Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sdccag8 MGI:1924066

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

serologically defined colon cancer antigen 8

Synonyms:

CCCAP, 5730470G24Rik, 2700048G21Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sdccag8 mutations

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

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

Human diseases associated with Sdccag8 (4 diseases)
Human diseases predicted to be associated with Sdccag8 (1805 diseases)

The table below shows human diseases associated to Sdccag8 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Reduced visual a...	OMIM:615993
Senior-Loken Syndrome 7	Retinal degeneration, Nephronophthisis	OMIM:613615
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k...	ORPHA:3156
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidi...	ORPHA:110

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

Disease	Matching phenotypes	Source
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	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen	OMIM:608895
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Canavan Disease	Blindness, Optic atrophy, Elevated urinary N-acetylaspartic acid level, Brain atrophy, Visual imp...	OMIM:271900
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Blindness, Polyuria, Pigmentary retinopathy, Proximal tubulopathy	OMIM:560000
Cone-Rod Dystrophy 18	Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment...	OMIM:615374
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Metaphyseal widening, Short long bone, Narrow greater sciatic notch,...	OMIM:263210
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Reduced visual acuity, Cerebral atrophy	OMIM:618770
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne...	OMIM:314390
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, 1-4 toe syn...	OMIM:617201
Hsd10 Mitochondrial Disease	Visual loss, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Poretti-Boltshauser Syndrome	Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia	OMIM:615960
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac...	OMIM:619260
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect	ORPHA:2086
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Branchiootorenal Syndrome 1	Renal malrotation, Congenital hip dislocation, Facial palsy, Unilateral renal agenesis, Renal ste...	OMIM:113650
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullar...	OMIM:216360
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment	OMIM:618768
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Retinal dystrophy, Blindness	ORPHA:713
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Nanophthalmos 4	Hypermetropia, Reduced visual acuity, Optic disc drusen	OMIM:615972
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia	OMIM:211890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Hypomelanosis Of Ito	Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Gray matter heterotopia, Hand po...	OMIM:300337
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Isolated Succinate-Coq Reductase Deficiency	Blindness, Reduced visual acuity, Pigmentary retinopathy, Vesicoureteral reflux, Left ventricular...	ORPHA:3208
Gapo Syndrome	Hepatomegaly, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Photophobia, Tubulointe...	OMIM:230740
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Miscarriage, Bilateral cryptor...	ORPHA:96179
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu...	ORPHA:506353
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts	ORPHA:2924
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts, Cerebral visual impairment	OMIM:618548
Edinburgh Malformation Syndrome	Long fingers, Hydrocephalus, Abnormality of neuronal migration, Ulnar deviation of finger, Downtu...	ORPHA:1895
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, Retinal coloboma, Pol...	OMIM:616546
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Severe Canavan Disease	Blindness, Optic atrophy	ORPHA:314911
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Wrist swelling, Stage 5 chronic ki...	OMIM:166300
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618195
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Postaxial foot polydactyly, Macular hypopigmentation, Hypogon...	OMIM:617119
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment	ORPHA:141
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho...	ORPHA:3103
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Joubert Syndrome 3	Retinal dystrophy, Stage 5 chronic kidney disease, Pigmentary retinopathy, Nephronophthisis, Visu...	OMIM:608629
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Blindness, Renal agenesis, Optic atrophy, Cere...	OMIM:220500
Åland Islands Eye Disease	Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ...	ORPHA:178333
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn...	OMIM:608022
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Short stat...	ORPHA:2715
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,...	ORPHA:79264
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Retinitis Pigmentosa 93	Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity	OMIM:619845
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Visual loss,...	OMIM:610127
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Abnormal thumb morpho...	ORPHA:500095
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc...	OMIM:612989
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P...	OMIM:300578
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, Squared iliac bones,...	OMIM:616300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dyspla...	OMIM:615415
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Cryptorchidism, Nephrotic syndrome, Nephropathy, Cerebral cortical at...	ORPHA:1192
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Single transverse palm...	OMIM:612651
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi...	OMIM:620156
Galloway-Mowat Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Brain atrophy, S...	OMIM:617731
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact...	OMIM:615989
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Lipemia retinalis, Nephrolithiasis, Focal...	OMIM:232220
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Tented upper lip vermilion, Talipes equinovarus, Long philtrum	OMIM:619972
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v...	ORPHA:98890
Stromme Syndrome	Optic nerve hypoplasia, Bilateral renal hypoplasia, Preaxial polydactyly, Stillbirth, Retinal vas...	OMIM:243605
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Behr Syndrome	Cerebellar atrophy, Blindness, Optic atrophy, Cerebellar vermis atrophy, Hypoplastic optic chiasm...	OMIM:210000
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Splenomegaly, Nyctalopia, Abnormality o...	ORPHA:773
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe synd...	OMIM:613443
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Blindness, Cerebral atrophy	OMIM:617899
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Rod-cone dystrophy	OMIM:601539
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hepatosplenomegaly, Hypera...	OMIM:618955
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Tapered f...	OMIM:617730
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Eth...	ORPHA:26791
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Short stature, Renal hypoplasia/aplasia, Bilat...	ORPHA:2754
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorchidism, Chronic...	ORPHA:97362
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sh...	OMIM:201000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Upper limb asymmetry, Abno...	ORPHA:2063
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis...	OMIM:613095
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Severe postnatal growth retardati...	ORPHA:2237
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity	OMIM:618970
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Short stature, Single transverse palmar ...	OMIM:618348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Patent duct...	ORPHA:505248
Joubert Syndrome 30	Gray matter heterotopia, Postaxial hand polydactyly, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Cryptorchidism, Cleft palate, Gray matter heterotopia, Agenesis of co...	OMIM:164180
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopa...	OMIM:616171
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Hepatomegaly, Abnormal chorioretinal morphology, Vis...	ORPHA:5
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Immunoneurologic Disorder, X-Linked	Nyctalopia, Functional abnormality of the bladder	OMIM:300076
Renal Hypoplasia	Renal insufficiency, Urethral valve, Small for gestational age, Proteinuria, Unilateral renal age...	ORPHA:93101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Periventricular heterotopia, Downturned corners of mouth, Thick vermilion border...	OMIM:618974
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia	ORPHA:1390
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Abnormal hip bone ...	ORPHA:1166
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Meckel Syndrome, Type 10	Dilated fourth ventricle, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand poly...	OMIM:614175
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda...	OMIM:236700
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular...	OMIM:252500
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplas...	ORPHA:85284
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Hyperextensibility of the finger joints, Hypermobility of toe joints, Thin upper lip vermilion, A...	ORPHA:488635
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia	ORPHA:370022
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Agenesis of corpus callosum, Accessory oral frenulu...	OMIM:277170
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Trisomy 4P	Hypospadias, Camptodactyly of finger, Short stature, Preaxial hand polydactyly, Cryptorchidism, R...	ORPHA:1738
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic cysts, Splenomegaly, Patent ductus arteriosus, Stag...	OMIM:208540
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Short stature, Abnormal morpho...	ORPHA:1307
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R...	OMIM:125250
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, V...	OMIM:616733
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the ...	ORPHA:96149
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	OMIM:220110
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Trichohepatoenteric Syndrome 1	Hepatomegaly, Small for gestational age, Hypospadias, Short stature, Avascular necrosis of the ca...	OMIM:222470
Oculocutaneous Albinism Type 6	Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho...	ORPHA:370097
