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Gene: Kirrel1 MGI:1891396

Gene Summary

Name:

kirre like nephrin family adhesion molecule 1

Synonyms:

Kirrel1, Kirrel, 6720469N11Rik, Neph1

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Kirrel1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta vasculature	Kirrel1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal retina blood vessel morphology	Kirrel1^em1(IMPC)Mbp	HET	Early adult	7.03×10^-05
embryonic growth retardation	Kirrel1^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Kirrel1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal retina vasculature morphology	Kirrel1^em1(IMPC)Mbp	HET	Early adult	2.67×10^-05
abnormal placenta morphology	Kirrel1^em1(IMPC)Mbp	HOM	E15.5	0.00
eye hemorrhage	Kirrel1^em1(IMPC)Mbp	HET	Early adult	1.83×10^-05
abnormal placenta morphology	Kirrel1^em1(IMPC)Mbp	HET	E15.5	0.00
microphthalmia	Kirrel1^em1(IMPC)Mbp	HET	E15.5	0.00
embryonic growth retardation	Kirrel1^em1(IMPC)Mbp	HET	E15.5	0.00
persistence of hyaloid vascular system	Kirrel1^em1(IMPC)Mbp	HET	Early adult	5.77×10^-06

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

12 Images

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Human diseases caused by Kirrel1 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 Kirrel1 (1 diseases)
Human diseases predicted to be associated with Kirrel1 (1001 diseases)

The table below shows human diseases associated to Kirrel1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephrotic Syndrome, Type 23		Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201

