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
Reduced visual acuity, Rod-cone dystrophy, Visual impairment, Stage 5 chronic kidney disease OMIM:610189
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency OMIM:615987
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... OMIM:615993
Nephronophthisis 11
Retinal degeneration, Nephronophthisis, Renal tubular atrophy, Polyuria, Tubular basement membran... OMIM:613550
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Abnormality of the kidney, Renal cyst OMIM:615982
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Morm Syndrome
Micropenis, Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Progressive night blin... ORPHA:75858
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Macular atrophy, Visual imp... OMIM:603649
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Nephronophthisis 15
Blindness, Retinal degeneration, Nephronophthisis OMIM:614845
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Senior-Loken Syndrome 3
Congenital blindness, Nephronophthisis, Polyuria, Visual loss, Renal corticomedullary cysts, Enur... OMIM:606995
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen OMIM:615439
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Ventriculomegaly, Subcortical band heterotopia, P... OMIM:607432
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Retinal dystrophy, ... OMIM:243910
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... OMIM:617406
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Cerebral cortical atrophy, Renal tubular atrophy, Decreased glomerular filtration rate, Impaired ... OMIM:174000
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Retinitis Pigmentosa 48
Rod-cone dystrophy, Visual impairment, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Oculorenocerebellar Syndrome
Nephropathy, Retinal degeneration, Glomerular sclerosis OMIM:257970
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Retinopathy, Polydactyly, Hypogonadism, Obesity OMIM:615988
Hanac Syndrome
Renal insufficiency, Retinal vascular tortuosity, Hematuria, Multiple renal cysts ORPHA:73229
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy, Micropenis OMIM:610156
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... ORPHA:1243
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Enlarged sylvian cistern, Agyria, Ventriculomegaly, Pachygyria ORPHA:1084
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Senior-Loken Syndrome 5
Rod-cone dystrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... OMIM:312700
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration, Visual impairment OMIM:618513
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Abnormality of the kidney, Polydactyly, Hypogonadism, Obesity OMIM:615989
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... OMIM:180020
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Visual loss, Optic atro... OMIM:610951
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... OMIM:609021
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Micropenis, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism, Macular dys... OMIM:615983
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Leber Congenital Amaurosis 1
Photophobia, Blindness, Hepatomegaly, Nyctalopia, Reduced visual acuity, Attenuation of retinal b... OMIM:204000
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... ORPHA:294975
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Ventriculomegaly, Simplified gyral pa... ORPHA:1083
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... OMIM:604213
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Ventriculomegaly, Pachygyria, Age... OMIM:611603
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy,... ORPHA:3156
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Retinitis Pigmentosa 31
Visual field defect, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment ep... OMIM:609923
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Incr... OMIM:204500
Renal Coloboma Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Renal... ORPHA:1475
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Reduced visual ... OMIM:204200
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Talipes equinovarus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pigmentar... OMIM:614866
Neuropathy, Ataxia, And Retinitis Pigmentosa
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy... OMIM:551500
Wagner Vitreoretinopathy
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... OMIM:143200
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Retinal dystrophy, Tubulointers... OMIM:266900
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Congenital blindness, Reduced renal c... OMIM:610188
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Senior-Loken Syndrome 4
Rod-cone dystrophy, Nephronophthisis, Polyuria, Amblyopia, Stage 5 chronic kidney disease, Severe... OMIM:606996
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Macular degeneration, Mesangial hyper... ORPHA:63
Joubert Syndrome 35
Rod-cone dystrophy, Multicystic kidney dysplasia, Recurrent urinary tract infections, Single tran... OMIM:618161
Bardet-Biedl Syndrome 3
Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Renal hypoplasia, Visual impairment OMIM:600151
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Usher Syndrome, Type Iv
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... OMIM:618144
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Cleft palate, 2-3 toe syndactyly OMIM:617201
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Blindness, Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... ORPHA:84081
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Blindness, Severely reduced visual acuity OMIM:309555
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Mpdu1-Cdg
Optic atrophy, Renal cortical cysts ORPHA:79323
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... OMIM:610381
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Rhyns Syndrome
Rod-cone dystrophy, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Hypoplasia of penis, Retinal degeneration OMIM:275400
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Joubert Syndrome 20
Abnormal retinal morphology, Retinopathy, Renal cyst OMIM:614970
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Talipes equinovarus, Aminoaciduria, Joint contracture of the hand, Hepatomegal... OMIM:214110
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation ... OMIM:615990
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... OMIM:614180
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Familial Drusen
Perifoveal ring of hyperautofluorescence, Photophobia, Granular macular appearance, Abnormality o... ORPHA:75376
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