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta...	OMIM:614815
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, Hypopl...	ORPHA:959
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma...	OMIM:200980
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Cardi...	OMIM:256550
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydac...	OMIM:619471
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	ORPHA:436271
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Aminoaciduria, Delaye...	ORPHA:213
Sjögren-Larsson Syndrome	Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy	ORPHA:816
3Mc Syndrome 3	Short stature, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Growth delay...	OMIM:248340
X-Linked Immunoneurologic Disorder	Nyctalopia, Functional abnormality of the bladder	ORPHA:2571
Cone-Rod Dystrophy 19	Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my...	OMIM:615860
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Blindness, Optic atrophy, Brain atrophy	ORPHA:3078
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Part...	OMIM:616730
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Arachnodactyly, Stage 5 chronic kid...	OMIM:619609
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Lateral ventricle dilatation, Rocker bottom foot	OMIM:618266
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Hydrocephalus, Submucou...	ORPHA:899
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Abnormal renal morphology, Reduced vi...	OMIM:616562
Periventricular Nodular Heterotopia 1	Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Short finger, Clinodactyly	OMIM:300049
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Cryptorchidism, Preaxial han...	OMIM:175700
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma,...	ORPHA:2318
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Hepatomegaly, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Short stature, Growth delay, Delayed pubert...	ORPHA:369
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Optic atrophy, Retinal degeneration	OMIM:616211
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ...	OMIM:263630
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Lissencephaly 5	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly	ORPHA:99802
Joubert Syndrome 27	Retinopathy, Polydactyly, Dilatation of the renal pelvis	OMIM:617120
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Ureteral obstruction, Elb...	ORPHA:90652
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul...	ORPHA:279914
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Trisomy 13	Bilateral single transverse palmar creases, Abnormal retinal vascular morphology, Cryptorchidism,...	ORPHA:3378
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Single transverse palmar crease, Hip dislocation, G...	OMIM:619428
Alstrom Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Renal insufficiency, Blindness, Constriction of peripheral...	OMIM:203800
Orofaciodigital Syndrome I	Syndactyly, Proteinuria, Short stature, Pancreatic cysts, Cerebral atrophy, Ovarian cyst, Short 2...	OMIM:311200
Krabbe Disease	Blindness, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Neurodeg...	OMIM:245200
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Ma...	OMIM:219800
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Joubert Syndrome 14	Renal cyst, Optic atrophy, Morning glory anomaly, Cerebral visual impairment	OMIM:614424
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Death in infancy, Hepatomegaly, Unilateral renal agenesis, Postaxial polydact...	OMIM:614576
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla...	ORPHA:971
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Hypergonadotr...	OMIM:607426
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Intrauterine growth retardation, Short stature, Interphalangeal joint ...	OMIM:606242
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria, Ventriculomegaly	ORPHA:370980
Hajdu-Cheney Syndrome	Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Foot acroosteol...	OMIM:102500
Chromosome 3Pter-P25 Deletion Syndrome	Small for gestational age, Short stature, Overlapping toe, Tapered finger, Postnatal growth retar...	OMIM:613792
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Xfe Progeroid Syndrome	Renal insufficiency, Blindness, Proteinuria, Optic atrophy, Defective DNA repair after ultraviole...	OMIM:610965
Suleiman-El-Hattab Syndrome	Optic disc pallor, Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Fa...	OMIM:618950
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Wrist swelling, Slender long bone, Metacarpal ost...	ORPHA:2774
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Patent ductus arteriosus, 2-3 toe syndactyly, Large hands, Clinodactyl...	OMIM:606232
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Hepatomegaly, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Epidermal Nevus Syndrome	Atrophy of the spinal cord, Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp...	ORPHA:464329
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Homocystinuria, Cerebral atrophy	OMIM:250940
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Short...	ORPHA:2473
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity	OMIM:619165
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Optic atrophy	OMIM:603896
Cranioectodermal Dysplasia 4	Nyctalopia, Stage 5 chronic kidney disease, Hypermetropia, Rod-cone dystrophy, Visual impairment	OMIM:614378
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Proteinuria, Short stature	OMIM:620010
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Infantile Refsum Disease	Hepatomegaly, Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, R...	ORPHA:772
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Proteinuria	ORPHA:2143
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Hamartoma of tongue, Partial agenesis of the corpus call...	OMIM:619775
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Abnorm...	OMIM:209900
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl...	DECIPHER:81
Dent Disease 2	Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ...	OMIM:300555
Rhyns Syndrome	Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short...	OMIM:602152
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Renal agenesis, S...	OMIM:134780
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
H Syndrome	Hallux valgus, Short stature, Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Camptod...	ORPHA:168569
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
3-Methylglutaconic Aciduria, Type V	Hypospadias, Postnatal growth retardation, Cryptorchidism, Optic atrophy, 3-Methylglutaric acidur...	OMIM:610198
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventriculomegaly, Abnormality of neuronal migration, Micromelia	ORPHA:2772
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ...	OMIM:608091
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Left ventricu...	OMIM:619487
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Tetrasomy 18P	Abnormality of neuronal migration, Large hands, Thin vermilion border, Narrow mouth, Long philtrum	ORPHA:3307
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration, Neurogenic bladder	OMIM:619780
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia	OMIM:618273
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d...	ORPHA:209956
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Blindness, Remnants of the hyaloid vascular syst...	OMIM:609049
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Cryptorchidism, Large hands, Decreased testicular size	ORPHA:85287
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Syndactyly, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, ...	OMIM:603671
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Abnormality of neuronal migration	ORPHA:2204
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Axial Osteomalacia	Renal cyst	OMIM:109130
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness, Cerebral atrophy, Methylmalonic aciduria, Homocystinuria, Cerebral cortical atrophy	OMIM:236270
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Hematuri...	ORPHA:1765
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac...	OMIM:607131
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, H...	ORPHA:2044
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, Short philtrum, Polymicro...	OMIM:618731
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Bulging epiphyses, Short stature, Bowing of the legs, Delayed epiphyseal oss...	OMIM:300554
Martsolf Syndrome 2	Lateral ventricle dilatation, Overlapping toe, Camptodactyly of finger, Camptodactyly	OMIM:619420
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De...	OMIM:616362
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Sandal gap, Postaxial poly...	OMIM:174300
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit...	ORPHA:168491
Joubert Syndrome 10	Growth delay, Rod-cone dystrophy, Postaxial polydactyly	OMIM:300804
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compr...	ORPHA:276621
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Ventriculomegaly, Broad hallux, Exaggerated cupid's bow, Tapered finger, Long fing...	OMIM:618659
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth delay, Failure ...	OMIM:619858
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness, Abnormal medullary pyramid morphology, Cerebral atrophy	ORPHA:79243
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis, Camptodactyly of...	OMIM:249000
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Elbow flexion contracture, Abnormality of neuronal migration, Macroglossia, Joint con...	OMIM:608840
N Syndrome	Abnormality of chromosome stability, Hypospadias, Visual impairment	OMIM:310465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ureteral stenosis, Hydroureter, Cerebral visual impairment, Hypercalciuria, R...	OMIM:615398
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Abnormality of vision, Brain atrophy, Retinal degeneration	ORPHA:442835
Scheie Syndrome	Retinal degeneration	OMIM:607016
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Camptodactyly of finger, Cle...	ORPHA:261236
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Short stature, Facial palsy, Sandal gap, Broad hallux, Tapere...	OMIM:615873
Orofaciodigital Syndrome Xvi	Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Gray matter heteroto...	OMIM:617563
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Desmosterolosis	Abnormal cortical gyration, Micromelia, Intestinal malrotation, Pachygyria, Metatarsus adductus, ...	ORPHA:35107
22Q11.2 Deletion Syndrome	Hypospadias, Aganglionic megacolon, Short stature, Arachnodactyly, Retinal arteriolar tortuosity,...	ORPHA:567
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermetropia, C...	ORPHA:231169
