Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Rod-cone dystrophy, Stage 5 chronic kidney disease, Visual impairment |
OMIM:610189 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst |
OMIM:615987 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Reduced visual a... |
OMIM:615993 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Nyctalopia, Renal cyst, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration, Nephronophthisis |
OMIM:614845 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... |
OMIM:603649 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment |
OMIM:600110 |
Retinitis Pigmentosa 42 |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... |
OMIM:612943 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Senior-Loken Syndrome 3 |
|
Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne... |
OMIM:606995 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Photophobia, Progressive night bli... |
ORPHA:75858 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric... |
OMIM:607432 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment |
OMIM:126600 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Hanac Syndrome |
|
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity, Polydactyly, Hypogonadism, Retinopathy |
OMIM:615988 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Macular Dystrophy, Patterned, 2 |
|
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation |
OMIM:608970 |
Senior-Loken Syndrome 5 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... |
OMIM:610951 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Arima Syndrome |
|
Hepatomegaly, Blindness, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic... |
OMIM:243910 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Optic Atrophy 9 |
|
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... |
OMIM:616289 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... |
OMIM:616152 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration |
OMIM:601780 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Rod-cone dystrophy, Polydactyly, Obesity |
OMIM:615991 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Obesity, Hypogonadism, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy... |
OMIM:615983 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Ph... |
OMIM:204000 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... |
OMIM:609923 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k... |
ORPHA:3156 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... |
OMIM:204200 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Renal Coloboma Syndrome |
|
Myopia, Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dyspl... |
ORPHA:1475 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204500 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Reduc... |
OMIM:610188 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... |
OMIM:143200 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... |
ORPHA:90050 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Optic atrophy, Cerebral atrophy, Renal cortical cysts, Failure to thrive |
OMIM:609180 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Nyctalopia, Reduced visual ac... |
OMIM:613464 |
Senior-Loken Syndrome 4 |
|
Polyuria, Amblyopia, Stage 5 chronic kidney disease, Nephronophthisis, Severely reduced visual ac... |
OMIM:606996 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease... |
OMIM:618161 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
Meckel Syndrome 13 |
|
Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Nephronophthisis, Micropenis, Retinopathy |
OMIM:614464 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... |
OMIM:612712 |
Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Chronic kidney disease, Re... |
ORPHA:84081 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Retinal dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610156 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Severely reduced visual acuity |
OMIM:309555 |
Mpdu1-Cdg |
|
Optic atrophy, Renal cortical cysts |
ORPHA:79323 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Renal insufficiency, Constriction of peripheral visual field, Nyctalopia, Reduced v... |
OMIM:613861 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Micropenis, Myopia, Retinal degeneration |
ORPHA:3363 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... |
OMIM:610381 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Single transverse palmar crease, Cubitus valgus, Cryptorchidism, Metatarsus adductu... |
OMIM:214110 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... |
OMIM:619382 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Micromelia, Cryptorchidism, Postax... |
OMIM:211750 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Wide mouth, Lateral ventricle dilatation, Short palm, Polymicrogyria |
OMIM:300982 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
Macular Dystrophy, Vitelliform, 1 |
|
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis |
ORPHA:140976 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Odontochondrodysplasia 1 |
|
Death in infancy, Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widenin... |
OMIM:184260 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ... |
OMIM:551500 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... |
OMIM:256730 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Hypoplasia of penis, Retinal degeneration |
OMIM:275400 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect |
OMIM:618511 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... |
OMIM:615990 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels |
OMIM:165510 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal locali... |
ORPHA:1988 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... |
ORPHA:414 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Short digit, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Retinal dystrophy,... |
ORPHA:397715 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Hypogon... |
ORPHA:141333 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks |
OMIM:611809 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Aminoaciduria, Death in childhood, Ulnar deviation of the hand o... |
OMIM:214100 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology, Hydronephrosis |
OMIM:598500 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Abnormal retinal vascular mo... |
ORPHA:791 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... |
OMIM:615994 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... |
ORPHA:54370 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst |
OMIM:605231 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Short stature, Micromel... |
