Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
Synonyms:
Semab,  SemB

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sema4a mutations

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

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

The table below shows human diseases associated to Sema4a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sema4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Immunodeficiency 18
Lymphopenia, Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Recurr... OMIM:615615
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Lymphopenia, Decreased specific ... OMIM:615897
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration OMIM:204200
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Nephronophthisis 14
Retinal degeneration OMIM:614844
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus OMIM:606952
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Abnormality of visual evoked potentials, Hypoplasia of... ORPHA:352731
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration ORPHA:1573
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... OMIM:619165
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... ORPHA:277
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Scheie Syndrome
Retinal degeneration OMIM:607016
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentials, Hypopigme... ORPHA:79431
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Aceruloplasminemia
Retinal degeneration OMIM:604290
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation... 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
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... ORPHA:79433
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:572
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Nephritis,... OMIM:603909
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally low T cell recept... OMIM:242700
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... ORPHA:88628
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Nephronophthisis 11
Retinal degeneration OMIM:613550
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased motor nerve ... OMIM:601152
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy OMIM:610651
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Decreased nerve conduction velocity OMIM:245200
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Achalasia-Addisonianism-Alacrima Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality of visual evok... OMIM:231550
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... OMIM:264800
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Infectious... OMIM:209920
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Werner Syndrome
Retinal degeneration OMIM:277700
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Vitiligo ORPHA:480898
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Undetectable visual evoked potentials, Optic disc pallor, Aplasia/Hypoplasia o... ORPHA:423479
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Mohr-Tranebjaerg Syndrome
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abno... ORPHA:52368
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration OMIM:177850
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... OMIM:229300
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... ORPHA:485421
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of visual evoked potential... ORPHA:35069
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration, Pigmentary retinopathy OMIM:234200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Cancer-Associated Retinopathy
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... ORPHA:71505
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Macular degenera... ORPHA:247234
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal degeneration, Optic at... OMIM:253280
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentials, Hypopigme... ORPHA:79430
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Chorioretin... ORPHA:193
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Knobloch Syndrome
Vitreoretinopathy, Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration ORPHA:1571
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... ORPHA:206436
Immunodeficiency 58
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Decre... OMIM:618131
Aicardi Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Gaucher Disease, Type I
Hyperpigmentation of the skin, Macular atrophy OMIM:230800
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Hurler Syndrome
Retinal degeneration OMIM:607014
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Retinoblastoma
Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Heterochromia iridis, R... ORPHA:790
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... ORPHA:83471
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Macular degeneration, Cone/cone-rod dystrophy ORPHA:94147
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Trichothiodystrophy
Retinal degeneration, Macular degeneration, Numerous pigmented freckles ORPHA:33364
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Cockayne Syndrome A
Decreased nerve conduction velocity, Retinal pigment epithelial mottling, Abnormality of visual e... OMIM:216400
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cockayne Syndrome Type 3
Retinal degeneration, Retinal hemorrhage, Retinal dystrophy, Optic disc pallor, Retinal atrophy, ... ORPHA:90324
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degeneration, Decreased ... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Retinal dysplasia OMIM:236670
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Optic atrophy... ORPHA:90321
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... ORPHA:2526
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:581
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... OMIM:618213
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... ORPHA:167
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Retinal arteriolar constriction, Decre... ORPHA:191
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, In... OMIM:614576
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnorm... ORPHA:466768
Metachromatic Leukodystrophy, Adult Form