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre...	ORPHA:436245
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M...	OMIM:146510
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, Renal c...	OMIM:122470
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr...	ORPHA:79263
Lymphoid Interstitial Pneumonia	Hepatomegaly, Clubbing, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retard...	OMIM:192350
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Proteinuria, Small for gest...	OMIM:251300
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ...	OMIM:614078
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Rocker bottom foot, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Abnormal shoulder morp...	ORPHA:2115
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Aase-Smith Syndrome I	Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Dandy-Walker malfor...	OMIM:147800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N...	ORPHA:79259
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria	OMIM:300653
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness, Cardiomegaly, Cerebral cortical atrophy, Oligosacchariduria	ORPHA:3137
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Gray matter heterotopia, ...	OMIM:617822
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy	ORPHA:552
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Knobloch Syndrome	Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration...	ORPHA:1571
Coffin-Lowry Syndrome	High palate, Widely spaced teeth, Advanced eruption of teeth, Short metacarpal, Pseudoepiphyses o...	ORPHA:192
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Abnormal autonom...	ORPHA:330001
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, Optic...	ORPHA:912
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Short stature, Patent ductus arteriosus after premature birth, Postaxial po...	OMIM:618460
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Patent ductus arteriosus, Femoral bowi...	OMIM:618188
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Angioid streaks of the fun...	OMIM:239000
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress...	ORPHA:886
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ...	ORPHA:805
Rhombencephalosynapsis	Finger syndactyly, Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tr...	ORPHA:59315
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepa...	ORPHA:470
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Lateral ventricle dilatation	OMIM:616816
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Abnormal neuron morphology, Preaxial polydactyly, Obesity, Cerebellar vermis atrophy	ORPHA:163681
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono...	OMIM:616217
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t...	OMIM:618291
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Failure to thrive, Optic disc pallor, Hypospadias, Small for gestational age,...	ORPHA:464311
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Splenomegaly, Cerebral atrophy, Mucopolysacchariduria, Retinal ...	OMIM:272200
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Abnorm...	ORPHA:834
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Congenital blindness, Optic atrophy	OMIM:608688
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:614879
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Nephroblastoma, Ovarian ser...	ORPHA:276280
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hepatomegaly, Splenomegaly, Reduced visual acuity, Reduced renal corticomedul...	OMIM:618541
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Retinal dysplasia, Chorior...	OMIM:213300
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Small for gestational age, Dysmenorrhea, Hypospadias, Postnatal growth retardation, C...	ORPHA:397590
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia	OMIM:616910
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Microphthalmia, Syndromic 8	Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i...	OMIM:601349
Alg9-Cdg	Cerebellar atrophy, Hypoplasia of the bladder, Hepatomegaly, Ulnar deviation of the hand, Rhizome...	ORPHA:79328
Cataract 11, Multiple Types	Blindness	OMIM:610623
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Gray matter heterotopia, Hip dys...	ORPHA:2655
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Pallidal degeneration, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v...	ORPHA:157850
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui...	ORPHA:168549
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor...	ORPHA:94147
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Periventricular hetero...	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:615249
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Methanol Poisoning	Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision	ORPHA:31825
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Retinal hemorrhage, Macular edema, Hematuria, Central nervous system degeneration, R...	OMIM:192315
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Gray matter heterotopia, Widely spaced teeth, Camptodactyly, Microdontia,...	OMIM:619694
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Macular degeneration, Nephronophthisis, Clino...	OMIM:266920
3C Syndrome	Finger syndactyly, Ventriculomegaly, Intestinal malrotation, High, narrow palate, Hydrocephalus, ...	ORPHA:7
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Hepatomegaly, Proteinuria, Postnatal gr...	ORPHA:90321
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Failure to thrive, Toe syndactyly, Hypospadias, Small for gesta...	ORPHA:464306
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compr...	ORPHA:29072
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Growth delay, Renal Fanconi sy...	OMIM:276700
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia, Optic atrophy	ORPHA:99947
Ogden Syndrome	Global glomerulosclerosis, Congenital hip dislocation, Short stature, Sandal gap, Broad hallux, C...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Death in infancy, Hepatomegaly, Premature ovarian insufficiency, Proteinuria,...	OMIM:212065
Thanatophoric Dysplasia Type 2	Micromelia, Hydrocephalus, Abnormality of neuronal migration, Abnormal metaphysis morphology, Ven...	ORPHA:93274
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Coxa valga, Periventricular heterotopia, Dee...	OMIM:619833
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumst...	OMIM:612938
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Wide capital femoral epiphyses, Proteinuria, Small for gestational age, Short ...	ORPHA:1830
Orofaciodigital Syndrome Xiv	Broad hallux, Retinitis, Epispadias, Cryptorchidism, Optic disc coloboma, Preaxial polydactyly, P...	OMIM:615948
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Shortening of all distal phal...	OMIM:615716
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Single transverse palmar crease, Micromelia, Periventricular heterotopia, Monke...	OMIM:618870
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Blindness, Optic nerve dysplasia, Retinal dysplasia, Micropenis, Hy...	OMIM:615287
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Blindness, Ocular albinism, Photophobia, Severely reduced visual acuity	OMIM:203300
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Facial palsy, Visual impairment	ORPHA:53
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Talipes equinovarus	ORPHA:401815
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:619269
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Nyctalopia, Visual impairment	ORPHA:96
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydrocephalus, Part...	OMIM:614643
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly	OMIM:616490
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Gray matter heterotopia,...	ORPHA:531151
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Postnatal growth retardation, Cryptor...	ORPHA:3404
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Galactosemia I	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Amino...	OMIM:230400
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia, Intrauteri...	OMIM:610199
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P...	ORPHA:347
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Partial agenesis of the corpus callosum, Anteri...	OMIM:305450
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly...	ORPHA:313781
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cryptorchidism, ...	ORPHA:73246
Syndromic Diarrhea	Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Patent ductus arteriosus, R...	ORPHA:84064
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal ar...	ORPHA:71273
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Short stature, Arachnodactyly, Hip ...	OMIM:617729
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidism, Disproport...	OMIM:242900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Retinal atrophy, Retinal dystrophy, Neurogenic bladder, U...	ORPHA:90324
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Short stature, Large for gestational age, Nephrocal...	OMIM:616026
Pontocerebellar Hypoplasia, Type 13	Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Clubbing, Lateral ventric...	OMIM:618606
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Simplified gyral pattern, L...	OMIM:619244
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Sandal gap, Facial palsy, Optic nerve hypoplasia, Tapered finger, M...	ORPHA:261349
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Optic disc colobom...	ORPHA:1454
Holoprosencephaly 5	Deep philtrum, Hydrocephalus, Orofacial cleft, Lateral ventricle dilatation, High palate	OMIM:609637
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Proteinuria, Abnormal retinal vascular morphology, Avascular necrosis o...	ORPHA:247691
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Blindness, Urinary incontinence, Cardiomegaly, Hepatosplen...	OMIM:268800
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Joubert Syndrome	Aganglionic megacolon, Hydrocephalus, Abnormality of neuronal migration, Orofacial cleft, Hand po...	ORPHA:475
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:603387
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Abnormality of retinal pigmentation, Scapular winging, Short metacarpal, Bowed...	OMIM:272460
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormali...	ORPHA:847
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Atro...	ORPHA:79282
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Reduced visual acuity	OMIM:620366
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy	ORPHA:3301
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Cockayne Syndrome A	Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope...	OMIM:216400