ORPHA:474 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Short stature, Single transverse palmar crease, Urinary incontinence, Sandal gap, ... |
OMIM:617927 |
Lissencephaly 4 |
|
Agenesis of corpus callosum, Colpocephaly, Lissencephaly, Simplified gyral pattern |
OMIM:614019 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co... |
OMIM:616307 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Acalvaria |
|
Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal migration, Cleft palate |
ORPHA:945 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Cednik Syndrome |
|
Proteinuria, Short stature, Diffuse palmoplantar hyperkeratosis, Optic atrophy, Nephrotic syndrom... |
ORPHA:66631 |
Optic Atrophy 3, Autosomal Dominant |
|
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma |
OMIM:165300 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria |
OMIM:611773 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Renal cyst, Death in infancy, Hepatomegaly, Hypospadias, Cryptor... |
OMIM:614866 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Retinitis Pigmentosa 40 |
|
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:613801 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia... |
OMIM:611555 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Degeneration of the lateral corticospinal tracts, Urinary urgency, Macular ... |
OMIM:604360 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Reduced visual acuity, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Vis... |
OMIM:258501 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Photophobia, Abnormal retinal morphology o... |
ORPHA:251004 |
Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Single transverse palmar crease, Periventricular heterotopia, Pachygyri... |
OMIM:616212 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Severe short stature, Proteinuria |
ORPHA:2820 |
Nephronophthisis 18 |
|
Retinitis, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointersti... |
OMIM:615862 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment |
OMIM:616335 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... |
OMIM:614296 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... |
OMIM:613885 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, ... |
OMIM:615996 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping fingers, Overlapping toe, Unilateral renal agenesis, Pos... |
OMIM:618142 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Bone spicule pigmentation of the retina, Brachydactyly, Postaxia... |
OMIM:615986 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Macular degeneration, Tubulointerstitial nephr... |
OMIM:616629 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Maternal Hyperthermia-Induced Birth Defects |
|
Clinodactyly of the 5th finger, Abnormality of neuronal migration, Cleft palate, Bilateral single... |
ORPHA:2216 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasi... |
OMIM:608776 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly, Pachygyria |
OMIM:614870 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short stature, Hypospadias, Micromelia, Bowing o... |
OMIM:614091 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Tritanopia |
|
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal chorioretinal morphology, Macular dyst... |
ORPHA:225 |
Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Overlapping toe |
OMIM:618572 |
Joubert Syndrome 6 |
|
Blindness, Stage 5 chronic kidney disease, Chorioretinal coloboma, Nephronophthisis, Retinal dege... |
OMIM:610688 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Reduced visual acuity, Urinary urgency, Macular degeneration, Visual impair... |
OMIM:270700 |
Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, P... |
OMIM:245800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Patent ductus arteriosus, Optic at... |
OMIM:617303 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... |
ORPHA:644 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia, Left ventricular hypertrophy |
OMIM:618632 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot polydactyly, Preaxial foo... |
OMIM:614120 |
Usher Syndrome, Type Iid |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:611383 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Recurrent u... |
OMIM:609033 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Adenomatous colonic polyposis, Colon cancer, Agenesis of corpus callosum |
OMIM:619101 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Joubert Syndrome 17 |
|
Abnormal retinal morphology, Postaxial polydactyly, Abnormal renal morphology, Preaxial polydacty... |
OMIM:614615 |
Joubert Syndrome 39 |
|
Retinal dystrophy, Postaxial polydactyly, Overweight, Joint contracture of the 5th finger, Polycy... |
OMIM:619562 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Nyctalopia, Chronic kidney disease, Nephronophthisis, Retinal degener... |
OMIM:615630 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorc... |
OMIM:613390 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Progressive visual loss, Cere... |
OMIM:256731 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Prolonged Electroretinal Response Suppression 2 |
|
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... |
OMIM:620344 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
Alg13-Cdg |
|
Long philtrum, Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:620102 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short digit, Short stature, Metaphyseal spurs, Postaxial polydactyly, Met... |
OMIM:613091 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Brachydactyly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Short il... |
OMIM:614376 |
Cln3 Disease |
|
Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retin... |
ORPHA:228346 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agene... |
OMIM:236500 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Sandhoff Disease |
|
Splenomegaly, Cherry red spot of the macula, Blindness, Hepatomegaly |
ORPHA:796 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria |
ORPHA:2613 |
Refsum Disease, Classic |
|
Retinal degeneration, Cardiomegaly, Nyctalopia, Rod-cone dystrophy, Abnormal renal physiology |
OMIM:266500 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Joubert Syndrome 7 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray mat... |
OMIM:604317 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosis, Short long bone, Rod-cone dystr... |
OMIM:615633 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... |
OMIM:614292 |
Sarcosinemia |
|
Hypersarcosinuria, Congenital blindness, Optic atrophy |
ORPHA:3129 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Proteinuria, Short stature, Arachnodactyly, Minimal change glomerulonephritis... |