C Syndrome
Dislocated radial head, Failure to thrive, Renal cortical cysts, Hepatomegaly, Short stature, Mic... OMIM:211750
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... OMIM:616394
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Biemond Syndrome Type 2
Short stature, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty,... ORPHA:141333
Retinitis Pigmentosa
Photophobia, Blindness, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology... ORPHA:791
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Micropenis, Polyuria, Cone/cone-rod dystrophy, Renal cy... OMIM:615994
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Optic nerve dysplasia, Renal dysplasia, Renal cyst, Hydronephrosis, Blindness, Retina... OMIM:615287
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm sh... ORPHA:397715
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Aminoaciduria, Constriction of peripheral visual field, Abnormal... ORPHA:414
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Hydroureter, Optic atrophy, Hydronephrosis, Blindness OMIM:598500
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
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, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Jeune Syndrome
Abnormality of retinal pigmentation, Nephronophthisis, Short stature, Cone-shaped epiphysis, Micr... ORPHA:474
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycy... OMIM:231680
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Renal cortical cysts OMIM:617668
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... OMIM:613194
Lissencephaly 4
Simplified gyral pattern, Lissencephaly, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... OMIM:180104
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Short stature, Brach... OMIM:617927
Nanophthalmos 4
Reduced visual acuity, Visual impairment, Optic disc drusen OMIM:615972
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... ORPHA:101029
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Acalvaria
Abnormality of neuronal migration, Postaxial hand polydactyly, Hydrocephalus, Cleft palate ORPHA:945
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Polydactyly, Renal insufficiency, Hypogonadism, Obesity OMIM:615996
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Rod-cone dystrophy, ... OMIM:616307
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ... ORPHA:1988
Retinitis Pigmentosa 18
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... OMIM:601414
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Cednik Syndrome
Nephrotic syndrome, Short stature, Diffuse palmoplantar hyperkeratosis, Optic atrophy, Proteinuri... ORPHA:66631
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Ulnar deviation of the hand, Cerebral cortical atrophy, Talipes equinovarus, A... OMIM:214100
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Leber Congenital Amaurosis 15
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... OMIM:613843
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Brain atrophy, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Me... ORPHA:251004
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Cerebral cortical atrophy, Retinal degeneration, Macular d... OMIM:604360
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... OMIM:619977
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Scotoma, Reduced visual acuity OMIM:165300
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Polycystic kidney dysplasia, Congenital blindness, Retinal dystrophy OMIM:263100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly, Ventriculomegaly OMIM:618677
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Nephronophthisis, Retinal dystrophy, Tubulointerstitial... OMIM:616629
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... OMIM:613801
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Clinodactyly of the 5th finger, Nephropathy, Proteinuria ORPHA:2820
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Nephropathy, Retinal hemorrhage, Hematuria, Renal cyst, Renal insufficiency, Retinal arteriolar t... OMIM:611773
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Avascular necrosis of the capital ... OMIM:611555
Papillorenal Syndrome
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... OMIM:120330
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration, Myopia OMIM:311000
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Int... ORPHA:1505
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Retinitis Pigmentosa 28
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... OMIM:606068
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, Reduced visual acuity, Optic atrophy, 3-Methylglutaconic aciduria, Vis... OMIM:258501
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia OMIM:614565
Mosaic Trisomy 1
Renal cortical cysts, Long toe, Micropenis, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly,... ORPHA:1692
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:616544
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia OMIM:610356
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling OMIM:614859
Lissencephaly 6 With Microcephaly
Wide mouth, Periventricular heterotopia, Microlissencephaly, Polymicrogyria, Tapered finger, Part... OMIM:616212
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia, Rod-cone dystrophy OMIM:276902
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Retinitis Pigmentosa 92
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... OMIM:619614
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Postaxial hand polydactyly, Postaxial foot polydactyly, Ventriculome... OMIM:614120
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Brachyda... OMIM:615986
Wolfram-Like Syndrome, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Optic disc pallor, Blind-spot enlargment, Severely reduced ... OMIM:614296
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Bilateral talipes equinovarus, Unilateral renal agenesis, Micropenis, Postaxial ... OMIM:618142
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Retinal dystrophy, Visua... OMIM:615147
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Clinodactyly of the 5th finger, Bilateral single transverse pa... ORPHA:2216
Tritanopia
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Flared iliac wing, Brain atrophy, Renal tubular atro... OMIM:617303
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Short stature, Hypospadias, Micromelia, Po... OMIM:614091
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... OMIM:616289
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia, Cerebellar atro... OMIM:608776
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration, Ce... OMIM:256731
Jalili Syndrome
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy OMIM:217080
