Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serologically defined colon cancer antigen 8
Synonyms:
CCCAP,  5730470G24Rik,  2700048G21Rik

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 Sdccag8 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 Sdccag8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sdccag8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease, Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal cyst, Renal agenesis, Reduced visual acuity, Renal dysplasia, Retinal ... OMIM:615993
Nephronophthisis 9
Polyuria, Nephronophthisis, Renal cortical microcysts, Retinal degeneration, Stage 5 chronic kidn... OMIM:613824
Bardet-Biedl Syndrome 10
Renal cyst, Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency OMIM:615987
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Retinal degeneration, Renal... OMIM:613550
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V... ORPHA:59181
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Morm Syndrome
Abnormality of the kidney, Retinal dystrophy, Progressive night blindness, Retinal atrophy, Micro... ORPHA:75858
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Visual loss, Foveal photoreceptor outer segment loss on macu... ORPHA:75377
Nephronophthisis 15
Retinal degeneration, Nephronophthisis, Blindness OMIM:614845
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Increased OCT-measured foveal thickness, ... ORPHA:85128
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Central scotoma, Dyschromatopsia, Reduced visual ... OMIM:608051
Macular Dystrophy, Retinal, 1, North Carolina Type
Macular dystrophy, Drusen, Central scotoma, Dyschromatopsia, Abnormality of macular pigmentation,... OMIM:136550
Late-Onset Retinal Degeneration
Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma... OMIM:605670
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr... OMIM:603649
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal thinning, Constriction of peripheral visual field, Col... ORPHA:41751
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Visual loss, Enuresis, Congenital blindness, Stage 5 chronic kidney d... OMIM:606995
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Stargardt Disease 3
Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment OMIM:600110
Retinitis Pigmentosa 42
Cystoid macular edema, Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperauto... OMIM:612943
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:616544
Macular Degeneration, Age-Related, 13
Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss OMIM:615439
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Bardet-Biedl Syndrome 21
Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent macular lesion, R... OMIM:617406
Retinitis Pigmentosa 27
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripapillary c... OMIM:613750
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Ventric... OMIM:607432
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndactyly, Ventriculomegaly OMIM:615938
Oculorenocerebellar Syndrome
Retinal degeneration, Nephropathy, Glomerular sclerosis OMIM:257970
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener... OMIM:600138
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho... ORPHA:1243
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Retinal detachment, Progressive visual loss, Retinal atrophy, Retinoschisis, Perip... OMIM:312700
Hanac Syndrome
Hematuria, Retinal vascular tortuosity, Multiple renal cysts, Renal insufficiency ORPHA:73229
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene... OMIM:180020
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney, Retinopathy, Obesity, Hypogonadism OMIM:615988
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Reduced visual acuity, Blind... OMIM:601553
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Blindness, Retinopat... OMIM:180210
Leber Congenital Amaurosis 19
Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Macular Degeneration, Early-Onset
Macular degeneration, Reduced visual acuity, Choroidal neovascularization OMIM:616118
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:1084
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photophobia, Photoreceptor layer loss on macular OCT, Pi... OMIM:609913
Macular Dystrophy, Patterned, 2
Reduced visual acuity, Pattern dystrophy of the retina, Drusen, Foveal hyperpigmentation OMIM:608970
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis, Rod-cone dystrophy OMIM:609254
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Photophobia, Macular degeneration, Macular drusen, Cone/cone-rod dy... OMIM:620342
Arima Syndrome
Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Retinal dystrophy, Tubulointe... OMIM:243910
Choroideremia
Granular macular appearance, Constriction of peripheral visual field, Bone spicule pigmentation o... OMIM:303100
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Attenuation of retinal blood... OMIM:613731
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Optic Atrophy 9
Optic atrophy, Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impa... OMIM:616289
Cone-Rod Dystrophy 22
Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ... OMIM:619531
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse... OMIM:615922
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Visual loss, Cerebellar atrophy, Blindness, Retinopathy, Neurode... OMIM:610951
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Visual field defect, Retinal pigment ep... OMIM:609923
Macular Dystrophy, Vitelliform, 5
Macular dystrophy, Central scotoma, Reduced visual acuity, Vitelliform-like macular lesions, Mode... OMIM:616152