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Neurogenic bladder, Cerebral visual impairment, Optic atrophy, Reduced visual...	OMIM:616683
Braddock Syndrome	Short stature, Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardat...	ORPHA:52047
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy	ORPHA:370959
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy	OMIM:615636
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal ...	OMIM:608940
Alagille Syndrome 1	Duplicated collecting system, Myopia, Multiple small medullary renal cysts, Chorioretinal atrophy...	OMIM:118450
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Meacham Syndrome	Death in infancy, Patent ductus arteriosus, Horseshoe kidney, Stillbirth, Death in childhood, Neo...	OMIM:608978
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Hypos...	OMIM:268300
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Intellectual Developmental Disorder, X-Linked 12	Hip subluxation, Cryptorchidism, Abnormality of neuronal migration, Ventriculomegaly	OMIM:300957
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Cryptorchidism, Deep phi...	ORPHA:404440
Microphthalmia-Brain Atrophy Syndrome	Blindness, Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the ...	ORPHA:77299
Nail-Patella Syndrome	Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Short stature, Glenoid foss...	OMIM:161200
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Renal insufficiency, Renal cyst, Cerebral atrophy, Nephrocalcinosis, 3-Methyl...	ORPHA:445038
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Large for gestational age, Cardiomegaly, Cryptorchidism, Sple...	ORPHA:116
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Ventriculomegaly, Single transverse palmar crease, High palate, Clinoda...	OMIM:619188
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Hip dysplasia, Talipe...	OMIM:617219
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal...	OMIM:613388
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary...	ORPHA:88628
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Neu-Laxova Syndrome	Ventriculomegaly, Abnormality of the philtrum, Abnormal cortical gyration, Micromelia, Pachygyria...	ORPHA:2671
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Death i...	OMIM:133540
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Proteinuria, Short stature, Hematuria, Tubulointerstitial nephritis, Death in c...	OMIM:616901
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Hepatomegaly, Optic neuropathy, Proximal tubulopathy	ORPHA:2609
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Myoglobinuria, Failure to thrive, Small for gestational age	OMIM:609015
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Bowing of the legs, Growth delay, Glycosuria, Aminoaciduria, Lo...	OMIM:615605
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Aganglionic megacolon, Cleft palate, Pachygyria, Ventriculomegaly	ORPHA:66629
Adrenoleukodystrophy	Blindness, Urinary incontinence, Visual loss, Neurodegeneration, Urinary bladder sphincter dysfun...	OMIM:300100
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Galloway-Mowat Syndrome	Camptodactyly of finger, Hiatus hernia, Abnormality of the dentition, Aqueductal stenosis, Abnorm...	ORPHA:2065
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Proximal tubulopathy, Renal cyst	OMIM:602579
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Cinca Syndrome	Hepatomegaly, Blindness, Retrobulbar optic neuritis, Splenomegaly, Pseudopapilledema, Visual impa...	ORPHA:1451
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchid...	OMIM:247200
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration, Diplopia	ORPHA:284289
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Visual loss, Macular degeneration, Abnormal autonomic nervous system physio...	ORPHA:247234
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Clinodactyly, Subcortic...	OMIM:601390
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Proportionate short stature, Hepatic necrosis, Pigmentary retinopathy, Int...	ORPHA:71212
Fabry Disease	Renal insufficiency, Proteinuria, Abnormality of the hand, Urinary mulberry cells, Abnormal auton...	OMIM:301500
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal...	OMIM:108300
Joubert Syndrome 37	Hepatomegaly, Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Micr...	OMIM:619185
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Proteinuria, Microscopic hematuria, Cachexia, Splenomegaly, Weight ...	ORPHA:77297
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Simplified...	OMIM:251230
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Proteinuria, Non-acidotic proximal tubulopathy, Short sternum	OMIM:222448
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Peripheral visual field loss, Retinal degeneration	ORPHA:79244
Caroli Disease	Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Weight loss	ORPHA:53035
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im...	OMIM:203200
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Short...	ORPHA:261529
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-c...	ORPHA:96180
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Ventriculomegaly, Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Abnormality ...	OMIM:300968
Bohring-Opitz Syndrome	Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal...	OMIM:605039
White-Sutton Syndrome	Duplicated collecting system, Myopia, Blindness, Cerebellar atrophy, Optic atrophy, Hypermetropia...	ORPHA:468678
Tuberous Sclerosis 1	Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma	OMIM:191100
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormal femur morph...	ORPHA:3429
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Retinal coloboma, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Blindness, Facial palsy, Splenomegaly, Optic atrophy, Facial paralysis, Visual impa...	OMIM:259700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Genu valgum, Tubulointerstitia...	ORPHA:488627
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Pachygyria, Preaxial hand po...	ORPHA:2211
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti...	OMIM:613254
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:208085
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Iliac horns, Clinodact...	ORPHA:2614
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Proximal placement of thumb, Periventricular heterotopia, Cryptorchidism, Wide ...	ORPHA:261250
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Sturge-Weber Syndrome	Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o...	ORPHA:3205
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach...	OMIM:613819
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Polydactyly, Short finger	OMIM:182230
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Cryptorchi...	ORPHA:261344
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Patent ductu...	ORPHA:1556
Subependymal Nodular Heterotopia	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ...	ORPHA:101030
Developmental Delay With Or Without Dysmorphic Facies And Autism	Optic disc coloboma, Renal hypoplasia, Renal cyst, Cerebral cortical atrophy, Microphallus, Atrop...	OMIM:618454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re...	OMIM:236670
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Osteopetrosis, Autosomal Recessive 2	Blindness, Cranial nerve compression, Optic atrophy, Hepatosplenomegaly, Facial paralysis	OMIM:259710
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Splenomegaly, Oliguria...	ORPHA:731
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Agenesi...	OMIM:200990
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Rod-cone dystrophy, Reduced visual acuity	OMIM:619082
Glutamine Deficiency, Congenital	Micromelia, Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Camptodactyl...	OMIM:610015
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Hydrolethalus	Micromelia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Hydrocephalu...	ORPHA:2189
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali...	ORPHA:1187
Weiss-Kruszka Syndrome	Ventriculomegaly, Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of...	OMIM:618619
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Brain atrophy	OMIM:618225
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Myh9-Related Disease	Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis	ORPHA:182050
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy	OMIM:617763
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Single transverse palmar crease, Tapered finger, Hypoplastic philtru...	OMIM:618918
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Trisomy 20P	Finger syndactyly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidis...	ORPHA:261318
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy...	ORPHA:85443
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Madras Motor Neuron Disease	Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment	ORPHA:137867
Melas	Proteinuria, Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Focal segmental glomeru...	ORPHA:550
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cerebral atrophy, Su...	ORPHA:261265
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma	OMIM:602499
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Talipes equinovarus, Renal dysplasia	OMIM:191830
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Cockayne Syndrome	Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retina...	ORPHA:191
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalci...	OMIM:227810
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cryptorchidism, Multi...	ORPHA:2728
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr...	ORPHA:2886
Carpenter Syndrome 2	Short digit, Hitchhiker thumb, Single transverse palmar crease, Postaxial polydactyly, Bilateral ...	OMIM:614976
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor...	ORPHA:35069
Plasminogen Deficiency, Type I	Blindness, Nephritis, Nephrolithiasis	OMIM:217090
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,...	ORPHA:18
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Central scotoma, Optic atrophy, Visual i...	ORPHA:543470
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Growth delay, Talipes equinovarus, Camptodactyly, Clino...	OMIM:619980
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Reduced visual acuity	OMIM:617175
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Hemiatrophy	ORPHA:306669
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Short stature, Toe syndactyly,...	ORPHA:1001
Congenital Disorder Of Glycosylation, Type Iig	Single transverse palmar crease, Glossoptosis, High palate, Rhizomelia, Cryptorchidism, Squared i...	OMIM:611209
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Hypospadias, Cryptorchidism, ...	OMIM:312870