The table below shows human diseases predicted to be associated to Kirrel1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
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
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po...	OMIM:193235
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Nanophthalmos	Microphthalmia	ORPHA:35612
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Nanophthalmos 4	Microphthalmia	OMIM:615972
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag...	OMIM:611773
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma	OMIM:221900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria	OMIM:602199
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
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
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Preeclampsia	Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney	ORPHA:275555
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
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
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail...	OMIM:264800
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuri...	OMIM:613404
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Fanconi Anemia, Complementation Group O	Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis	OMIM:613390
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Joubert Syndrome 20	Renal cyst	OMIM:614970
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Proteinuria, Hematuria, Tubulointerstitial nephritis, Death in childhood	OMIM:616901
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Mmep Syndrome	Microphthalmia	ORPHA:3434
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis	OMIM:102700
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c...	ORPHA:790
Phacoanaphylactic Uveitis	Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore...	ORPHA:209959
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi...	ORPHA:464329
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv...	ORPHA:509
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma	OMIM:180200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Axial Osteomalacia	Renal cyst	OMIM:109130
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar...	ORPHA:319213
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d...	OMIM:614922
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Pseudo-Torch Syndrome 3	Death in infancy, Acute kidney injury, Proteinuria	OMIM:618886
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial amyloid deposits...	ORPHA:85450
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren...	OMIM:220110
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Cryoglobulinemic Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:91138
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation	ORPHA:858
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232200
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	ORPHA:1830
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology	OMIM:274150
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Pulmonic stenosis, Supravalvar pulm...	OMIM:620185
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin	OMIM:617718
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re...	ORPHA:33001
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr...	OMIM:617303
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal cotton wool spot, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal...	OMIM:242900
Hypocomplementemic Urticarial Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:36412
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Papa Syndrome	Proteinuria	ORPHA:69126
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232220
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:77297
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Fabry Disease	Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria	OMIM:301500
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Death in childhood, Mild proteinuria	OMIM:619685
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Renal insufficiency, Mild proteinuria	OMIM:619147
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Retinal hemorrhage	ORPHA:86839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri...	ORPHA:2035
Ohdo Syndrome	Cryptorchidism, Proteinuria	OMIM:249620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer...	OMIM:232240
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism	ORPHA:110
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Abnormal retinal vascular morphology, Congestive heart fa...	ORPHA:33226
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Death in chi...	OMIM:212065
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Legionnaires Disease	Hematuria, Renal insufficiency, Proteinuria	ORPHA:549
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Death in adolescence	OMIM:610965
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Rift Valley Fever	Abnormal bleeding, Retinitis, Hematemesis, Retinal hemorrhage, Macular edema, Melena, Retinal vas...	ORPHA:319251
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Systemic Sclerosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d...	ORPHA:90291
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po...	ORPHA:314588
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis	OMIM:300519
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Wagro Syndrome	Nephroblastoma, Proteinuria, Decreased testicular size	OMIM:612469
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature	ORPHA:2505
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g...	ORPHA:505248
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Monosomy 18P	Microphthalmia, Short stature	ORPHA:1598
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral...	ORPHA:261494
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Pallister-Hall Syndrome	Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid...	OMIM:146510
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Trisomy 1Q	Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Short stature	OMIM:602361
Melas	Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis	ORPHA:550
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria	ORPHA:761
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Joubert Syndrome 14	Renal cyst	OMIM:614424
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Gaucher Disease Type 1	Hematuria, Proteinuria	ORPHA:77259
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Spondyloenchondrodysplasia	Hematuria, Chronic kidney disease, Proteinuria	ORPHA:1855
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:99880
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu...	ORPHA:358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:143
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Micropenis	OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Zellweger Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Familial Mediterranean Fever	Proteinuria, Orchitis, Nephrocalcinosis, Nephrotic syndrome, Nephropathy	ORPHA:342
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury	ORPHA:90068
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis...	ORPHA:534
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Cockayne Syndrome Type 1	Cryptorchidism, Renal insufficiency, Proteinuria	ORPHA:90321
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Granulomatosis With Polyangiitis	Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Incontinentia Pigmenti	Retinal detachment, Telangiectasia of the skin, Abnormal chorioretinal morphology, Retinal vascul...	ORPHA:464
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrocalcinosi...	ORPHA:79259
Temtamy Syndrome	Microphthalmia	OMIM:218340
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn...	ORPHA:324
Moebius Syndrome	Microphthalmia	OMIM:157900
Acquired Generalized Lipodystrophy	Proteinuria, Polycystic ovaries	ORPHA:79086
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin...	OMIM:308300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Myoglobinuria, Polycystic ovaries	ORPHA:79240
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis	ORPHA:900
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Stillbirth, Renal hypoplasia, Renal cyst	OMIM:616300
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Micropenis, Proteinuria	OMIM:619471
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria	ORPHA:48435
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Renal cortical microcysts	OMIM:614866
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Hyd...	ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Genitopatellar Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Renal tubular acidosis, Myoglobinuria, Polycystic ovaries	ORPHA:264580
Neuroleptic Malignant Syndrome	Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence	ORPHA:94093
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid...	OMIM:276700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464311
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Insulin-Resistance Syndrome Type B	Proteinuria, Enlarged polycystic ovaries, Polycystic ovaries, Glycosuria, Nephritis	ORPHA:2298
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Trichinellosis	Abnormal optic nerve morphology, Retinal hemorrhage, Central retinal artery occlusion	ORPHA:863
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis	ORPHA:2059
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Relapsing Polychondritis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:728
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Hyphema, Retinal coloboma, Pulmonic stenosis, Aortic valve stenosis, Iris coloboma	ORPHA:261552
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464306
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:603467
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, C...	ORPHA:90324
Refsum Disease	Microphthalmia	ORPHA:773
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria	OMIM:619127
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Cryptorchidism, Renal cyst, Stillbirth, Hydron...	OMIM:229850
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Holoprosencephaly	Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system, Proteinuria	ORPHA:2162
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Cockayne Syndrome B	Renal insufficiency, Micropenis, Proteinuria, Death in childhood	OMIM:133540
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Short-Rib Thoracic Dysplasia 12	Neonatal death, Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Aymé-Gripp Syndrome	Cryptorchidism, Proteinuria	ORPHA:1272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Hajdu-Cheney Syndrome	Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Cockayne Syndrome A	Renal insufficiency, Micropenis, Proteinuria, Cryptorchidism	OMIM:216400
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir...	ORPHA:637
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Infection-Related Hemolytic Uremic Syndrome	Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output	ORPHA:544482
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn...	ORPHA:2044
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro...	ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Cryptorchidism, Hypospadias, Renal cyst	OMIM:616975
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Williams Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Crypto...	ORPHA:904
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ...	OMIM:601186
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Kawasaki Disease	Proteinuria, Sterile pyuria	ORPHA:2331
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Mi...	ORPHA:96149
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Gaucher Disease	Hematuria, Death in infancy, Proteinuria	ORPHA:355
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Schinzel-Giedion Syndrome	Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ...	ORPHA:798
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1052
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Pagod Syndrome	Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/aplasia	ORPHA:991
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Cranioectodermal Dysplasia 2	Renal insufficiency, Renal cyst	OMIM:613610
Autosomal Recessive Robinow Syndrome	Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Fanconi Anemia	Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr...	ORPHA:84
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hemorrhage, Ischemic stroke, Peripapi...	OMIM:175780
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Micropenis	OMIM:210710
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cryptorchidism, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul...	ORPHA:116
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro...	ORPHA:1596
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Proteinuria	OMIM:616682
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Pulmonic stenosis, Aortic valve sten...	OMIM:300166
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Ogden Syndrome	Global glomerulosclerosis, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia, Decreas...	OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine...	OMIM:256520
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria	OMIM:619525
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Robinow Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Hydronephrosis	ORPHA:97360
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphth...	ORPHA:567
Jacobsen Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hydronep...	ORPHA:1606
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:620186
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature	OMIM:227646
Myhre Syndrome	Birth length less than 3rd percentile, Microphthalmia, Short stature, Intrauterine growth retarda...	OMIM:139210
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Hajdu-Cheney Syndrome	Multiple renal cysts, Hypospadias	ORPHA:955
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Horseshoe kidney, Oligozoosp...	ORPHA:3310
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
C Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Moderate albuminuria	OMIM:614231
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron...	ORPHA:93271
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Choroidal neovascularization, Abnormal retinal artery morphology, Reti...	ORPHA:51608
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Charge Syndrome	Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra...	ORPHA:138
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	OMIM:612289
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Neuroocular Syndrome	Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2556
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ...	OMIM:305600
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,...	ORPHA:2052
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R...	OMIM:107480
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephro...	OMIM:312870
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Proteus Syndrome	Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Macroorchidism	ORPHA:744
Monosomy 9P	Microphthalmia	ORPHA:261112
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation	OMIM:236680
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Short stature	ORPHA:3472
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:613406
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Charge Syndrome	Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Umbilical hernia, Delayed ...	OMIM:214800
Branchiooculofacial Syndrome	Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Genitopatellar Syndrome	Cryptorchidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	ORPHA:672
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Hypospadias, Cryptorchidism, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia	OMIM:268300
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Pmm2-Cdg	Proteinuria, Nephrotic syndrome, Multiple renal cysts, Decreased testicular size, Abnormal renal ...	ORPHA:79318
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis...	ORPHA:261537
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt...	ORPHA:2152
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi...	OMIM:164210
Pallister-Killian Syndrome	Hypospadias, Cryptorchidism, Renal cyst, Stillbirth, Renal dysplasia	OMIM:601803
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800

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 Kirrel1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Kirrel1.

No publications found that use IMPC mice or data for Kirrel1.

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
Kirrel1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kirrel1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Kirrel1^{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

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