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 |
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Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Optic Pathway Glioma |
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Visual field defect, Papilledema, Reduced visual acuity, Visual loss, Optic atrophy, Blindness |
ORPHA:2086 |
Orofaciodigital Syndrome Iv |
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High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... |
OMIM:258860 |
Mend Syndrome |
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High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly... |
OMIM:300960 |
Hallux Varus And Preaxial Polysyndactyly |
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Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Retinitis Pigmentosa 56 |
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Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... |
OMIM:613581 |
Cystic Hamartoma Of Lung And Kidney |
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Multicystic kidney dysplasia |
ORPHA:2111 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Ulnar deviation of the hand, Narrow greater sciatic notch, Metaphyseal widening, Polycystic kidne... |
OMIM:263210 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Urethral atresia, Short humerus, Enlarged kidney, Hydronephrosis, Hand polydactyly, Proximal plac... |
OMIM:314390 |
Polydactyly, Preaxial I |
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Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
Branchiootorenal Syndrome 1 |
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Unilateral renal agenesis, Abnormal renal collecting system morphology, Congenital hip dislocatio... |
OMIM:113650 |
Campomelia, Cumming Type |
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Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones, Short stature |
OMIM:211890 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Retinal detachment, Congenital blindness |
ORPHA:436182 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Micropenis, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystrophy, Postaxial hand po... |
OMIM:263520 |
Meckel Syndrome, Type 9 |
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Multicystic kidney dysplasia |
OMIM:614209 |
Poretti-Boltshauser Syndrome |
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Retinal thinning, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia |
OMIM:615960 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Visual loss, Retin... |
OMIM:610127 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
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Multicystic kidney dysplasia |
ORPHA:3270 |
Joubert Syndrome 3 |
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Nephronophthisis, Pigmentary retinopathy, Retinal dystrophy, Visual impairment, Stage 5 chronic k... |
OMIM:608629 |
Coach Syndrome 1 |
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Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Postaxial hand polydacty... |
OMIM:216360 |
Focal Segmental Glomerulosclerosis 6 |
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Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Myoglobinuria, Blindness, Renal insufficiency, Retinal dystrophy |
ORPHA:713 |
Spastic Paraplegia 55, Autosomal Recessive |
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