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Overlapping toe OMIM:618572
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Posterior Column Ataxia With Retinitis Pigmentosa
Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Nyctalopia, Recurr... OMIM:609033
Joubert Syndrome 15
Retinopathy, Retinal dystrophy, Nephronophthisis, Micropenis OMIM:614464
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... OMIM:618977
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Maternally-Inherited Diabetes And Deafness
Retinopathy, Abnormal chorioretinal morphology, Renal insufficiency, Proteinuria, Glomerulopathy,... ORPHA:225
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... ORPHA:411527
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Retinal degeneration, Macular degeneration, Reduced visual... OMIM:270700
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:614186
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal p... ORPHA:644
Birdshot Chorioretinopathy
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... ORPHA:179
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Joubert Syndrome 6
Retinal degeneration, Nephronophthisis, Blindness, Stage 5 chronic kidney disease, Chorioretinal ... OMIM:610688
Retinitis Pigmentosa 6
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... OMIM:312612
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy, Nyctalopia OMIM:179840
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Pec... OMIM:607323
Usher Syndrome, Type 1M
Optic disc pallor, Nyctalopia, Left ventricular hypertrophy, Drusen OMIM:618632
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... OMIM:605750
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... OMIM:303700
Refsum Disease, Classic
Nyctalopia, Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Diplopia, Mizuo ... ORPHA:75382
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Nycta... OMIM:615630
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Gray matter heterotopia, Talipes equinovarus, Clef... OMIM:603671
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Gray matter heterotopia, Colon cancer, Agenesis of corpus callosum OMIM:619101
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... OMIM:600105
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... ORPHA:284454
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Orofaciodigital Syndrome Xv
Postaxial polydactyly, Lobulated tongue, Broad hallux, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:133780
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:601813
Harrod Syndrome
Failure to thrive, Arachnodactyly, Hypospadias, Renal cortical microcysts, Aganglionic megacolon OMIM:601095
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... OMIM:613310
Retinitis Pigmentosa
Abnormality of fundus pigmentation, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral vi... OMIM:268000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Hepatomegaly, Chronic tubulointerstitial nephritis, Short stature, Metaphyseal ... OMIM:614376
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia, Retinal flecks OMIM:136880
Irvan Syndrome
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... ORPHA:209943
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment, Myopia ORPHA:75373
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Micropenis, Postaxial pol... OMIM:613091
Sandhoff Disease
Blindness, Hepatomegaly, Cherry red spot of the macula, Splenomegaly ORPHA:796
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... ORPHA:436274
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Joubert Syndrome 39
Postaxial polydactyly, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney ... OMIM:619562
Retinitis Pigmentosa 60
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:613983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Cone-Rod Dystrophy 8
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... OMIM:605549
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy OMIM:602271
Idiopathic Uveal Effusion Syndrome
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... ORPHA:209956
Joubert Syndrome 7
Renal cyst, Retinal dystrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, Cone/cone-ro... OMIM:615973
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Postaxial polydactyly, Hypospadias, Renal dysplasia, Hypogonadism, Obesity OMIM:615985
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Absent foveal reflex, Cystoid macular edema, Abnor... ORPHA:52427
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly OMIM:615984
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Reduced visual acuity, Abnormal best corrected visual acuity test, Periph... ORPHA:137902
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum, Adducted thumb ORPHA:324422
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Rod-cone dystrophy, Arachnodactyly, Renal agenesis, Abnormality of the ki... ORPHA:261222
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology, Oral cleft ORPHA:141091
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... OMIM:610478
Fanconi Anemia, Complementation Group O
Miscarriage, Absent thumb, Short stature, Hypoplasia of the radius, Small thenar eminence, Neonat... OMIM:613390
Orofaciodigital Syndrome Xvii
High, narrow palate, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger... OMIM:617926
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Reduced visual acuity, Macular degeneration OMIM:618195
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Nyctalopia, Renal c... OMIM:250410
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Sarcosinemia
Optic atrophy, Hypersarcosinuria, Congenital blindness ORPHA:3129
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Thin upper lip vermilion, Agenesis of corp... ORPHA:2512
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180105
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Cerebral atrophy, Short stature, Arachnodactyly, Proteinuria, Glomerular scle... OMIM:301006
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Glycogen Storage Disease Iv
Hepatosplenomegaly, Tubulointerstitial fibrosis OMIM:232500
Retinitis Pigmentosa 41
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... OMIM:612095
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Dysgyria ORPHA:352682
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency, Visual loss, Optic atrophy, Visual impairment, Progressive visual loss, Blindness OMIM:601338
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Late-Onset Retinal Degeneration
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... ORPHA:67042
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy, Nyctalo... ORPHA:166035
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... OMIM:249710