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger, Pelvic kidney, Hyposp...	ORPHA:508498
Ohdo Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Proteinuria, Short stature	OMIM:249620
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Single transverse palmar crease, Thick lowe...	OMIM:620075
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Abnormal palate morphology, Bilateral single transverse palmar...	ORPHA:44
Ddost-Cdg	Failure to thrive, Nephrotic range proteinuria, Short stature	ORPHA:300536
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Partial agenesis of th...	OMIM:620113
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Oligodontia, Lateral ventricle dilatation	OMIM:618330
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard pa...	OMIM:612863
Hurler Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:607014
Webb-Dattani Syndrome	Neurogenic bladder, Blindness, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis	OMIM:615926
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl...	ORPHA:2549
Campomelia, Cumming Type	Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Bowing of the long bones, Micromeli...	ORPHA:1318
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Cerebrooculonasal Syndrome	Hypoplasia of penis, Blindness	ORPHA:66625
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Optic atrophy, 3-Methylglutaconic aciduria, Myoglobinuria	OMIM:251900
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly, Aminoaciduria, Proteinuria	OMIM:603585
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Clinodactyly of...	ORPHA:857
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d...	OMIM:616331
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala...	OMIM:614219
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Abnormality of the kidney, Optic atrophy, Hepatosplenomega...	ORPHA:93400
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern, Bilateral talipes equinovarus	ORPHA:284417
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Failur...	OMIM:613845
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ...	OMIM:193300
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Hepatomegaly, Cardiomegaly, Heparan s...	ORPHA:581
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cryptorchidism, Cleft...	ORPHA:1512
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Postnatal growth retardation, Renal cyst, Failure to thrive	ORPHA:79303
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Small for gestational age, Hypergonadotropic hypogo...	OMIM:227646
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener...	OMIM:177850
Holoprosencephaly 14	Ventriculomegaly, Median cleft lip, Periventricular heterotopia, Aqueductal stenosis, Cleft lip, ...	OMIM:619895
Mend Syndrome	Short stature, Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, 2-3 toe syndactyly, M...	OMIM:300960
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Small for gestational age, Growth delay, Death in childhood, Mild proteinuri...	OMIM:619147
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,...	ORPHA:2092
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot...	ORPHA:370091
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Congenital stationary night blindness, Oligozoospe...	ORPHA:8
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, ...	OMIM:270400
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Long penis, Oligozoospermia	ORPHA:3000
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Foot polydactyly, Penile freckling	ORPHA:210548
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Constriction of peripheral visual field, Reduced visual acuity, Nephrocalcinosis, Perifoveal ring...	OMIM:240300
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, ...	ORPHA:464738
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne...	ORPHA:206436
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Moderate myopia, Renal hypoplasia, Amblyopia, Absence of renal corticomedullary differentiation	OMIM:619758
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu...	ORPHA:79435
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Renal hypoplasia, Micropeni...	OMIM:619321
Cerebrooculonasal Syndrome	Ventriculomegaly, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, Narrow palate...	OMIM:605627
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Small for gestational age, Hyperg...	OMIM:227650
Townes-Brocks Syndrome 1	Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger ...	OMIM:107480
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease...	OMIM:617527
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,...	ORPHA:485
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Tapered finger, High, narrow palate, Wide mouth, Gray ...	OMIM:619312
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Ulnar deviation of the hand, Tented upper lip vermi...	OMIM:615546
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Intrauteri...	ORPHA:2075
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Cryptorchidism, Obesity, Re...	ORPHA:261494
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Neurogenic bladder, Constriction of peripheral visual field, Reduced visual ac...	OMIM:618527
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Patent ductus arteriosus,...	OMIM:306955
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Albinism, Ocular, Type I	Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia	OMIM:300500
Hyper-Igd Syndrome	Optic disc pallor, Splenomegaly, Nyctalopia, Hepatosplenomegaly, Renal angiomyolipoma, Rod-cone d...	OMIM:260920
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria	ORPHA:91138
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Cerebrofacioarticular Syndrome	Syndactyly, Irregular dentition, Anal stenosis, Narrow mouth, Dysplastic corpus callosum, Anterio...	ORPHA:314679
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Lateral ventricle dilatation, Tented upper lip vermilion, Partial agene...	OMIM:619517
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Patent ductus arte...	ORPHA:488618
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Choroidal neovascularization, Renal interstitial edema, Sterile pyur...	ORPHA:91500
Pheochromocytoma	Hypertensive retinopathy, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Palmoplantar hyperkeratosis	ORPHA:2364
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Hematuria, Growth delay, Nephritis	OMIM:614034
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Periven...	ORPHA:434179
Juvenile Nephropathic Cystinosis	Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas...	ORPHA:411634
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Abnormal morphology of the radius, Renal agenesis, Ap...	ORPHA:2538
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Cleft palate, Lissencephaly, High palate, ...	OMIM:616038
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Decreased nerve conduction velocity, Visual loss, Corpus callos...	OMIM:261515
Koolen-De Vries Syndrome	Cleft upper lip, Cryptorchidism, Pyloric stenosis, Hypotrophy of the small hand muscles, Hip disl...	OMIM:610443
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Proximal muscle weakness in upper limbs, Scapular winging, Facial palsy, Elbow flexion contractur...	ORPHA:206549
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu...	OMIM:257300
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Wide mouth, Thick vermilion border	ORPHA:85290
Cystic Echinococcosis	Hepatomegaly, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Gm1 Gangliosidosis Type 1	Blindness, Diffuse cerebral atrophy, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Inc...	ORPHA:79255
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Myopia, Cerebral visual impairment, Hypercalciuria, Renal cyst, Hypermetropia...	ORPHA:369837
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Dworschak-Punetha Neurodevelopmental Syndrome	Microdontia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Distal Deletion 15Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Micropenis, M...	ORPHA:1596
Orofaciodigital Syndrome Type 1	Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto...	ORPHA:2750
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Dea...	ORPHA:534
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Optic atrophy, Hematuria	ORPHA:761
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Periventricular heterotopia	ORPHA:255138
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Tay-Sachs Disease	Cherry red spot of the macula, Blindness	OMIM:272800
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retar...	ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Cryptorchidism, Proximal renal tubular acidosis, Intrauterine growth retar...	OMIM:615824
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Patent ductus arteriosus, Abnor...	ORPHA:86818
Man1B1-Cdg	Eclabion, Thin upper lip vermilion, Periventricular heterotopia, 2-3 toe syndactyly, Thick vermil...	ORPHA:397941
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndro...	ORPHA:263455
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ...	ORPHA:99885
Gm1 Gangliosidosis	Blindness, Abnormal retinal vascular morphology, Splenomegaly, Optic atrophy, Retinopathy of prem...	ORPHA:354
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Kinsship Syndrome	Thin upper lip vermilion, Ventriculomegaly, Single transverse palmar crease, Coxa valga, Thick lo...	OMIM:619297
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Cryptorchidism, P...	ORPHA:85201
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Preaxial hand polydactyly, Intrauter...	ORPHA:1297
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Cerebral cortical atroph...	OMIM:248500
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria	OMIM:602199
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu...	ORPHA:263479
Johnson Neuroectodermal Syndrome	Severe short stature, Facial palsy, Preaxial hand polydactyly, Hand polydactyly, Hypogonadism, Fa...	ORPHA:2316
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Talipes equinovarus, Tongue fasciculations	OMIM:607596
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Cerebellar atrophy, Death in childhood, Mild proteinuria	OMIM:619685
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Splenomegaly, Short to...	OMIM:269860
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph...	ORPHA:183
Malan Overgrowth Syndrome	Slender long bone, Lateral ventricle dilatation, High palate, Narrow mouth, Ventriculomegaly	ORPHA:420179
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Small for gestational age, Short stature, Patent ductus arteriosus...	OMIM:619869
Microphthalmia, Syndromic 11	Agenesis of corpus callosum, Cleft palate, Cleft upper lip	OMIM:614402
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Visual impairment,...	ORPHA:2822
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p...	OMIM:617895
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy	ORPHA:412057
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Myopia, Blindness, Bladder diverticulum, Decreased urinary lysyl-pyridinoline...	OMIM:225400
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria	ORPHA:36412
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly	OMIM:617397
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, El...	ORPHA:99776
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren...	ORPHA:538
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Camptodactyly of finger, Short hallux, Apl...	ORPHA:2710
6Q Terminal Deletion Syndrome	Hallux valgus, Periventricular heterotopia, High, narrow palate, Abnormality of neuronal migratio...	ORPHA:75857
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, ...	OMIM:616975
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries	ORPHA:137675
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypermetropia, Renal dysplasia, Renal cyst	OMIM:617260
Pseudo-Torch Syndrome 3	Death in infancy, Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Abnormal femur mo...	ORPHA:324
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Spinocerebellar atrophy, Blindness, Optic atrophy	ORPHA:95433
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Neurocutaneous Melanocytosis	Ventriculomegaly, Abnormality of neuronal migration, Dandy-Walker malformation	ORPHA:2481
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Tented upper lip vermilion, Periventricular heterotopia, Metaphyseal widening, ...	OMIM:618476
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Large for gestational a...	OMIM:229850
Caroli Syndrome	Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal s...	OMIM:254900
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Hepatomegaly, Nyctalopia	ORPHA:79301
Fragile X Syndrome	Macroorchidism, postpubertal, Metacarpophalangeal joint hyperextensibility, Congenital macroorchi...	OMIM:300624
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ...	ORPHA:79240
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Abnormal chorioreti...	ORPHA:564
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Arachnodactyly, Dental crowding, Coxa valga, Elbow dislocation, Cryptorchidism, Metaphyseal widen...	OMIM:620083
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma...	ORPHA:637
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Finger syndactyly, Multicystic kidney dysplasia...	ORPHA:818
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atro...	ORPHA:2785
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global brain atro...	OMIM:234200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Dysmenorrhea, Splenomegaly, Irregular menstruation, Increased body w...	ORPHA:264580
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Proteinuria, Short stature, Bowing of the legs, Hypoplastic ilia, Chronic ...	ORPHA:1855
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:616034
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Decreased pyruvate carboxylase activity, Visual field defec...	OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Blindness, Cerebellar atrophy, Hypospadias, He...	OMIM:252010
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Blindness	ORPHA:853
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cerebral cort...	ORPHA:231178
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Visual impairment, Hypospadias, Optic nerve hypoplasia, Renal cyst	ORPHA:495875
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo...	ORPHA:33001
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Optic atrophy, Cerebral atrophy, Neurodegeneration, Myoglobinuria	OMIM:616878
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Reduced visual acuity	OMIM:216820
Distal Deletion 10Q	Smooth philtrum, Thin upper lip vermilion, Scapular winging, Sandal gap, Single transverse palmar...	ORPHA:96148
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis	OMIM:231530
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Cho...	ORPHA:2556
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Hepatomegaly, Scotoma, Cardiomegaly, Nyctalopia, ...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Open mouth, Polymicrogyria, Lateral ventricle dilatation	OMIM:617751
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Ectopic kidney, Absent radius, Preaxial h...	ORPHA:233
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Simplified gyral patter...	ORPHA:300570
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Microphthalmia, Isolated, With Coloboma 9	Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment	OMIM:615145
Aymé-Gripp Syndrome	Proteinuria, Short stature, Rocker bottom foot, Tapered finger, Postnatal growth retardation, Cry...	ORPHA:1272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatation, Joint contra...	OMIM:618914
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand polydacty...	OMIM:236680
Axenfeld-Rieger Syndrome, Type 2	Blindness, Hypospadias	OMIM:601499
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Paganini-Miozzo Syndrome	Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border	OMIM:301025
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metap...	ORPHA:508533
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Reti...	ORPHA:900
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p...	OMIM:302960
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Long philtrum, Open mouth	OMIM:617854
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Pagod Syndrome	Multicystic kidney dysplasia, Optic atrophy, Renal hypoplasia/aplasia	ORPHA:991
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Renal agenesis, Broad hallux, Absent radius, Coronal hypospadias, Short t...	OMIM:149730
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Trisomy 10P	Thumb contracture, Small for gestational age, Abnormality of the kidney, Abnormal auditory evoked...	ORPHA:171929
Fryns Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Cerebral cortical atrophy, Vesi...	ORPHA:2059
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Long penis, Nephrocalcinosis, Severe postnatal growth retardatio...	ORPHA:769
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Gray matter heterotopia, Narrow mouth, Thick upper lip vermilion, Brac...	OMIM:608624
Glycogen Storage Disease Due To Aldolase A Deficiency	Growth delay, Myoglobinuria, Acute kidney injury	ORPHA:57
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Camptodactyly of fing...	ORPHA:1606
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Short humerus, Abnormal mitochondrial shape, Hypospadias, Short femur, Patent ductu...	ORPHA:17
Tay-Sachs Disease	Cerebellar atrophy, Blindness, Optic atrophy, Hepatosplenomegaly, Cherry red spot of the macula, ...	ORPHA:845
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, High palate, Brachydactyly	OMIM:619995
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Abnormal optic chiasm morphology, Recurrent urinary tract infections, Retinal deta...	ORPHA:268261
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Cryptorchidism, Ulnar bowing, Shortening of all...	OMIM:619135
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Holoprosencephaly	Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Cryptorchidism, Optic atrophy, Ab...	ORPHA:2162
Meningioma	Papilledema, Bitemporal hemianopia, Blindness, Urinary incontinence, Facial palsy, Slow decrease ...	ORPHA:2495
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Trichothiodystrophy	Myopia, Defective DNA repair after ultraviolet radiation damage, Photophobia, Macular degeneratio...	ORPHA:33364
Chiari Malformation Type Ii	Gray matter heterotopia, Hydrocephalus, Agenesis of corpus callosum	OMIM:207950
Periventricular Nodular Heterotopia	Pyloric stenosis, Shoulder dislocation, Periventricular heterotopia	ORPHA:98892
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, 2-3...	OMIM:618280
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h...	ORPHA:1120
Culler-Jones Syndrome	Cryptorchidism, Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Osteootohepatoenteric Syndrome	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral reflux,...	OMIM:619377
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hydroce...	OMIM:109400
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy	ORPHA:276183
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Scapular winging, Exercise-induced myoglobinuria	ORPHA:352479
Behçet Disease	Glomerulopathy, Renal insufficiency, Blindness, Retrobulbar optic neuritis, Splenomegaly, Photoph...	ORPHA:117
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Periventricular heterotopia, Cryptorchidism, High palate, Short philtru...	OMIM:618929
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Choroid plexus cyst, Deep palmar crease, Lateral ventricle dilatation, Short p...	ORPHA:293725
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, Stage 5 chronic...	OMIM:614099
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Cryptorchidism, Delayed epiphyseal ossific...	OMIM:101200
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Hypospadias, Abnormality of the kidney, Short hallux, Arachnodactyly, Cr...	ORPHA:280
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Noonan Syndrome 14	Scapular winging, Cryptorchidism, High, narrow palate, Wide mouth, Deep palmar crease, Lateral ve...	OMIM:619745
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Proteinuria, Short stature, Sandal gap, Decreased fibular diameter, Postnatal growt...	OMIM:619127
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Hepatomegaly...	ORPHA:580
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Dental malocclusion, Cleft pa...	OMIM:616580
Meier-Gorlin Syndrome 7	Urethral stricture, 2-4 finger syndactyly, Hypospadias, Short stature, Bowing of the legs, Aplasi...	OMIM:617063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinur...	OMIM:201475
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum...	ORPHA:3186
Halperin-Birk Syndrome	Hip dislocation, Colpocephaly, High palate, Thick vermilion border, Talipes equinovarus, Agenesis...	OMIM:618651
Wilson Disease	Hepatomegaly, Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Splenomegaly, ...	OMIM:277900
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, ...	ORPHA:1507
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Short stature, Facial palsy, Arachnodactyly, Patent ductus arterios...	OMIM:300373
Momo Syndrome	Blindness, Chorioretinal coloboma	ORPHA:2563
Wagro Syndrome	Decreased testicular size, Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Penile Agenesis	Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren...	ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ...	OMIM:309000
Aicardi Syndrome	Proximal placement of thumb, Cleft upper lip, Hiatus hernia, Dilated third ventricle, Partial age...	OMIM:304050
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Obesity, Hand polydactyly	ORPHA:261197
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce...	ORPHA:77301
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Adnp Syndrome	Thin upper lip vermilion, Ventriculomegaly, Broad hallux, Single transverse palmar crease, Sandal...	ORPHA:404448
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate	OMIM:243440
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Chordee, Micropenis	OMIM:300519
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Werner Syndrome	Retinal degeneration	OMIM:277700
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Abnormality of the per...	ORPHA:48435
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Optic atrophy, High myopia, Urinary retention, Nephroblastoma	ORPHA:97297
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria...	ORPHA:99845
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Lateral ve...	OMIM:619479
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Renal insufficiency, Proteinuria, Abnormality o...	ORPHA:90291
Agel Amyloidosis	Facial palsy, Proteinuria, Stage 5 chronic kidney disease, Orthostatic hypotension due to autonom...	ORPHA:85448
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Cryptococcosis	Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor...	ORPHA:1546
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M...	OMIM:118400
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Broad hallux phalanx, Short stature, Finger synda...	ORPHA:2308
Papa Syndrome	Proteinuria	ORPHA:69126
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Overlapping toe, Carious teeth, Small hand, Alveolar ridge overgrowth, ...	ORPHA:177907
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Asparagine Synthetase Deficiency	Blindness, Caudate atrophy, Optic nerve hypoplasia, Cerebral visual impairment, Global brain atrophy	OMIM:615574
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:618736
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Classic Galactosemia	Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ...	ORPHA:79239
Hermansky-Pudlak Syndrome 6	Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp...	OMIM:614075
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ...	ORPHA:356961
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Renal agenesis, Monorchism, Micromelia, Renal hypoplasia...	ORPHA:2753
Legionnaires Disease	Hematuria, Splenomegaly, Renal insufficiency, Proteinuria	ORPHA:549
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced...	ORPHA:67036
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia	OMIM:612199
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Abnormality of the dentition, Long fingers, Cryptorchidism, Thick lowe...	OMIM:617557
Diamond-Blackfan Anemia 21	Hallux valgus, Short stature, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, O...	OMIM:620072
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Growth delay, Delayed puberty	ORPHA:77259
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Hematuria, Retinopathy	ORPHA:536
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Agenesis of corpus callosum, Colpocephaly, S...	OMIM:609053
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi...	ORPHA:904
Rift Valley Fever	Retinitis, Scotoma, Retinal hemorrhage, Reduced visual acuity, Macular edema, Retinal vasculitis,...	ORPHA:319251
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Musk, Inability To Smell	Blindness	OMIM:254150
Dysosteosclerosis	Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodactyly of the 5th finger, A...	ORPHA:744
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Abnormality of the hand	OMIM:221770
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Peters Plus Syndrome	Ureteral duplication, Micromelia, Clinodactyly of the 5th finger, Renal duplication, Multicystic ...	ORPHA:709
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, D...	OMIM:256520
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Mucoepithelial Dysplasia, Hereditary	Hematuria, Photophobia, Blindness	OMIM:158310
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri...	ORPHA:2035
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Hip dyspl...	ORPHA:457284
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Cryptorchidism, Abnorma...	ORPHA:2879
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Heparan sulfate exc...	ORPHA:217085
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Dandy-Walker malformat...	ORPHA:480880
Amoebiasis Due To Free-Living Amoebae	Blindness, Facial palsy, Visual loss, Diplopia, Photophobia, Intrarenal abscess	ORPHA:68
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cryptorchidism, Gray matter heterotopia, Neonatal death, Pachygyria, Vent...	OMIM:620024
Cog5-Cdg	Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger clinodactyly, Lateral ventricle dila...	ORPHA:263487
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Overlapping toe, ...	ORPHA:798
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi...	ORPHA:373
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Visual impairment, Retinal degeneration	OMIM:618479
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu...	OMIM:614077
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology	OMIM:274150
Gaucher Disease	Death in infancy, Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hematuria, Delayed pube...	ORPHA:355
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Heparan sulfate exc...	ORPHA:217093
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, High palate	ORPHA:1493
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Talipes equinovarus	OMIM:256850
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Vesicoureteral reflux, Clinodactyly...	ORPHA:199
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:352665
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ...	ORPHA:125
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Tapered finger, Abnormality of canine, Short thumb, Cryptorchidism, Col...	ORPHA:477993
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Ventriculomegaly, Camptodactyly of finger, Periventricular heterotopia, Pa...	ORPHA:468631
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Cerebral cortica...	ORPHA:2177
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Sandal gap, Carious teeth, Smal...	OMIM:619229
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Failure to thrive in infancy, Sho...	ORPHA:1308
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Hypoplasia of penis, Blindness, Amblyopia	ORPHA:2250
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:91349
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Retinal dystrophy, Sin...	OMIM:607932
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Epispadias, Short metatarsal, Micropenis, Ovarian serous cystadenoma, P...	ORPHA:1772
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Increased...	ORPHA:2298
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Distal upper limb muscle weakness	OMIM:620138
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd...	OMIM:301022
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Syndactyly, Rhizomelia, Short stature, Splenomegaly, Postaxial...	OMIM:613610
Legius Syndrome	Short stature, Nephrolithiasis, Diaphyseal dysplasia, Vestibular schwannoma, Male urethral meatus...	ORPHA:137605
Holoprosencephaly 9	Abnormal cortical gyration, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, Agenesis...	OMIM:610829
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia...	ORPHA:98973
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gray matter heterotopia, Gingival overgrowth, Protruding tongue	OMIM:618797
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Ectopic kidney, Postna...	OMIM:117650
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Degcags Syndrome	Bilateral renal hypoplasia, Hepatomegaly, Syndactyly, Hypospadias, Cryptorchidism, Abnormal renal...	OMIM:619488
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Abnormal chorioretinal...	ORPHA:3310
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Short phi...	OMIM:617296
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Myoglobinuria, Red-brown urine	ORPHA:228305
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Ulnar deviation of the hand, Arachnodactyly, Dental crowding, Intestina...	OMIM:615485
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ...	OMIM:180849
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala...	ORPHA:457279
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Abnormal autonomic nervous system physiology, Myoglobinuria, A...	ORPHA:94093
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Optic atrophy, Obesity, Hypogonadism, Moderate albuminuria	OMIM:614231
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou...	ORPHA:2965
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti...	ORPHA:340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal dege...	OMIM:253280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Cleft palate, Furrowed tongue, Downturned corners of mouth, Gray matter heterotop...	ORPHA:453499
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Facial palsy, Single transverse palmar crease, Postnatal growth reta...	OMIM:113620
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight	ORPHA:244242
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil...	ORPHA:90793
Pure Mitochondrial Myopathy	Scapular winging, Shoulder girdle muscle weakness, Recurrent myoglobinuria	ORPHA:254854
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age...	OMIM:308205
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Robinow Syndrome	Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Small for gestational age, Short stature...	ORPHA:97360
Osteoporosis-Pseudoglioma Syndrome	Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness	OMIM:259770
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Pachygyria, Agyria	ORPHA:2148
Familial Mediterranean Fever	Proteinuria, Orchitis, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy	ORPHA:342
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Jejunal atresia, Ileal atresia, Cryptorchidism, Dysplastic corpus callosum, Gray matt...	OMIM:618820
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, De...	OMIM:232240
Gm2-Gangliosidosis, Ab Variant	Blindness, Neurodegeneration, Cerebral atrophy	OMIM:272750
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu...	ORPHA:358
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Bilateral cryptorchidism, Celiac disease, Dysplastic corpus callosum...	ORPHA:544488
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Colpocephaly, Solitary median maxill...	OMIM:301043
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Nyctalopia, V...	OMIM:252940
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pelvis bone oss...	ORPHA:93271
Lambotte Syndrome	Intrauterine growth retardation, Preaxial foot polydactyly	OMIM:245552
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Hajdu-Cheney Syndrome	Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Short stature, Bo...	ORPHA:955
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Open mouth, Lateral ventricle dilatation, Cryptorchidism	ORPHA:565624
Farber Disease	Macular degeneration, Cherry red spot of the macula, Brain atrophy, Hepatosplenomegaly	ORPHA:333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, Constriction of peripheral visual field, Macular atrophy, Splenomegaly, Nyctalopia	OMIM:619418
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Clinodactyly of the 5th finger, In...	ORPHA:1393
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,...	ORPHA:79432
Renpenning Syndrome 1	Blindness, Hypospadias, Phimosis, Renal hypoplasia, Hypermetropia, Cerebral atrophy	OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Shoulder girdle muscle weakness, Exercise-induced myoglobinuria	OMIM:607155
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Periventri...	OMIM:606170
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Clubbing, Rod-cone dystrophy, Abnormal sperm motility	ORPHA:244
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa...	OMIM:203100
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Vesicoureteral reflux, Syndactyly, Hypospadias, Abnormality of the kidney, Short stature, Broad h...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Vesicoureteral reflux, Syndactyly, Hypospadias, Abnormality of the kidney, Short stature, Broad h...	ORPHA:353277
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Gray matter heterot...	OMIM:242840
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Wolf-Hirschhorn Syndrome	Small for gestational age, Hypospadias, Short stature, Single transverse palmar crease, Short hal...	OMIM:194190
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ...	ORPHA:79098
Gaucher Disease, Type I	Splenomegaly, Hepatomegaly, Macular atrophy	OMIM:230800
Pallister-Hall Syndrome	Ectopic kidney, Large for gestational age, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypo...	ORPHA:672
Mosaic Variegated Aneuploidy Syndrome	Abnormality of vision, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
X-Linked Cerebral Adrenoleukodystrophy	Blindness, Reduced visual acuity, Global brain atrophy	ORPHA:139396
Fontaine Progeroid Syndrome	Syndactyly, Thin upper lip vermilion, Periventricular heterotopia, Protruding tongue, Cryptorchid...	OMIM:612289
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Gaucher Disease Type 3	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Growth delay, Delayed puberty	ORPHA:77261
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Blindness, Renal hypoplasia, Uret...	ORPHA:2052
Rodrigues Blindness	Blindness	OMIM:268320
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colpocephal...	OMIM:309801
Acquired Generalized Lipodystrophy	Hepatomegaly, Proteinuria, Polycystic ovaries	ORPHA:79086
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Glycosuria, Retinal degeneration, Renal neoplasm	ORPHA:79474
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Short stature	ORPHA:79113
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Ve...	ORPHA:572798
Alg11-Cdg	Gray matter heterotopia, Long philtrum	ORPHA:280071
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Pat...	OMIM:617088
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria	ORPHA:2239
Acromelic Frontonasal Dysplasia	Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo...	ORPHA:1827
Sarcoidosis	Hepatomegaly, Renal insufficiency, Blindness, Facial palsy, Nephrolithiasis, Hypercalciuria, Neph...	ORPHA:797
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury	ORPHA:90068
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Fraser Syndrome 1	Blindness, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Micropenis	OMIM:219000
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Splenomegaly, Hemoglobinuria, Delayed puberty	OMIM:611881
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Proteinuria, Cryptorchidism, Patent ductus arteriosus, Clinodactyly of the 5th f...	OMIM:616682
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Impote...	ORPHA:447
Microphthalmia, Syndromic 1	Blindness, Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic disc ...	OMIM:309800
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment	ORPHA:828
Mandibulofacial Dysostosis, Guion-Almeida Type	Preaxial hand polydactyly, Short stature, Slender finger, Proximal placement of thumb	OMIM:610536
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop...	ORPHA:251510
Mowat-Wilson Syndrome	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:2152
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Dpagt1-Cdg	Hepatomegaly, Nyctalopia, Optic atrophy, Diffuse optic disc pallor, Rod-cone dystrophy, Cerebral ...	ORPHA:86309
Mccune-Albright Syndrome	Blindness	OMIM:174800
17Q11 Microdeletion Syndrome	Blindness, Retinal vascular proliferation, Renovascular hypertension, Renal artery stenosis, Abno...	ORPHA:97685
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Hepatoerythropoietic Porphyria	Blindness, Splenomegaly, Red urine, Red-brown urine, Purple urine	ORPHA:95159
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:261537
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Proteinuria, Orchitis, Splenomegaly, Retinal hemorrhage, Hematuria	ORPHA:99827
Partial Androgen Insensitivity Syndrome	Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias...	ORPHA:90797
Pineoblastoma	Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f...	ORPHA:251909
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o...	ORPHA:91347
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal...	OMIM:601707
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Blindness, Dysuria, Visual loss, Renal tubular epithelial necrosis, He...	ORPHA:95455
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce...	OMIM:233450
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Pituitary dwarfism, Hypogonadotropic hypogonadism, Optic nerve hypoplasia,...	ORPHA:95494
Norrie Disease	Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula...	ORPHA:649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hemoglobinuria, Hepatomegaly	OMIM:194380
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Hepatomegaly, Renal insufficiency, Failure to thrive, Short stature, Syndactyly, Post...	OMIM:619534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:261552
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Abnormality of neuronal migration, Cleft pal...	ORPHA:647
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Relapsing Polychondritis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:728
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Pachygyria, Agenesis of corpus call...	OMIM:607872
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Noonan Syndrome 1	Male infertility, Failure to thrive in infancy, Hypospadias, Short stature, Postnatal growth reta...	OMIM:163950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Hemoglobinuria	OMIM:300908
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Pierre-Robin sequence, Elbow flexion contracture, Broad palm, Gingival overgrowt...	OMIM:300868
Congenital Erythropoietic Porphyria	Blindness, Splenomegaly, Red-brown urine, Porphyrinuria, Increased urinary porphobilinogen, Purpl...	ORPHA:79277
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Photophobia, Micropenis, Hepatomegal...	ORPHA:64
Choanal Atresia	Polydactyly	ORPHA:137914
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the small intestine, Ad...	OMIM:276300
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Gingival overgrowth, Lateral ventricle dilatation, High palate, Short...	OMIM:614098
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, Short philtrum, Dilated third v...	OMIM:619575
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Okamoto Syndrome	Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe postnatal growth retardat...	ORPHA:2729
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Rod-cone dystrophy, Long fingers, Nephrotic syndrome,...	ORPHA:79318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Ventriculomegaly, Arachnodactyly, Absent thumb, Dysplastic corpus c...	ORPHA:500150
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Scalp-Ear-Nipple Syndrome	Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Agenesis of permanent tee...	OMIM:181270
Kabuki Syndrome 1	Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Abnormality of the dentition, ...	OMIM:147920
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Renal cyst, Camptodactyly of 2nd-5th...	OMIM:601803
Weill-Marchesani Syndrome 2	Blindness, High myopia	OMIM:608328
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty	ORPHA:99429
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Infection-Related Hemolytic Uremic Syndrome	Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output	ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iim	Exaggerated cupid's bow, Lateral ventricle dilatation, Fused teeth, High palate, Short philtrum, ...	OMIM:300896
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Leprosy	Blindness, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology	ORPHA:548
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Kawasaki Disease	Proteinuria, Sterile pyuria	ORPHA:2331
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Lateral ventricle dilatation, Short femur, Tapered finger	OMIM:618367
Cystic Fibrosis	Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly, Clubbing of fingers, Failure ...	OMIM:219700
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,...	OMIM:619525
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Amblyopia, Vesicoureteral reflux, U...	OMIM:164210
Menke-Hennekam Syndrome 1	Blindness, Hypermetropia	OMIM:618332

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sdccag8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sdccag8.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.	Zoological research (May 2022)	Sdccag8^{tm1e(EUCOMM)Wtsi}	PMC9113982
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.	Genes (November 2021)	Sdccag8^{tm1a(EUCOMM)Wtsi}	PMC8623546
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.	PloS one (February 2018)	Sdccag8^{tm1e(EUCOMM)Wtsi}	PMC5812623
SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex.	Neuron (July 2014)	Sdccag8^{tm1e(EUCOMM)Wtsi}	PMC4141904

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sdccag8^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sdccag8^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us