln5 Disease
Inability to walk, Unsteady gait, Ataxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Corpus ... ORPHA:228360
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Undetectable visual evoked potentials, Gait ataxia, Arm dystonia, Episodic ataxia, Optic ... OMIM:601338
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Difficulty walking, Dementia, Progressive gait ataxia, Abnormal social behavi... ORPHA:309271
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Cerebral atrophy, Ataxia, Unsteady gait, Optic disc pallor, Abnormality of pat... ORPHA:1947
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Optic disc pallor, Decreased motor nerve conduction velocity, Abnormality of visua... OMIM:601152
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Intention tremor, Progress... ORPHA:309263
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Ataxia, Anxiety, Chorea, Tremor, Action tremor, Aggressive behavior... OMIM:619738
Exudative Vitreoretinopathy 6
Retinal exudate, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal... OMIM:616468
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
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
Alg6-Cdg
Rod-cone dystrophy, Ataxia, Retinal degeneration ORPHA:79320
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... OMIM:605549
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Atypical Rett Syndrome
Impaired pain sensation, Impaired social interactions, Inability to walk, Gait disturbance, Inapp... ORPHA:3095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Optic disc pallor, Retinopathy, Optic atrophy, Cerebellar atrophy OMIM:616171
Retinitis Pigmentosa 23
Absent foveal reflex, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment e... OMIM:300424
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Ataxia, Unsteady gait, Decreased nerve conduction velocity, Abnormality of visu... OMIM:256600
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia,... ORPHA:309256
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615986
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:320401
Pelizaeus-Merzbacher Disease
Gait disturbance, Ataxia, Abnormality of visual evoked potentials, Optic atrophy, Choreoathetosis ORPHA:702
Bardet-Biedl Syndrome 17
Macular atrophy, Cone/cone-rod dystrophy, Cognitive impairment, Retinal degeneration, Bone spicul... OMIM:615994
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked... ORPHA:352731
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Limb ataxia, Ataxia, Decreased amplitude of sensory ... OMIM:229300
Manganese Poisoning
Emotional lability, Gait disturbance, Inappropriate laughter, Postural tremor, Irritability, Memo... ORPHA:306682
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Dysmetria OMIM:619780
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Autosomal Recessive Spastic Paraplegia Type 11
Emotional lability, Inability to walk, Gait disturbance, Ataxia, Dementia, Memory impairment, Ret... ORPHA:2822
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Abnormal social behavior ORPHA:444002
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Shyness, Waddling gait, Dystonia OMIM:614066
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Gait disturbance, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked p... OMIM:125310
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti... OMIM:120970
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal detachment, Retinal coloboma, Optic nerve hypoplasia OMIM:615113
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Scheie Syndrome
Retinal degeneration OMIM:607016
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Refsum Disease, Classic
Somatic sensory dysfunction, Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Iris coloboma, Retinal coloboma OMIM:216820
Classic Galactosemia
Oligomenorrhea, Decreased fertility in females, Premature ovarian insufficiency, Gait disturbance... ORPHA:79239
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Shyness, Waddling gait, Dystonia ORPHA:280763
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Ataxia, Dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Abnormal social behavior ORPHA:101039
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Happy demeanor, Ataxia, Broad-based gait ORPHA:411515
Obsolete: Early-Onset Schizophrenia
Emotional lability, Suicidal ideation, Shyness, Abnormal emotion/affect behavior, Cognitive impai... ORPHA:96369
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... ORPHA:436245
Infantile Neuroaxonal Dystrophy
Gait disturbance, Unsteady gait, Ataxia, Abnormal autonomic nervous system physiology, Abnormalit... ORPHA:35069
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Abnormal social behavior ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Ataxia, Blepharospasm, Pigmentary retinopathy, Dementia, Retinal degeneration, ... OMIM:234200
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Cognitive impairment, Anxiety, Dementia, Frontal lobe demen... ORPHA:2828
Tonne-Kalscheuer Syndrome
Shyness, Anxiety, Tremor, Self-injurious behavior, Aggressive behavior, Broad-based gait OMIM:300978
Renal Coloboma Syndrome
Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma ORPHA:1475
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Aggressive behavior, No social interaction ORPHA:329249
Joubert Syndrome 6
Chorioretinal coloboma, Ataxia, Retinal degeneration OMIM:610688
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality of vis... OMIM:231550