OMIM:301006 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Retinal dystrophy, Aganglionic megacolon,... |
ORPHA:261222 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism, Rod-cone dystrophy, Renal dysplasia |
OMIM:615985 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Catel-Manzke Syndrome |
|
Ventriculomegaly, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2nd finger,... |
ORPHA:1388 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental... |
OMIM:618347 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Peripheral visual f... |
OMIM:250410 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... |
OMIM:303110 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration |
OMIM:520000 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Visual loss, Optic atrophy, Urinary urgency, Progressive visual loss, Visual impairment |
OMIM:601338 |
Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventr... |
ORPHA:2512 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Cleft palate, Talipes equinovarus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616570 |
Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Tubulointerstitial fibrosis |
OMIM:232500 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Hsd10 Disease, Infantile Type |
|
Blindness, Diffuse cerebral atrophy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Visu... |
ORPHA:391428 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Aminoaciduria, Retinal degeneration |
OMIM:249270 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... |
ORPHA:916 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Renal cyst, Horseshoe kidney, Visual field defect, Rod-cone dystrophy, Cerebral corti... |
ORPHA:166035 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Retinal detachment, Proteinuria, Hematuria |
ORPHA:375 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... |
OMIM:258870 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, D... |
ORPHA:314588 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidi... |
ORPHA:110 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment |
OMIM:252650 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Tapered finger, Patent ductus arteriosus, Ure... |
ORPHA:261290 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... |
ORPHA:85450 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... |
OMIM:616732 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Blindness, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic ... |
ORPHA:254913 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... |
OMIM:165500 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Proteinuria |
OMIM:189800 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft |
ORPHA:141091 |
Cach Syndrome |
|
Cerebellar atrophy, Blindness, Optic atrophy, Renal hypoplasia, Cerebral atrophy, Hepatosplenomeg... |
ORPHA:135 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Abnormality of vision, Chorioretinal coloboma, Visual i... |
ORPHA:2031 |
Verheij Syndrome |
|
Small for gestational age, Optic nerve hypoplasia, Renal agenesis, Short stature, Hip dislocation... |
OMIM:615583 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis,... |
OMIM:617914 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot polydactyly, Polydactyly,... |
OMIM:607361 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventriculomegaly, Hydrocephalus, Polydactyly, Polymicrogyria, Smooth philtrum |
OMIM:602501 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Short phalan... |
OMIM:208500 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Retinopathy, Blindness, Optic atrophy |
ORPHA:216873 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Claw hand deformity, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:614455 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Short stature, Lipemia retinalis, Nephrolithiasis, Growth delay, Focal... |
OMIM:232200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Renal insufficiency, Death in infancy, Hepatomegaly, Tapered toe,... |
OMIM:608836 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephronophthisis 13 |
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Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Macular Degeneration, Age-Related, 3 |
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Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Bietti Crystalline Corneoretinal Dystrophy |
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Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Retinitis Pigmentosa 56 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Canavan Disease |
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Blindness, Optic atrophy, Elevated urinary N-acetylaspartic acid level, Brain atrophy, Visual imp... |
OMIM:271900 |
Iga Nephropathy, Susceptibility To, 2 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Meckel Syndrome, Type 9 |
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Multicystic kidney dysplasia |
OMIM:614209 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Hepatomegaly, Blindness, Polyuria, Pigmentary retinopathy, Proximal tubulopathy |
OMIM:560000 |
Cone-Rod Dystrophy 18 |
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Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... |
OMIM:615374 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Ulnar deviation of the hand, Metaphyseal widening, Short long bone, Narrow greater sciatic notch,... |
OMIM:263210 |
Spastic Paraplegia 82, Autosomal Recessive |
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Optic atrophy, Reduced visual acuity, Cerebral atrophy |
OMIM:618770 |
Cystic Hamartoma Of Lung And Kidney |
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Multicystic kidney dysplasia |
ORPHA:2111 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne... |
OMIM:314390 |
Periventricular Nodular Heterotopia 7 |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, 1-4 toe syn... |
OMIM:617201 |
Hsd10 Mitochondrial Disease |
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Visual loss, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:300438 |
Nephrotic Syndrome, Type 7 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Focal Segmental Glomerulosclerosis 10 |
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Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Cone-Rod Dystrophy 10 |
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Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Hyperparathyroidism 2 With Jaw Tumors |
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Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Focal Segmental Glomerulosclerosis 6 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Spermatogenic Failure 62 |
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Male infertility, Non-obstructive azoospermia |