All individuals with variants in gene PAX2

276 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00050569 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members M - United Kingdom (Great Britain) - - - Decipher - ? renal dysplasia, optic nerve coloboma, nystagmus, gastroesophageal reflux, global developmental delay 1 1 Johan den Dunnen
00132981 29100090-FamDC3 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - CAKUT CAKUT, renal agenesis left 1 1 Johan den Dunnen
00132982 29100090-FamDC4 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father F - - - - - - - CAKUT CAKUT, renal hypoplasia bilateral, cysts; bilateral nervus opticus coloboma, atrial septum defect, obesity 1 2 Johan den Dunnen
00315054 - PubMed: Sanyanusin 1995 Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP M - - - - - - - kidney disease Bilateral optic nerve colobomas; Unilateral renal agenesis, renal failure; 7y-end stage renal disease; 7y-renal transplant 1 1 Matthew Bower
00315055 - PubMed: Sanyanusin 1995 Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP M - - - - - - - kidney disease bilateral optic nerve coloboma; Mild chronic renal failure 1 1 Matthew Bower
00315056 - PubMed: Bower 2012 Inherited from affected father (Family 32; patient 2) M - United States - - - - - kidney disease Morning glory anomaly-bilateral; bilateral renal hypoplasia; 10y-end stage renal disease 1 1 Matthew Bower
00315057 - PubMed: Bower 2012 Father of Family32;patient 1. Apparently de novo origin for this patient. - - - - - - - - kidney disease Morning glory anomaly-bilateral; renal failure 1 1 Matthew Bower
00315058 - PubMed: Cheong 2007 patient 3 in publication M - Korea - - - - - kidney disease Microphthalmia-unilateral; Optic nerve coloboma-unilateral; Renal hypoplasia-bilateral, normal VCUG; kidney renal biopsy: focal segmental glomerulosclerosis, mild mesangial hypercellularity, focal effacement of podocyte foot processes, marked atrophy of tubules, interstitial fibrosis, focal arteriosclerosis. 1 1 Matthew Bower
00315059 - PubMed: Cheong 2007 Patient 4 in publication F - Korea - - - - - kidney disease Optic nerve coloboma-bilateral; emmetropia; Renal hypoplasia-bilateral, normal VCUG; 9y-renal transplant 1 1 Matthew Bower
00315060 - PubMed: Cheong 2007 Patient 5 in publication M - Korea - - - - - kidney disease Developmental delay. Brain MRI showed enlargement of extra-axial space and delayed myelinization at 4 months.; Optic nerve coloboma-bilateral; nystagmus; esotropia-bilateral; chorioretinal degeneration; Renal hypoplasia-bilateral, echogenic kidneys-bilateral, normal VCUG 1 1 Matthew Bower
00315061 - PubMed: Cheong 2007 Sibling of Family 18; patient 1. Maternal germline mosaicism. Patient 1 in publication - - Korea - - - - - kidney disease Optic nerve coloboma-bilateral; esodeviation; retinal edema; chorioretinal degeneration; Macular telangiectases-bilateral; renal hypoplasia-bilateral, renal cyst-unilateral, normal VCUG; 13y-end stage renal disease; 15y-renal transplant 1 1 Matthew Bower
00315062 - PubMed: Cheong 2007 Sibling to Family 18; patient 1. Maternal germline mosaicism. Patient 2 in publication M - Korea - - - - - kidney disease Optic nerve coloboma-bilateral; nystagmus; bilateral renal hypoplasia 1 1 Matthew Bower
00315063 - PubMed: Amiel 2000 Patient RA in publication. - - - - - - - - kidney disease microphthalmia-bilateral; dysplastic optic nerve-unilateral; retinal degeneration; bilateral renal hypoplasia 1 1 Matthew Bower
00315064 - PubMed: Amiel 2000 Patient PE in publication. - - - - - - - - kidney disease retinal coloboma-bilateral; bilateral renal hypoplasia 1 1 Matthew Bower
00315065 - PubMed: Amiel 2000 Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient AR-II1 in publication. - - - - - - - - kidney disease Morning glory syndrome; bilateral renal hypoplasia 1 1 Matthew Bower
00315066 - PubMed: Amiel 2000 Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient AR-II2 in publication. - - - - - - - - kidney disease Papillary dysplasia-bilateral; Cystic renal hypoplasia-unilateral 1 1 Matthew Bower
00315067 - PubMed: Amiel 2000 Sibling to family 21; patients 1 &2. Paternal germline mosaicism. Patient AR-II3 in publication. - - - - - - - - kidney disease Optic nerve coloboma-bilateral; Cystic renal hypoplasia-unilateral 1 1 Matthew Bower
00315068 - PubMed: Weber 2006 Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA3 in publication. F - - - - - - - kidney disease Optic nerve coloboma-unilateral; hypoplastic optic disc-unilateral; Renal dysplasia-bilateral, renal cyst 1 1 Matthew Bower
00315069 - PubMed: Weber 2006 Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA4 in publication. F - - - - - - - kidney disease Hearing impairment; Optic disc dysplasia; Renal dysplasia-bilateral 1 1 Matthew Bower
00315070 - PubMed: Weber 2006 Patient PRA9 in original publication. M - - - - - - - kidney disease Optic nerve coloboma; optic disc dysplasia; bilateral renal hypoplasia 1 1 Matthew Bower
00315071 - PubMed: Weber 2006 Patient PAR16 in original publication. De novo with normal parental testing. F - - - - - - - kidney disease Hearing impairment; Optic nerve coloboma; Multicystic dysplastic kidneys, PUJ obstruction 1 1 Matthew Bower
00315072 - PubMed: Salomon 2001 Patient 2 in original published report. - - - - - - - - kidney disease Papillary dysplasia; thickening of papilla ; bilateral renal hypoplasia; kidney oligomeganephronia; 5.5y-end stage renal disease 1 1 Matthew Bower
00315073 - PubMed: Salomon 2001 Patient 3 in original published report. de novo with normal parental sequencing. - - - - - - - - kidney disease Optic nerve coloboma-bilateral; bilateral renal hypoplasia; kidney oligomeganephronia; 7y-end stage renal disease 1 1 Matthew Bower
00315074 - PubMed: Schimmenti 1997 Mother of family 27;patient 2. Unknown origin. Patient 656 in original report. F - - - - - - - kidney disease soft skin; Optic disc hyopoplasia-bilateral; bilateral opacities of anterior and posterior lens capsule.; bilateral renal hypoplasia; 24y-end stage renal disease 1 1 Matthew Bower
00315075 - PubMed: Schimmenti 1997 Child of family 27;patient 1. Patient 657 in original published report. - - - - - - - - kidney disease Soft skin; 46,XY karyotype; Esotropia; exophthalmos; Absent optic nerve head-unilateral; bilateral renal hypoplasia; developmental delay; microcephaly; 14y-renal transplant 1 1 Matthew Bower
00315076 - PubMed: Weber 2006 Father of Family 22; patients 1 and 2. Did not come to clinical attention until diagnosis in daughters. Normal ophthalmological exam. M - - - - - - - kidney disease no eye anomalies; Renal hypodysplasia-bilateral 1 1 Matthew Bower
00315077 - PubMed: Schimmenti 1997 Patient 2646 in original published report F - - - - - - - kidney disease Hypoplastic superior ear helices; upslanting palpebral fissures; bulbous nose; hyperplastic gingiva. Hearing loss (unilateral). 46,XX karyotype.; Optic nerve coloboma-bilateral; amblyopia; bilateral renal hypoplasia; focal segmental glomerulosclerosis; 18y-renal transplant 1 1 Matthew Bower
00315078 - PubMed: Schimmenti 1999 Patient 8691 in original report. F - United States African American - - - - kidney disease Soft skin; hyperelasticity; gingival hyperplasia.; Optic nerve coloboma-bilateral; Abnormal retinal pigment epithelium; Renal hypoplasia-bilateral, Echogenic kidneys, Poor corticomedullary differentiation; Chiari malformation type 1; prenatal oligohydramnios, breech presentation.; 3y-renal transplant 1 1 Matthew Bower
00315079 - PubMed: Bower 2012 Sibling to Family 10; patient 2. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. F - - - - - - - kidney disease Morning glory anomaly-bilateral; Renal insufficiency, renal hypoplasia 1 1 Matthew Bower
00315080 - PubMed: Bower 2012 Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. M - - - - - - - kidney disease Bilateral morning glory anomaly; no kidney problems 1 1 Matthew Bower
00315081 - PubMed: Bower 2012 de novo with normal parental sequencing. M - - - - - - - kidney disease Asymmetric growth retardation.; Optic nerve coloboma (left); Morning glory optic disc (right); Proptosis due to cystic coloboma (left); Bilateral cystic kidneys, bilateral renal dysplasia; axial and peripheral hypotonia; global developmental delay; prenatal oligohydramnios, polycystic kidneys, renal dysplasia noted on 2nd trimester ultrasound; 35w-delivery 1 1 Matthew Bower
00315082 - PubMed: Bower 2012 de novo with normal parental sequencing. M - - - - - - - kidney disease Enlarged optic disc-bilateral; Abnormal retinal pigmentation; Multicystic dysplastic kidneys-unilateral, UPJ obstruction-unilateral; prenatal 18w ultrasound right multicystic dysplastic kidney, left hydronephrosis 1 1 Matthew Bower
00315083 - PubMed: Bower 2012 De novo with normal parental sequencing. M - - - - - - - kidney disease Optic nerve coloboma-bilateral; bilateral renal hypoplasia 1 1 Matthew Bower