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal atrophy, Epiretinal membrane, Optic disc pallor, Retinal pigment epithelial atrophy, Phot... OMIM:616959
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Ataxia, Retinal degeneration OMIM:272200
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor, Abnormality of visual evok... ORPHA:485421
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Ataxia, Difficulty walking, Loss of ambulation, Decreased nerve conduction velo... ORPHA:206443
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Dystonic gait, Abnormality of visual evoked potentials ORPHA:480898
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Spinocerebellar Ataxia Type 7
Somatic sensory dysfunction, Ataxia, Cone/cone-rod dystrophy, Macular degeneration, Dysdiadochoki... ORPHA:94147
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Cerebral cortical atrophy, Rod-cone dystrophy, R... ORPHA:166035
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormality of visual evoked potentials, Abnormal optic... ORPHA:79431
Leber Congenital Amaurosis 15
Peripapillary atrophy, Eye poking, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor,... OMIM:613843
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Unsteady gait, Decreased nerve conduction velocity, Abnormal auditory evoked po... OMIM:601455
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Optic atrophy... OMIM:616875
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Memory impairment, Abnormal social behav... ORPHA:314647
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Micro Syndrome
Optic atrophy, Retinal coloboma, Abnormality of visual evoked potentials, Abnormality of retinal ... ORPHA:2510
Developmental And Epileptic Encephalopathy 3
Brain atrophy, Cerebral atrophy, Abnormality of visual evoked potentials OMIM:609304
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Opisthotonus, Happy deme... OMIM:103050
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Retinal detachment, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Familial Peripheral Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Retinal degeneration, Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Cere... OMIM:248500
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Impaired social interactions, Progressive language deterioration, Ataxia OMIM:610042
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Pigmentary retinopathy, Dementia, Memory impairment, Retinal degeneration, Abnormality of... ORPHA:79282
Bardet-Biedl Syndrome 1
Ataxia, Hyperautofluorescent macular lesion, Aganglionic megacolon, Retinal degeneration, Gait im... OMIM:209900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Paget Disease Of Bone 5, Juvenile-Onset
Retinopathy, Retinal degeneration, Angioid streaks of the fundus, Macular scar OMIM:239000
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Niemann-Pick Disease Type C
Limb dystonia, Gait disturbance, Apathy, Ataxia, Axial dystonia, Cognitive impairment, Progressiv... ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Cockayne Syndrome
Retinal hemorrhage, Somatic sensory dysfunction, Gait disturbance, Ataxia, Retinal atrophy, Diffi... ORPHA:191
Mucopolysaccharidosis Type 3
Gait disturbance, Ataxia, Pigmentary retinopathy, Progressive neurologic deterioration, Dementia,... ORPHA:581
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... ORPHA:448237
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Cockayne Syndrome Type 3
Retinal hemorrhage, Unsteady gait, Difficulty walking, Retinal atrophy, Cognitive impairment, Pro... ORPHA:90324
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Gait ataxia, Aggressive behavior, Retinal degeneration OMIM:618479
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Trichothiodystrophy
Macular degeneration, Retinal degeneration, Gait ataxia, Intention tremor, Reduced social recipro... ORPHA:33364
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Choroidal neovascularization, Angioid streaks of the... OMIM:264800
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Emotional lability, Self-mutilation, Inability to walk, Hand tremor, Inappropriate laughter, Wadd... ORPHA:457212
Spastic Paraplegia 52, Autosomal Recessive
Loss of ambulation, Shyness OMIM:614067
48,Xxxy Syndrome
Anxiety, Abnormal aggressive, impulsive or violent behavior, Irritability, Tremor, Abnormal socia... ORPHA:96263
Ring Chromosome Y Syndrome
Female infertility, Azoospermia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male h... ORPHA:261529
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Shyness, Anxiety, Irritability, Self-injurious behavior, Aggressive... ORPHA:449291
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Nephronophthisis 11
Retinal degeneration OMIM:613550
Mucopolysaccharidosis Type 2
Papilledema, Cognitive impairment, Progressive neurologic deterioration, Abnormality of retinal p... ORPHA:580
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin... ORPHA:85167
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, ... ORPHA:1675
Hurler Syndrome
Progressive neurologic deterioration, Retinal degeneration OMIM:607014
Cockayne Syndrome A
Gait disturbance, Cerebral atrophy, Ataxia, Retinal atrophy, Pigmentary retinopathy, Retinal pigm... OMIM:216400
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Retinal detachment, Macular hyperpigmentation, Retin... OMIM:120330
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Werner Syndrome
Retinal degeneration OMIM:277700
