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Gene: Mdm1 MGI:96951

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Gene Summary

Name:
MDM1 nuclear protein
Synonyms:
Mdm-1,  transformed mouse 3T3 cell double minute 1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cholesterol homeostasis Mdm1em1(IMPC)Kmpc HOM Early adult 2.03×10-05
short tibia Mdm1em1(IMPC)Kmpc HOM Early adult 4.95×10-05

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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.

X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Mdm1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mdm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
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
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Nephronophthisis 14
Retinal degeneration OMIM:614844
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Tibial Hemimelia
Absent tibia OMIM:275220
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy OMIM:600790
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta... ORPHA:816
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Waardenburg-Shah Syndrome
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... ORPHA:897
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis OMIM:268100
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Nephronophthisis 9
Retinal degeneration OMIM:613824
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Freckling, Melanocytic nevus ORPHA:1573
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Oculocutaneous Albinism Type 2
Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp... ORPHA:79432
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Retinitis Pigmentosa 23
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... OMIM:300424
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... ORPHA:5
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia... OMIM:270200
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy OMIM:605808
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T... OMIM:619649
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina ORPHA:100996
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... OMIM:615994
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Abnormal auditory evoked potentials, Attenuation of retinal... OMIM:619260
Aceruloplasminemia
Retinal degeneration OMIM:604290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Optic disc pallor OMIM:616171
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper... ORPHA:2481
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy OMIM:620422
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... ORPHA:436245
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:216866
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy OMIM:300578
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
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
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:268315
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Vici Syndrome
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:1493
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Retinal degeneration, Abnormality of pattern visual evoked potentials, Rod-con... ORPHA:166035
Scheie Syndrome
Retinal degeneration OMIM:607016
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen... ORPHA:88628
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction ORPHA:585
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... ORPHA:356961
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... OMIM:607143
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy OMIM:610651
Nephronophthisis 11
Retinal degeneration OMIM:613550
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M... ORPHA:1969
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Optic disc pallor, Pigmentary retinopathy OMIM:617282
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... ORPHA:85167
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma OMIM:602499
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Retinal dysplasia OMIM:613154
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Aceruloplasminemia
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation ORPHA:48818
Paget Disease Of Bone 5, Juvenile-Onset
Retinopathy, Macular scar, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration ORPHA:168549
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Abnormality of pattern visual evoked potentials, Orthostatic hypotension ORPHA:2822
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... OMIM:264800
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Retinal pi... OMIM:618733
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Werner Syndrome
Retinal degeneration OMIM:277700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots OMIM:214110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Senior-Loken Syndrome 8
Rod-cone dystrophy, Macular atrophy, Retinal dystrophy OMIM:616307
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor... OMIM:209900
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Cohen Syndrome
Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin... ORPHA:193
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:608940
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment ORPHA:394
Papillorenal Syndrome
Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma, Optic disc col... OMIM:120330
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Retinal degeneration... OMIM:253280
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Retinoblastoma
Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir... ORPHA:790
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio... ORPHA:247234
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Aicardi Syndrome
Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme... ORPHA:50
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor... ORPHA:2526
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
Kniest Dysplasia
Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat... ORPHA:485
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e... ORPHA:71505
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe... ORPHA:90321
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Retinal degeneration, Pigme... ORPHA:79282
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin OMIM:234200
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Hurler Syndrome
Retinal degeneration OMIM:607014
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot... OMIM:216400
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy OMIM:236670
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Abnormality of peripheral somatosensory evoked p... ORPHA:466768
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... ORPHA:580
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Pigmentary retinopathy, Brushfield spots OMIM:214100
Gaucher Disease, Type I
Macular atrophy, Hyperpigmentation of the skin OMIM:230800
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Hypopigmentation of hair, Hypopigmentation of the skin, Larg... ORPHA:167
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Cockayne Syndrome Type 3
Premature graying of hair, Retinal dystrophy, Retinal atrophy, Retinal hemorrhage, Retinal degene... ORPHA:90324
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:581
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy ORPHA:14
Trichothiodystrophy
Numerous pigmented freckles, Macular degeneration, Retinal degeneration ORPHA:33364
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro... ORPHA:2556
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Brushfield spots, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614866
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormal... OMIM:133540
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Retinal atrophy, Pigmentar... ORPHA:191
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Nijmegen Breakage Syndrome
Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo OMIM:251260
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Melas
Optic atrophy, Vitiligo, Pigmentary retinopathy ORPHA:550
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... ORPHA:217085
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Alstrom Syndrome
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:203800
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... ORPHA:217093
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Retinal vasculitis, Papi... ORPHA:91500
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Neurofibromatosis Type 1
Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis... ORPHA:636
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:404454
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Choroideremia, Reti... ORPHA:1435
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy ORPHA:97297
Say-Barber-Miller Syndrome
Optic atrophy, Macular degeneration, Rod-cone dystrophy ORPHA:3132
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial m... OMIM:219800
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology ORPHA:2785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Atypical Werner Syndrome
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Patchy hypo- and ... ORPHA:79474
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Pearson Syndrome
Cafe-au-lait spot, Pigmentary retinopathy, Hyperpigmentation of the skin ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Rod-cone dystrophy... OMIM:266920
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Proteus Syndrome
Retinal hamartoma, Irregular hyperpigmentation, Retinal nonattachment, Multiple cafe-au-lait spot... ORPHA:744
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism,... OMIM:242840
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Stickler Syndrome
Retinal detachment, Retinal hole, Lattice retinal degeneration, Abnormal vitreous humor morphology ORPHA:828
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Macular atrophy OMIM:619418
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Optic disc hypoplasia, Pigmentary retinopathy ORPHA:3455
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd... OMIM:214800
Alström Syndrome
Drusen, Retinal dystrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Optic dis... 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 Mdm1

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 Mdm1.

No publications found that use IMPC mice or data for Mdm1.

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MGI Allele Allele Type Produced
Mdm1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mdm1em1(IMPC)Kmpc Indel Mice
Mdm1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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