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive visual loss OMIM:601780
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment OMIM:258500
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 14
Polydactyly, Rod-cone dystrophy, Renal insufficiency, Obesity OMIM:615991
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Par... OMIM:609021
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Leber Congenital Amaurosis 1
Hepatomegaly, Photophobia, Optic disc drusen, Blindness, Fundus atrophy, Attenuation of retinal b... OMIM:204000
Achromatopsia
Color vision defect, Color vision test abnormality, Inner retinal layer loss on macular OCT, Phot... ORPHA:49382
Sorsby Fundus Dystrophy
Macular dystrophy, Chorioretinal atrophy, Blindness OMIM:136900
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Obesity, Syndactyly, Micropenis, Brachydactyly, Hypogonadism, Rod... OMIM:615983
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Progressive visual loss, Attenuation of retinal blood ve... OMIM:617781
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Rod-cone dystrophy, Blindness OMIM:612165
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda... ORPHA:294975
Macular Dystrophy, Patterned, 1
Dark choroid, Pattern dystrophy of the retina, Macular dystrophy, Choroidal neovascularization, Y... OMIM:169150
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Leber Congenital Amaurosis With Early-Onset Deafness
Photophobia, Peripapillary atrophy, Reduced visual acuity, Retinal degeneration, High hypermetrop... OMIM:617879
Cone-Rod Dystrophy 5
Color vision defect, Photophobia, Central scotoma, Macular degeneration, Cone/cone-rod dystrophy,... OMIM:600977
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Ven... ORPHA:1083
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu... OMIM:615725
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Progressive visual loss, Macular degeneration, Increased neurona... OMIM:204200
Persistent Placoid Maculopathy
Choroidal neovascularization, Metamorphopsia, Hypoplasia of the fovea, Reduced visual acuity, Sci... ORPHA:97341
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment, Reduced visual acuity, Abnormal retinal vascu... ORPHA:90050
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,... ORPHA:3156
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti... OMIM:304020
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a... OMIM:608194
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Ventriculomeg... OMIM:604213
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:618144
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Newfoundland Rod-Cone Dystrophy
Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central... OMIM:607476
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Retinal coloboma, C... OMIM:610188
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retina... OMIM:204500
Wagner Vitreoretinopathy
Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr... OMIM:143200
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Color vision defect, Drusen, Choroidal neovascularization, Photophobia, Metamo... OMIM:608161
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Reduced visual ... OMIM:604393
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Visual impairment,... OMIM:610359
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Photophobia, Progressive visual loss, Cone/cone-rod dyst... OMIM:614500
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Lissencephaly 3
Ventriculomegaly, Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus... OMIM:611603
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 51
Abnormality of the kidney, Bone spicule pigmentation of the retina, Photophobia, High myopia, Mac... OMIM:613464
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Retinal dystrophy, Tubulointerstitial fibrosis, Impaired renal concen... OMIM:266900
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Renal hypoplasia, Rod-cone dystrophy, Visual impairment, Nyctalopia OMIM:600151
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:601718
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c... OMIM:219730
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Cerebral atrophy, Renal cortical cysts, Death in infancy, Failure to thrive OMIM:609180
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels, Reduced visual acuity OMIM:165510
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Amblyopia, Stage 5 chronic kidney disease, Rod-cone dystrophy, Severe... OMIM:606996
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease... OMIM:618161
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy... OMIM:551500
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Retinitis Pigmentosa 76
Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin... OMIM:617123
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Retinal dystrophy, Retinopathy, Micropenis OMIM:614464
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment, Nyctalopia OMIM:613758
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, High hypermetropia OMIM:251700
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular... OMIM:619007
Senior-Boichis Syndrome
Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Renal hypopla... ORPHA:84081
Stargardt Disease
Retinal thinning, Color vision defect, Central scotoma, Abnormality of macular pigmentation, Macu... ORPHA:827
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Reduced visual acuity, Retinal dystrophy, Nyctalopia OMIM:610156
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:612712
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Severely reduced visual acuity, Blindness OMIM:309555
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Retinal degeneration, Micropenis, Pigmentary retinopathy ORPHA:3363
Cone-Rod Dystrophy 11
Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c... OMIM:610381
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Congenital stationary night blindness, Reduced visual acuity, Abnormal fundus morphology, Moderat... OMIM:163500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Hypermetropia, Retinal deg... OMIM:267760
Leber Congenital Amaurosis 2
Photophobia, Blindness, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Retinitis Pigmentosa 81
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617871
Mpdu1-Cdg
Optic atrophy, Renal cortical cysts ORPHA:79323
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Hepatomegaly, Renal insufficiency, Cystoid macular edema... OMIM:613861
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Hypoplasia of penis OMIM:275400
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinitis Pigmentosa 38
Constriction of peripheral visual field, Progressive visual loss, Peripheral retinal atrophy, Rod... OMIM:613862
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal... OMIM:613660
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Myopia, Progressive visual loss, Visu... ORPHA:180
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Adult-onset night blindness, Chorioretinal atrophy, Atte... OMIM:608133
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Retinitis Pigmentosa 1
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Scotoma, Attenu... OMIM:180100
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
Central retinal vessel vascular tortuosity, Retinal telangiectasia, Central scotoma, Reduced visu... OMIM:619382
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Odontochondrodysplasia 1
Mesomelic short stature, Nephronophthisis, Irregular epiphyses, Small epiphyses, Cone-shaped epip... OMIM:184260
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, ... OMIM:153840
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa 35
Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy... OMIM:614180
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Photophobia, Foveoschisis, Cystoid macular edema, Optic ... OMIM:611040
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig... OMIM:256730
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cone-Rod Dystrophy 12
Color vision defect, Central scotoma, Bull's eye maculopathy, Cone/cone-rod dystrophy, Reduced vi... OMIM:612657
Congenital Stationary Night Blindness
Retinal thinning, Color vision defect, Hypermetropia, Congenital stationary night blindness with ... ORPHA:215
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:120970
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Visual field defect, Reduced visual acuity, Optic disc pallor, ... OMIM:617433
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Hypermetropia, Reduced visual acuity, Retinal pigment epithelial atrophy OMIM:611809
Familial Drusen
Granular macular appearance, Macular dystrophy, Visual loss, Peripapillary chorioretinal atrophy,... ORPHA:75376
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vesse... OMIM:615990
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Color vision defect, Reduced visual acuity, Optic disc pallor OMIM:618511
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos... OMIM:600059
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, At... OMIM:617460
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Death in childhood, Cubitus valgus, Hepatomegaly, Talipes equinovarus, Pol... OMIM:214110
Maternal Hyperthermia-Induced Birth Defects
Bilateral single transverse palmar creases, Abnormality of neuronal migration, Cleft palate, Clin... ORPHA:2216
Retinitis Pigmentosa 9
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular edema, ... OMIM:180104
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
C Syndrome
Radial deviation of finger, Hepatomegaly, Renal cortical cysts, Dislocated radial head, Postaxial... OMIM:211750
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Perifoveal hypoautofluorescence, Reduced visual acuity, ... OMIM:615780
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Gyrate Atrophy Of Choroid And Retina
Constriction of peripheral visual field, Chorioretinal hyperpigmentation, Chorioretinal degenerat... ORPHA:414
Cone-Rod Dystrophy 21
Photophobia, Retinal dystrophy, Reduced visual acuity, Macular atrophy, Nyctalopia OMIM:616502
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ... OMIM:613194
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Retinal dystrophy, Early ossification of capital femoral ... ORPHA:397715
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Rhyns Syndrome
Nephronophthisis, Rod-cone dystrophy, Multicystic kidney dysplasia ORPHA:140976
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Retinitis Pigmentosa 2
Constriction of peripheral visual field, Chorioretinal degeneration, Central scotoma, High myopia... OMIM:312600
Bardet-Biedl Syndrome 17
Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Micropeni... OMIM:615994
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Photophobia, Rod-cone dystrophy, Ny... OMIM:600852
Achromatopsia 7
Achromatopsia, Photophobia, Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Abse... OMIM:616517
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Hypospadias, Short stature, Obesity, Hypogonadism, Hypogon... ORPHA:141333
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Agenesis of... OMIM:600348
Retinal Capillary Malformation
Retinal exudate, Progressive visual loss, Retinal capillary hemangioma, Vitreous floaters, Photop... ORPHA:71213
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Retinitis Pigmentosa 63
Nyctalopia, Rod-cone dystrophy, Optic disc pallor, Blurred vision OMIM:614494
Retinitis Pigmentosa 20
Attenuation of retinal blood vessels, Rod-cone dystrophy, Severely reduced visual acuity, Visual ... OMIM:613794
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Retinal dystrophy, Central scotoma, Reduced visual acuity, Optic disc pallor, Nyctal... OMIM:616079
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Abnormality of neuronal migration OMIM:618709
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy, Nyctalopia OMIM:607475
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Cone Rod Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment, Nyctalopia ORPHA:1872
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Abnormal autonomic nervous system physiology, Hydronephrosis, Blindness OMIM:598500
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom... ORPHA:54370
Cone Dystrophy 3
Photophobia, Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atr... OMIM:602093
Bardet-Biedl Syndrome 6
Renal cyst, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy OMIM:605231
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Urinary incontinence, Genu valgum, Sandal gap, Single transverse palmar cre... OMIM:617927
Lissencephaly 4
Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:614019
Jeune Syndrome
Abnormal metaphysis morphology, Nephronophthisis, Nephropathy, Postaxial hand polydactyly, Abnorm... ORPHA:474
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Short palm, Wide mouth, Lateral ventricle dilatation OMIM:300982
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, Progressive visual fiel... OMIM:601414
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Color vision defect, Perifoveal hypoautofluorescence, Bo... OMIM:300029
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Senior-Loken Syndrome 8
Nephronophthisis, Retinal dystrophy, Pancreatic cysts, Glomerular subepithelial immune-complex de... OMIM:616307
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Death in childhood, Cubitus valgus, Hypospadias, Talipes equinovarus, Epiphys... OMIM:214100
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Retinal Cone Dystrophy 3B
Scotoma, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Macular atrophy, Ny... OMIM:610356
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Ab... ORPHA:1988
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Macular degeneration, Urinary urgency, Urinary bladder sphincter dysfunctio... OMIM:604360
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:300067
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Visual acuity no light perception, Att... OMIM:618220
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Reduced OCT-measured foveal thickness, Choroidal neovascularization, Nycta... OMIM:619977
Leber Congenital Amaurosis 14
Photophobia, Retinal dystrophy, Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, ... OMIM:613341
Cednik Syndrome
Optic atrophy, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Short stature, Proteinuri... ORPHA:66631
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:611773
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia OMIM:618677
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Postaxial hand polydactyly ORPHA:945
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Reduced visual acuity, Optic disc pallor OMIM:165300
Papillorenal Syndrome
Reduced visual acuity, Stage 5 chronic kidney disease, Renal malrotation, High myopia, Macular de... OMIM:120330
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:606068
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a... OMIM:615147
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular... OMIM:613582
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Reduced visual acuity, Vis... OMIM:258501
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Short sta... OMIM:611555
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar vermis atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria, Clinodactyly of the 5th finger ORPHA:2820
Lissencephaly 6 With Microcephaly
Widely spaced teeth, Polymicrogyria, Microlissencephaly, Single transverse palmar crease, Tapered... OMIM:616212
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Dyschromatopsia, ... ORPHA:251004
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Death in adolescence, Death in infancy, Renal cortical microcysts, Splenomega... OMIM:614866
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Severely reduced visual acuity, Opti... OMIM:614296
Bardet-Biedl Syndrome 19
Renal insufficiency, Y-shaped metacarpals, Cone/cone-rod dystrophy, Renal hypoplasia, Postaxial p... OMIM:615996
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Reduced visual acuity, Visual impairment OMIM:616335
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma, Visual impa... OMIM:619614
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Talipes equino... OMIM:613885
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Usher Syndrome, Type Iiia
Visual field defect, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:276902
Mosaic Trisomy 1
Rocker bottom foot, Deviation of the 5th toe, Renal cortical cysts, Broad 2nd toe, Single transve... ORPHA:1692
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Optic disc pallor, Hepatomegaly OMIM:613730
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Senior-Loken Syndrome 9
Nephronophthisis, Retinal dystrophy, Macular degeneration, Stage 5 chronic kidney disease, Rod-co... OMIM:616629
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Joubert Syndrome 6
Nephronophthisis, Chorioretinal coloboma, Retinal degeneration, Stage 5 chronic kidney disease, B... OMIM:610688
Leber Congenital Amaurosis 16
Photophobia, Optic disc pallor, Visual field defect, Reduced visual acuity, Visual impairment, Ny... OMIM:614186
Bardet-Biedl Syndrome 9
Polydactyly, Bone spicule pigmentation of the retina, Irregular menstruation, Truncal obesity, Re... OMIM:615986
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Macular degeneration, Urinary urgency, Urinary bladder sphincter dysfunctio... OMIM:270700
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Retinal neovascularization, Macular degeneration,... ORPHA:411527
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Temporal optic disc pallor, Mildly reduced vis... OMIM:620629
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Reduced visual acuity, Nyctalopia OMIM:611543
Cone Dystrophy 4
Photophobia, Dyschromatopsia, Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal refle... OMIM:613093
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Mizuo phenomenon, Myopia, Rod-cone d... ORPHA:75382
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Narp Syndrome
Constriction of peripheral visual field, Corticospinal tract atrophy, Blindness, Cerebral cortica... ORPHA:644
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Reduced visual acuity, Exudative vitreoretinopath... OMIM:613310
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Arcuate scotoma, Visual loss, Choroidal neov... ORPHA:179
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti... ORPHA:284454
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria, Epiphyseal stippling OMIM:614870
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:600105
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow... OMIM:614091
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Splenomegaly, Chronic kidney disease, Retinal degeneration, Nycta... OMIM:615630
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular... OMIM:617304
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig... OMIM:300476
Tritanopia
Tritanomaly, Color vision test abnormality, Photophobia, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Usher Syndrome, Type Iid
Rod-cone dystrophy, Nyctalopia OMIM:611383
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Abnormality of neuronal migration ORPHA:1980
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Overlapping toe, Periventricular nodular heterotopia OMIM:618572
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Agenesis of corpus callosum, Ventriculom... OMIM:614120
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Chorioretinal atrophy, Short stature, Obesity, Micropenis, ... OMIM:245800
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal ... OMIM:607323
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Usher Syndrome, Type 1M
Nyctalopia, Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Death in childhood, Hepatomegaly, Brain atrophy, Clubbing, Focal ... OMIM:617303
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Central scotoma, High myopia, Red-green dyschromatopsia, Bull's eye maculopath... OMIM:616170
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Nyctalopia, Abnormality of fundus pi... OMIM:268000
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Myopia, Macular atrophy, Visual impairment, Chorioretinal dystrophy ORPHA:75373
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Rod-cone dystrophy, Pigmenta... OMIM:312612
Severe Canavan Disease
Optic atrophy, Elevated urine N-acetylaspartic acid level, Blindness ORPHA:314911
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore... OMIM:601813
Joubert Syndrome 17
Preaxial polydactyly, Abnormal renal morphology, Postaxial polydactyly, Abnormal retinal morpholo... OMIM:614615
Joubert Syndrome 39
Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney dysplasia, Postaxial po... OMIM:619562
C3 Glomerulopathy
Acute kidney injury, Hematuria, Drusen, Central serous chorioretinopathy, Yellow/white lesions of... ORPHA:329918
Optic Atrophy 12
Optic atrophy, Photophobia, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test,... OMIM:618977
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Fleck Retina, Familial Benign
Retinal flecks, Visual impairment, Nyctalopia OMIM:228980
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ... OMIM:605750
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:266500
Prolonged Electroretinal Response Suppression 2
Abnormal fundus morphology, Photophobia, Mildly reduced visual acuity, Difficulty adjusting to ch... OMIM:620344
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Photophobia, Central scotoma, Cystoid macular edema, Progress... ORPHA:52427
Jalili Syndrome
Bone spicule pigmentation of the retina, Scotoma, Photophobia, Monochromacy, Cone/cone-rod dystro... OMIM:217080
Fundus Albipunctatus
Fundus albipunctatus, Retinal flecks, Nyctalopia OMIM:136880
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Hepatomegaly, Rhizomelia, Broad long bon... OMIM:614376
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling OMIM:614859
Blue Cone Monochromacy
Photophobia, Abnormality of macular pigmentation, Reduced visual acuity, Blue cone monochromacy, ... OMIM:303700
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Blindness,... OMIM:133780
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology, Adducted thumb ORPHA:324422
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Sandhoff Disease
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Blindness ORPHA:796
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:620102
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Retinitis Pigmentosa 96
Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin... OMIM:620228
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A... ORPHA:436274
Optic Atrophy 15
Optic atrophy, Photophobia, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc p... OMIM:620583
Severe Early-Childhood-Onset Retinal Dystrophy
Color vision defect, Bone spicule pigmentation of the retina, Optic disc drusen, Rhegmatogenous r... ORPHA:364055
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, High myopia, Peripheral vitreoretinal degeneration, Vitreous floaters, Mildly... OMIM:614292
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst, Retinal dystrophy OMIM:611560
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce... OMIM:608850
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Proteinuria, Renal insufficiency ORPHA:2613
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re... OMIM:618176
Retinal Cone Dystrophy 4
Constriction of peripheral visual field, Photophobia, Cone/cone-rod dystrophy, Reduced visual acu... OMIM:610478
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ... OMIM:236500
Cone-Rod Dystrophy 8
Photophobia, Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Peri... OMIM:605549
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Tritanomaly, Bone spicule pigmentation of the retina, Ce... OMIM:615973
Irvan Syndrome
Optic atrophy, Retinal exudate, Photophobia, Retinal detachment, Vitreous floaters, Tractional re... ORPHA:209943
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Geographic atro... OMIM:180105
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Mismatch Repair Cancer Syndrome 4
Colon cancer, Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis OMIM:619101
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Photopsia, Vitreo... ORPHA:40923
Bardet-Biedl Syndrome 8
Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism, Renal dysplasia, Rod-cone dystrophy OMIM:615985
Sarcosinemia
Optic atrophy, Congenital blindness, Hypersarcosinuria ORPHA:3129
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Peripheral visual field loss, Retinal degeneration, Rod-cone dystrophy, Horseshoe kid... OMIM:250410
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... OMIM:249710
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Visual loss, Diffuse cerebral a... ORPHA:391428
Galloway-Mowat Syndrome 2, X-Linked
Cerebral atrophy, Minimal change glomerulonephritis, Cerebellar atrophy, Focal segmental glomerul... OMIM:301006
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Peripheral... OMIM:612095
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Visual loss, Cone/cone-rod dystrophy, Retinal degeneration, Aminoaciduria OMIM:249270
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Hepatomegaly, Polycystic kidney dysplasia, Cerebellar atr... OMIM:608776
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly OMIM:615984
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Cerebral cortical atrophy, Visual field defect, Retinal degeneration, Rod-cone dystro... ORPHA:166035
Idiopathic Uveal Effusion Syndrome
Visual field defect, Reduced visual acuity, Exudative retinal detachment, Subretinal fluid, Blurr... ORPHA:209956
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Dyschromatopsia, Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage, My... OMIM:264420
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Partial dupli... OMIM:617926
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Aganglionic megacolon, Retinal dystrophy, Vesicoureteral reflux, Renal... ORPHA:261222
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, High myopia, Reduced visual acuity, Retinal perforation, N... OMIM:615058
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Amblyopia, Retinal pigment epithelial mottling, Reduced visual ac... OMIM:300814
Retinal Cone Dystrophy 3A
Photophobia, Cone dystrophy, High myopia, Dyschromatopsia, Reduced visual acuity, Nyctalopia OMIM:610024
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Mucolipidosis Iv
Optic atrophy, Photophobia, Cerebellar atrophy, Retinal degeneration, Visual impairment OMIM:252650
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Chorioretinal atrophy, Choro... OMIM:303110
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Atte... OMIM:613617
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Oral synechia, Radial deviation of the 2nd finger, ... ORPHA:1388
Late-Onset Retinal Degeneration
Tritanomaly, Drusen, Choroidal neovascularization, Visual loss, Patchy atrophy of the retinal pig... ORPHA:67042
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly, Talipes equinovarus OMIM:616570
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Ventriculomegaly, Thin upper li... ORPHA:2512
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Renal cyst, Death in infancy,... OMIM:613390
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos... OMIM:618173
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripheral visu... OMIM:613983
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Cerebellar vermis atrophy, Cerebellar atrophy, Decreased body wei... OMIM:618347
Aase-Smith Syndrome
Abnormal hip bone morphology, Dandy-Walker malformation, Slender finger, Camptodactyly of finger,... ORPHA:916
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Retinal detachment, Proteinuria, Renal insufficiency ORPHA:375
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Gyrate Atrophy Of Choroid And Retina
Chorioretinal atrophy, Macular thickening, Visual impairment, Foveoschisis, Myopia, Blindness, Ny... OMIM:258870
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia, Hydrocephalus ORPHA:352682
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, Single transverse palmar crease,... OMIM:617866
Trisomy 17P
Clinodactyly of the 5th finger, Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney ... ORPHA:261290
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati... OMIM:300424
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Hepatomegaly, Decreased glomerular filtration rate, Tubuloin... ORPHA:85450
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Cerebellar atrophy, Cerebral cortical a... ORPHA:254913
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Central scotoma... OMIM:615233
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Cerebral cortical atrophy, Visual loss OMIM:300438
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Reduced visual acuity, ... OMIM:616732
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Hepatosplenomegaly OMIM:232500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Retinitis Pigmentosa 37
Cystoid macular degeneration, Constriction of peripheral visual field, Tritanomaly, Photophobia, ... OMIM:611131
Leber Congenital Amaurosis 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral... OMIM:613843
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Obesity, Nephrocalcinosis, Brachydactyly, Rod-cone dystrophy OMIM:615633
Vitreoretinochoroidopathy
Color vision defect, Dyschromatopsia, Retinal detachment, Abnormality of chorioretinal pigmentati... OMIM:193220
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Photophobia, Dyschromatopsia, Progressive night blindnes... OMIM:601777
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog... OMIM:617914
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Visual loss, Urinary urgency, Visual impairment, Progressive visual loss, Blindness OMIM:601338
Cach Syndrome
Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degeneration affecting the brainstem, Ce... ORPHA:135
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Abnormality of vision, Renal cyst, Chorioretinal coloboma, Multicystic kidney dysplasia, Visual i... ORPHA:2031
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Verheij Syndrome
Cerebral atrophy, Optic nerve hypoplasia, Intrauterine growth retardation, Renal cyst, Renal agen... OMIM:615583
Polyrrhinia
Orofacial cleft, Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly, Cleft palate, ... OMIM:607361
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ... OMIM:210370
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Galloway-Mowat Syndrome 8
Hematuria, Brain atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral cortic... OMIM:618349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Polymicrogyria, Syndactyly, Smooth philtrum, Ventriculomegaly OMIM:602501
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Hi... OMIM:616469
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Intrauterine g... ORPHA:314588
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Macular coloboma, Geographic atrophy, High myopia, Brain atrophy, Abnormal audi... OMIM:619260
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo... OMIM:613756
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Optic atrophy, Blindness ORPHA:216873
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,... ORPHA:791
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Hypoplastic pelvis, D... OMIM:208500
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Color vision defect, Photophobia, Macular degeneration, Macular c... OMIM:270200
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Hammertoe, Claw hand deformity, Distal upper limb amyotrophy, Focal segmental glomerulosclerosis,... OMIM:614455
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Hepatomegaly, Proximal tubulopathy, Pigmentary retinopathy, Blindness OMIM:560000
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal dystrophy, Retinal atrophy, Myopia, Amblyopia OMIM:615960
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi... OMIM:232200
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Tapered toe, Cardiomegaly, Hepatomegaly, Long-chain dicarb... OMIM:608836
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Cone-Rod Dystrophy 18
Foveal hyperpigmentation, Central scotoma, High myopia, Cone/cone-rod dystrophy, Foveal atrophy, ... OMIM:615374
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Cerebral atrophy, Reduced visual acuity OMIM:618770
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Photophobia, Macular degeneration, Peripheral visual fie... OMIM:610283
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Polycystic kidney dysplasia, Short long bone, Ulnar deviation of th... OMIM:263210
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Retinitis Pigmentosa 25
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Ch... OMIM:602772
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Progressive visual loss, Pigmentary retinopathy OMIM:164500
Canavan Disease
Optic atrophy, Brain atrophy, Elevated urine N-acetylaspartic acid level, Visual impairment, Blin... OMIM:271900
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Joubert Syndrome 30
Polymicrogyria, Dandy-Walker malformation, Postaxial hand polydactyly, Gray matter heterotopia, A... OMIM:617622
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Optic Pathway Glioma
Optic atrophy, Visual loss, Papilledema, Visual field defect, Reduced visual acuity, Blindness ORPHA:2086
Retinitis Pigmentosa 14
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Reduced visual ... OMIM:600132
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral visual impairment, Retinal vascular tortuosity OMIM:618768
Retinitis Pigmentosa 93
Retinal dots, Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity OMIM:619845
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Vacterl Association, X-Linked, With Or Without Hydrocephalus