Childhood Absence Epilepsy
Anxiety, Abnormal social behavior ORPHA:64280
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Luscan-Lumish Syndrome
Anxiety, Aggressive behavior, Shyness OMIM:616831
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Infantile Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Cherry red spot of the macula, Opi... ORPHA:206436
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Male infertility OMIM:613807
49,Xxxxy Syndrome
Overfriendliness, Shyness, Irritability, Tremor, Low frustration tolerance ORPHA:96264
Fg Syndrome Type 1
Abnormal social behavior, Optic nerve hypoplasia, Broad-based gait ORPHA:93932
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Enlarged flash visual evoked potentials, Retinal atrophy, Retinal degeneration, Hypoplasia of the... OMIM:253280
Metachromatic Leukodystrophy
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Tip-toe gait, Tremor, Abnormality ... ORPHA:512
Kniest Dysplasia
Rhegmatogenous retinal detachment, Vitreoretinopathy, Retinal detachment, Degenerative vitreoreti... ORPHA:485
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Brain atrophy, Abnormality of visual evoked potentials OMIM:614457
Cerebrotendinous Xanthomatosis
Gait disturbance, Global brain atrophy, Ataxia, Abnormal retinal vascular morphology, Optic neuro... ORPHA:909
Cancer-Associated Retinopathy
Granular macular appearance, Retinal atrophy, Optic disc pallor, Vitritis, Retinal pigment epithe... ORPHA:71505
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
White-Sutton Syndrome
Cerebral atrophy, Optic nerve hypoplasia, Waddling gait, Abnormality of visual evoked potentials,... OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Optic atrophy OMIM:236670
Bohring-Opitz Syndrome
Optic atrophy, Happy demeanor, Inability to walk, Retinal atrophy ORPHA:97297
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Xq21 Microdeletion Syndrome
Reticular pigmentary degeneration, Ataxia, Choroideremia, Dysdiadochokinesis, Gait ataxia, Optic ... ORPHA:1435
Knobloch Syndrome
Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous humor morphology ORPHA:1571
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Anxiety, Abnormal social behavior, Happy demeanor, Sk... ORPHA:177907
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Dyst... ORPHA:79330
Spastic Paraplegia 51, Autosomal Recessive
Inability to walk, Shyness OMIM:613744
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Self-mutilation, Aggressive behavior, Shyness ORPHA:293948
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Farber Disease
Cherry red spot of the macula, Macular degeneration, Brain atrophy ORPHA:333
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Chorioretinal hypopigmentation, Anxiety, Abnormal social behavior, ... ORPHA:805
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Say-Barber-Miller Syndrome
Macular degeneration, Lingual dystonia, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Cockayne Syndrome B
Cerebral atrophy, Ataxia, Pigmentary retinopathy, Decreased nerve conduction velocity, Tremor, Ab... OMIM:133540
47,Xyy Syndrome
Azoospermia, Oligospermia, Male infertility ORPHA:8
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, Anxiety, Abnormal social behavior, Optic atrophy ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, Anxiety, Abnormal social behavior, Optic atrophy ORPHA:363958
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ataxia, Macular degeneration, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal d... OMIM:266920
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Optic atrophy, Abnormal retinal morphology, Retinal atrophy ORPHA:2785
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Pontocerebellar atrophy, Abnormality of visual evoked potentials ORPHA:258
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Ocular albinism, Abnormality of visual evoked potentials ORPHA:79430
Mend Syndrome
Aggressive behavior, Abnormal social behavior ORPHA:401973
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Ataxia, Cerebral cortical neurodegeneration, Abnormality of visual evoked poten... OMIM:203700
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Azoospermia, Male infertility, Primary amenorrhea ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary amenorrhea, Irregular menstruation, Decreased fertility, Male infertility, Male hypogonadism ORPHA:90793
Autosomal Recessive Malignant Osteopetrosis
Tremor, Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Williams Syndrome
Gait disturbance, Overfriendliness, Ataxia, Anxiety, Abnormal social behavior, Tremor, Gait imbal... ORPHA:904
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Shyness, Anxiety, Intention tremor, Aggressive behavior ORPHA:466791
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior OMIM:618357
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Primary amenorrhea, Hypergonadotropic hypogonadism, Azoospermia, ... ORPHA:251510
Alström Syndrome
Somatic sensory dysfunction, Ataxia, Cone/cone-rod dystrophy, Cognitive impairment, Optic disc pa... ORPHA:64

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 Rorb

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 Rorb.

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

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
Rorbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rorbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rorbtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter