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

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 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
Sensory ataxia, Positive Romberg sign, Gait instability, worse in the dark OMIM:608984
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Distal sensory impairment, Unsteady gait OMIM:617017
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
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia, Attention deficit hyperactivity disorder OMIM:618221
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Myoclonus, Familial, 1
Ataxia, Falls OMIM:614937
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Ataxia, Irritability, Psychomotor dete... OMIM:256730
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Dysmetr... OMIM:256731
Dystonia With Ringbinden
Dystonia, Gait disturbance, Chorea OMIM:224550
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen OMIM:136550
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration OMIM:600977
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration ORPHA:85334
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Morm Syndrome
Hyperactivity, Retinal dystrophy, Retinal atrophy ORPHA:75858
Hypobetalipoproteinemia, Familial, 1
Ataxia, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Chorea, Macular degeneration, Tremor, Progressive cerebellar ataxia, Pi... OMIM:164500
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Abnormality of retinal pigmentation ORPHA:2579
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Broad-base... OMIM:117360
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... OMIM:608161
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Retinal degeneration OMIM:225755
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Bardet-Biedl Syndrome 16
Cognitive impairment, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Dementia, Rod-cone dystrophy, Macular degeneration, Psychomotor deterioration, Anx... OMIM:204200
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Spinocerebellar Ataxia 40
Dysmetria, Dysdiadochokinesis, Unsteady gait, Broad-based gait OMIM:616053
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Spastic gait, Macular degeneration, Impaired vibration sensation in the low... OMIM:604360
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Choreoathetosis, Aggressive behavior, Progressive neurologic... OMIM:300438
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... OMIM:613750
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy OMIM:616188
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen OMIM:608895
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Ataxia, Optic atrophy, Retinal degeneration OMIM:214980
Ataxia With Vitamin E Deficiency
Gait disturbance, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, D... ORPHA:96
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Optic disc pallor, Retinal degeneration, Motor deterioration, Cognitive impairment, Los... ORPHA:79264
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Hsd10 Disease
Optic atrophy, Gait disturbance, Choreoathetosis, Tremor, Ataxia, Abnormal social behavior ORPHA:391417
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Abetalipoproteinemia
Ataxia, Retinal degeneration, Retinopathy OMIM:200100
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Aceruloplasminemia
Dystonia, Abnormality of retinal pigmentation, Retinal degeneration, Torticollis, Chorea, Cogniti... ORPHA:48818
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Aceruloplasminemia
Dementia, Retinal degeneration, Torticollis, Chorea, Ataxia, Blepharospasm OMIM:604290
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage OMIM:264420
Dopa-Responsive Dystonia
Panic attack, Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Tremor, Inability to walk, I... ORPHA:255
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Mucolipidosis Iv
Dystonia, Optic atrophy, Retinal degeneration, Progressive neurologic deterioration OMIM:252650
Nephronophthisis 14
Retinal degeneration OMIM:614844
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Poor eye contact, Macular degeneration OMIM:612948
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... OMIM:610127
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Head titubation, Retinal dystrophy, Cognitive impairment, Ataxia, Retinal atrophy ORPHA:370022
Oguchi Disease
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy ORPHA:75382
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Retinal Detachment
Retinal detachment OMIM:180050
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Macular degeneration, P... ORPHA:284289
Nephronophthisis 15
Retinal degeneration OMIM:614845
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Somatic sensory dysfunction, Gait disturbance, Dementia, Ch... ORPHA:99
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Retinal degeneration, Motor deterioration, Aggressive behavior, Hyper... ORPHA:168491
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Dementia, Gait disturbance, Retinal degeneration, Dystonia, Choreoathetosis, Bull'... ORPHA:157850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atrophy OMIM:616171
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration OMIM:270200
Childhood Disintegrative Disorder
Dementia, Anxiety, Social and occupational deterioration, Mental deterioration, Motor deteriorati... ORPHA:168782
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Dementia, Gait disturbance, Retinal degeneration, Arm dystonia, Broad-based ... ORPHA:79244
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration, Tremor, Ataxia, Mental deterioration, Attention deficit hype... ORPHA:442835
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Spastic Paraplegia 15, Autosomal Recessive
Mood swings, Retinal degeneration, Spastic gait, Macular degeneration, Ataxia OMIM:270700
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Facial palsy, Retinal coloboma OMIM:107550
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Opisthotonus OMIM:616896
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Abnormality of somatosensory ev... ORPHA:52368
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Shuffling gait, Gait ataxia, Intention tremor, Macular degener... ORPHA:247234
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Abnormality of vis... ORPHA:228360
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials, Gait di... OMIM:125310
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Postural tremor, Gait disturbance, Impaired proprioception, Retinal atrophy, Hand tremor, Cogniti... ORPHA:412057
Spinocerebellar Ataxia Type 29
Delayed social development, Dysmetria, Cognitive impairment, Intention tremor, Ataxia, Dysdiadoch... ORPHA:208513
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Gait disturbance, Cerebellar atrophy, Abnormality of somatosensor... ORPHA:98755
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Coloboma Of Macula
Macular coloboma OMIM:120300
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration ORPHA:404451
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Gait disturbance ORPHA:2971
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce... OMIM:619260
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:249270
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack of peer relationships, A... ORPHA:96369
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Progressive psychomotor deterioration, Dementia, Dystonia, Chorea, Progressive gai... ORPHA:309271
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... ORPHA:52427
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Progressive psychomotor deterioration, Dystonia, Progressive gait ataxia, Intentio... ORPHA:309263
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Dystonia, Retinal degeneration, Neurodegeneration... ORPHA:391428
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Alg6-Cdg
Ataxia, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Familial Male-Limited Precocious Puberty
Oligospermia, Attention deficit hyperactivity disorder, Male infertility ORPHA:3000
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Cognitive impairment, Bone spicule pigmentation of the ret... OMIM:615994
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma OMIM:601794
Atypical Rett Syndrome
Gait disturbance, Dystonia, Impaired pain sensation, Poor eye contact, Tremor, Loss of ability to... ORPHA:3095
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Classic Galactosemia
Postural tremor, Gait disturbance, Dystonia, Secondary amenorrhea, Gait imbalance, Decreased fert... ORPHA:79239
Pelizaeus-Merzbacher Disease
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Gait disturbance, Ataxia ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... ORPHA:320401
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Dementia, Retinal degeneration, Ataxia, Inability to walk, Emotional lability, ... ORPHA:2822
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials, Decreased sensory nerve conduction veloci... OMIM:229300
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Dementia, Gait disturbance, Retinal degeneration, Dystonia, Choreoathetosis, Brady... OMIM:234200
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Somatic sensory dysfunction OMIM:266500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Aggressive behavior, Hyperactivity ORPHA:101039
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Dystonia, Progressive gait ataxia, Emotional lability, Tip-toe gait, Abnormal soci... ORPHA:309256
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnor... OMIM:601455
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Retinal dysplasia, Aggressive behavior, Retinal detachment OMIM:310600
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular degeneration ORPHA:816
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Infantile Neuroaxonal Dystrophy
Optic atrophy, Gait disturbance, Abnormality of visual evoked potentials, Dystonia, Hyperactivity... ORPHA:35069
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, No social interaction, Impaired social interactions ORPHA:329249
Scheie Syndrome
Retinal degeneration OMIM:607016
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment ORPHA:1020
Cone-Rod Dystrophy 10
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:610283
Lamb-Shaffer Syndrome
Abnormal social behavior, Optic atrophy, Hyperactivity, Ataxia ORPHA:530983
Joubert Syndrome 6
Ataxia, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Tonne-Kalscheuer Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Tremor, Broad-based gait, Anxiety OMIM:300978
Senior-Loken Syndrome 9
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:616629
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension, Ataxia, Abnormal... OMIM:231550
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus OMIM:239000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Abnormality of visual evoked potentials, Loss of ambulation, Decreased nerve co... ORPHA:206443
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Waddling gait, Difficulty walking ORPHA:280763
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Cerebral atrophy, Unsteady gait... ORPHA:1947
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Poor eye contact ORPHA:542306
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Multiple Sulfatase Deficiency
Ataxia, Retinal degeneration, Rapid neurologic deterioration OMIM:272200
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Dystonic gait ORPHA:480898
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Dysmetria, Macular degeneration, Ataxia, Dysdiadochokinesis, Mental d... ORPHA:94147
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Abnormality of visual evok... ORPHA:485421
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Retinal degeneration, Cerebral cortical atrophy,... ORPHA:166035
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Dystonia, Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Werner Syndrome
Retinal degeneration OMIM:277700
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... OMIM:120330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Cri-Du-Chat Syndrome
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivi... OMIM:123450
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Attention deficit hypera... ORPHA:449291
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Retinal degeneration, Gait imbalance, Retinal dystrophy, Hyperautofluoresc... OMIM:209900
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... ORPHA:314647
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Dementia, Retinal degeneration, Ataxia, Macular coloboma, Abnormality of macular p... ORPHA:79282
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy, Iris coloboma OMIM:616364
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Retinal degeneration, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Cere... OMIM:248500
Niemann-Pick Disease Type C
Gait disturbance, Dementia, Dystonia, Axial dystonia, Chorea, Aggressive behavior, Cognitive impa... ORPHA:646
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Mucopolysaccharidosis Type 3
Optic atrophy, Dementia, Gait disturbance, Retinal degeneration, Loss of ambulation, Aggressive b... ORPHA:581
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Gait... ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Aggressive behavior, Gait ataxia, Retinal degeneration OMIM:618479
Cockayne Syndrome Type 3
Optic disc pallor, Retinal degeneration, Retinal dystrophy, Cognitive impairment, Progressive neu... ORPHA:90324
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Co... ORPHA:580
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Trichothiodystrophy
Retinal degeneration, Impaired social reciprocity, Intention tremor, Macular degeneration, Gait a... ORPHA:33364
Pseudoxanthoma Elasticum
Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina... OMIM:264800
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder ORPHA:64280
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Hurler Syndrome
Retinal degeneration, Progressive neurologic deterioration OMIM:607014
Nephronophthisis 11
Retinal degeneration OMIM:613550
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy OMIM:250410
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Aggressive behavior, Ataxia ORPHA:369891
48,Xxxy Syndrome
Tremor, Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Anxiety... ORPHA:96263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... ORPHA:85167
Dihydropyrimidine Dehydrogenase Deficiency
Macular hypoplasia, Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressiv... ORPHA:1675
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy OMIM:601777
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance OMIM:619293
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal degeneration, Retinal dysplasia, Enlarged flash visual evoked potentials, ... OMIM:253280
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Metachromatic Leukodystrophy
Gait disturbance, Dystonia, Abnormality of visual evoked potentials, Decreased nerve conduction v... ORPHA:512
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Luscan-Lumish Syndrome
Aggressive behavior, Anxiety, Shyness OMIM:616831
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Brain atrophy, Abnormality of visual evoked potentials OMIM:614457
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Abnormality of visual evoked poten... ORPHA:206436
47,Xyy Syndrome
Oligospermia, Azoospermia, Hyperactivity, Male infertility, Attention deficit hyperactivity disorder ORPHA:8
Fg Syndrome Type 1
Abnormal social behavior, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Broad... ORPHA:93932
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked ... ORPHA:909
Kniest Dysplasia
Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det... ORPHA:485
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Diffuse cerebellar atrophy, Retina... ORPHA:71505
Xq21 Microdeletion Syndrome
Optic atrophy, Choroideremia, Gait ataxia, Chorioretinal degeneration, Ataxia, Dysdiadochokinesis... ORPHA:1435
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
49,Xxxxy Syndrome
Shyness, Tremor, Irritability, Low frustration tolerance, Overfriendliness, Attention deficit hyp... ORPHA:96264
Cockayne Syndrome A
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Abnormality of visual evoke... OMIM:216400
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Chorioretinal hypopigmentation, Reti... ORPHA:805
Bohring-Opitz Syndrome
Optic atrophy, Inability to walk, Happy demeanor, Retinal atrophy ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Retinal atrophy OMIM:236670
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Attention deficit hyperactivity disorder, Abnormal social behavior,... ORPHA:177907
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Abnormality of visual evoked potentials, Neuronal loss in central nervous sys... OMIM:203700
Knobloch Syndrome
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration ORPHA:1571
Non-Specific Syndromic Intellectual Disability
Impaired tandem gait, Papilledema, Panic attack, Attention deficit hyperactivity disorder, Retina... ORPHA:528084
Mogs-Cdg
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory respo... ORPHA:79330
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Shyness, Self-mutilation, Aggressive behavior ORPHA:293948
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Farber Disease
Brain atrophy, Cherry red spot of the macula, Macular degeneration ORPHA:333
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decr... OMIM:133540
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Mend Syndrome
Abnormal social behavior, Hyperactivity, Aggressive behavior ORPHA:401973
Say-Barber-Miller Syndrome
Optic atrophy, Lingual dystonia, Rod-cone dystrophy, Macular degeneration ORPHA:3132
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology ORPHA:2785
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal soci... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal soci... ORPHA:363958
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Alport Syndrome
Retinal flecks, Macular degeneration ORPHA:63
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials, Tremor ORPHA:667
Williams Syndrome
Gait disturbance, Retinal arteriolar tortuosity, Gait imbalance, Dysmetria, Tremor, Ataxia, Overf... ORPHA:904
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Shyness, Aggressive behavior, Intention tremor, Ataxia, Anxiety ORPHA:466791
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior OMIM:618357
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Streak ovary, Azoospermia ORPHA:1772
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Alström Syndrome
Optic disc pallor, Drusen, Retinal dystrophy, Cognitive impairment, Retinal pigment epithelial at... ORPHA:64
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Hypogonadism, Male infertility OMIM:163950

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.

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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

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