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Brach... OMIM:617866
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Retinal degeneration, Visual loss, Cone/cone-rod dystrophy, Optic atrophy OMIM:249270
Renal-Hepatic-Pancreatic Dysplasia 2
Talipes equinovarus, Hepatomegaly, Femoral bowing, Cystic renal dysplasia, Enlarged kidney, Still... OMIM:615415
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone morphology, Camptodactyly of... ORPHA:916
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... OMIM:264420
Chromosome Xq21 Deletion Syndrome
Choroideremia, Nyctalopia, Constriction of peripheral visual field, Chorioretinal atrophy, Progre... OMIM:303110
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Nephrotic syndrome, Cerebellar vermis atrophy, Decreased body wei... OMIM:618347
Mucolipidosis Iv
Photophobia, Retinal degeneration, Optic atrophy, Cerebellar atrophy, Visual impairment OMIM:252650
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Retinal degeneration, Cerebral atrophy, Rod... ORPHA:391428
Retinitis Pigmentosa 58
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... OMIM:613617
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... OMIM:193220
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, R... OMIM:618173
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:375
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Abnormality of vision, Renal cyst, Meningocele, Visual impairment, ... ORPHA:2031
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field OMIM:520000
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scotoma, Blin... OMIM:616732
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy... OMIM:165500
Retinitis Pigmentosa 77
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity, Retinal atrophy OMIM:617304
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Hammertoe, Proteinuria, Distal upper limb amyotrophy, Split h... OMIM:614455
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atro... OMIM:616171
Gyrate Atrophy Of Choroid And Retina
Foveoschisis, Nyctalopia, Chorioretinal atrophy, Visual impairment, Blindness, Macular thickening... OMIM:258870
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Retinitis Pigmentosa 86
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... OMIM:618613
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration, Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... OMIM:601777
Congenital Hydrocephalus
Hydrocephalus, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly, Colpocephaly ORPHA:2185
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Gapo Syndrome
Optic atrophy, Hepatomegaly, Photophobia, Tubulointerstitial fibrosis OMIM:230740
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, Cone dystrophy, High myopia, Dyschromatopsia OMIM:610024
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria, Hypercalciuria, L... OMIM:308990
Retinitis Pigmentosa 66
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... OMIM:615233
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly, Obesity, Nephrocalcinosis, Short long bone OMIM:615633
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Syndactyly, Polydactyly, Polymicrogyria, Ventriculomegaly, Smooth philtrum OMIM:602501
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneration, Hypoplasia of the ulna,... OMIM:208500
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Meckel Syndrome, Type 3
Hydrocephalus, Cleft palate, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:607361
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinopathy, Blindness ORPHA:216873
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Short stature, Multicystic kidn... ORPHA:110
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Retinitis Pigmentosa 49
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... OMIM:613756
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Short stature, Enlarged kidn... OMIM:232200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... OMIM:236500
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Tapered finger... OMIM:608836
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Pigmentary retinopathy, Proximal tubulopathy, Blindness OMIM:560000
Sjogren-Larsson Syndrome
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Retinal thinning, ... OMIM:270200
Trisomy 17P
Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Tapered finger, Polycystic ki... ORPHA:261290
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Distal Tetrasomy 15Q
Arachnodactyly, Abnormality of the kidney, Nephroblastoma, Camptodactyly, Large for gestational a... ORPHA:314588
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Canavan Disease
Brain atrophy, Elevated urinary N-acetylaspartic acid level, Optic atrophy, Visual impairment, Bl... OMIM:271900
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, Drusen OMIM:608895
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... OMIM:616469
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:610283
Hsd10 Mitochondrial Disease
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration, Visual loss OMIM:300438
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Optic Pathway Glioma
Visual field defect, Papilledema, Reduced visual acuity, Visual loss, Optic atrophy, Blindness ORPHA:2086
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... OMIM:258860
Mend Syndrome
High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly... OMIM:300960
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Retinitis Pigmentosa 56
Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... OMIM:613581
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Narrow greater sciatic notch, Metaphyseal widening, Polycystic kidne... OMIM:263210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Short humerus, Enlarged kidney, Hydronephrosis, Hand polydactyly, Proximal plac... OMIM:314390
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Congenital hip dislocatio... OMIM:113650
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones, Short stature OMIM:211890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystrophy, Postaxial hand po... OMIM:263520
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Poretti-Boltshauser Syndrome
Retinal thinning, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia OMIM:615960
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Visual loss, Retin... OMIM:610127
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 3
Nephronophthisis, Pigmentary retinopathy, Retinal dystrophy, Visual impairment, Stage 5 chronic k... OMIM:608629
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Postaxial hand polydacty... OMIM:216360
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Blindness, Renal insufficiency, Retinal dystrophy ORPHA:713
Spastic Paraplegia 55, Autosomal Recessive