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Gene: Mdm1 MGI:96951

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Gene Summary

Name:
transformed mouse 3T3 cell double minute 1
Synonyms:
Mdm-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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Whole Body Dorso Ventral

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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
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold 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
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy 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
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
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
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Nephronophthisis 15
Retinal degeneration OMIM:614845
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Nephronophthisis 14
Retinal degeneration OMIM:614844
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Tibial Hemimelia
Absent tibia OMIM:275220
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Congenital Glaucoma
Retinal detachment ORPHA:98976
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Scheie Syndrome
Retinal degeneration OMIM:607016
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy ORPHA:370968
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Aceruloplasminemia
Retinal degeneration OMIM:604290
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
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
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Facial palsy OMIM:613156
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Retinal d... ORPHA:166035
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen... ORPHA:88628
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... OMIM:601152
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... ORPHA:356961
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:245200
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Shox-Related Short Stature
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Nephronophthisis 11
Retinal degeneration OMIM:613550
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... ORPHA:485421
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Optic atrophy OMIM:601338
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Werner Syndrome
Retinal degeneration OMIM:277700
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Vitiligo ORPHA:480898
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Optic atrophy, Abnormal nerve conduction velocity, Abnor... ORPHA:98755
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... OMIM:253280
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... ORPHA:96334
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... ORPHA:247234
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... ORPHA:3035
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... OMIM:216400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... ORPHA:79282
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne... ORPHA:79430
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin OMIM:234200
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
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... ORPHA:466768
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Pigmentary retinopathy OMIM:214100
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... ORPHA:309271
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... ORPHA:167
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy ORPHA:505248
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Gaucher Disease, Type I
Macular atrophy, Hyperpigmentation of the skin OMIM:230800
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Abnormal... OMIM:133540
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614866
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Fair hair, Optic at... ORPHA:79330
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Retinal degeneration ORPHA:33364
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... ORPHA:90324
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Decre... ORPHA:191
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217093
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... OMIM:219800
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... ORPHA:79474
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin ORPHA:699
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl... OMIM:266920
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... OMIM:300373
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells. Cell death & disease (September 2022) Mdm1em1(IMPC)Kmpc PMC9519634

Order Mouse and ES Cells

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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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