00315084 - PubMed: Tagami 2010 - - - Japan - - - - - kidney disease Pulmonary hypoplasia secondary to Potter sequence.; Enlarged optic disc-unilateral; excavated optic disc-unilateral; optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal oligohydramnios, potter sequence; 1m-end stage renal disease 1 1 Matthew Bower
00315085 - PubMed: Bower 2012 Offspring of Family 31; patient 2. - - - - - - - - ? Fetal demise.; bilateral renal hypoplasia; kidney dilated collecting duct system, dilated tubules-bilateral; prenatal 18w-anhydramnios 1 1 Matthew Bower
00315086 - PubMed: Bower 2012 Paternal half niece to family 31; patients 1&2. F - - - - - - - kidney disease bilateral renal hypoplasia; 19y-end stage renal disease 1 1 Matthew Bower
00315087 - PubMed: Porteous 2000 Patient X2003 in original report. M - Japan - - - - - kidney disease cryptorchidism; Optic nerve coloboma-bilateral; retinal detachment; Renal hypoplasia-bilateral, multicystic kidneys, ; 13y-end stage renal disease 1 1 Matthew Bower
00315088 - PubMed: Beby 2010 - F - - - - - - - kidney disease joint laxity; mental retardation; seizures; Optic nerve coloboma-bilateral; Posterior lens luxation; calcified keratopathy; Renal hypoplasia-bilateral, Vesicoureteral reflux 1 1 Matthew Bower
00315089 - PubMed: Chung 2001 De novo with normal Allele specific oligonucleotide test in parents. F - - - - - - - kidney disease Umbilical hernia; inguinal hernia; Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal tubular acidosis; 5y-end stage renal disease; 7y-renal transplant 1 1 Matthew Bower
00315090 - PubMed: Cunliffe 1998 Patient 985 in original published report. M - Netherlands - - - - - kidney disease Optic nerve coloboma-bilateral; Cystic dysplastic kidney-unilateral, VUR grade II-III-unilateral 1 1 Matthew Bower
00315091 - PubMed: Negrisolo 2010 De novo with normal parental sequencing. F - - - - - - - kidney disease Sensorineural hearing loss-bilateral; Myopia; isotropy; Renal hypodysplasia-bilateral, reflux nepropathy 1 1 Matthew Bower
00315092 - PubMed: Thomas 2011 Noted as c.69_70insC in original manuscript. M - - - - - - - kidney disease renal hypodysplasia 1 1 Matthew Bower
00315093 - PubMed: Thomas 2011 - F - - - - - - - kidney disease renal hypodysplasia 1 1 Matthew Bower
00315094 - {PMID:Schimmenti 1999} Daughter of family 8; patient 2. Patient 12961 in original published report. F - - white - - - - kidney disease 4th and 5th digit clinodactyly; Optic nerve coloboma-bilateral; nystagmus; esotropia; vesicoureteral reflux 1 1 Matthew Bower
00315095 - PubMed: Schimmenti 1999 Mother of family 8; patient 1. Patient 12962 in original published report. F - - white - - - - kidney disease bilateral optic nerve coloboma; Renal cysts 1 1 Matthew Bower
00315096 - PubMed: Amiel 2000 Normal sequencing in mother; father unavailable for analysis. - - - - - - - - kidney disease Optic nerve coloboma-bilateral; bilateral renal hypoplasia 1 1 Matthew Bower
00315097 - PubMed: Weber 2006 Patient PRA1 in original published report. - - - - - - - - kidney disease Hearing impairment; Renal hypoplasia-bilateral, Vesico Ureteral reflux 1 1 Matthew Bower
00315098 - PubMed: Salomon 2001 - - - - - - - - - kidney disease Optic nerve coloboma-bilateral; Renal hypoplasias-bilateral; 20y-end stage renal disease 1 1 Matthew Bower
00315099 - PubMed: Schimmenti 1997 Patient 579 in original published report. M - - - - - - - kidney disease 46,XY karyotype. Apparently de novo.; Optic nerve coloboma-bilateral; retinal coloboma-bilateral; bilateral renal hypoplasia; 9y-abnormal EEG with clonic seizures; 2y-end stage renal disease 1 1 Matthew Bower
00315100 - PubMed: Fletcher 2005 Patient II-3 in original published report. Apparently de novo origin. Mother of Family 38; patients 2&3. F - - - 51y - - - kidney disease Hearing loss-bilateral sensorineural and conductive; Optic nerve coloboma-bilateral; renal hypoplasia-bilateral, medullary sponge kidney, pyelonephritis; kidney medullary sponge kidney; 29y-end stage renal disease 1 1 Matthew Bower
00315101 - PubMed: Fletcher 2005 Patient III-3 in original publication. Son of Family 38; patient 1. M - - - 16y - - - kidney disease Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral grade II-III, UPJ obstruction-unilateral; 14y-end stage renal disease 1 1 Matthew Bower
00315102 - PubMed: Fletcher 2005 Patient III-4 in original publicaction. Daughter of family 38; patient 1. Mother of family 38; patients 4,5,&6. F - - - - - - - kidney disease Optic nerve coloboma-bilateral; Stable chronic renal impairment, proteinuria 1 1 Matthew Bower
00315103 - PubMed: Fletcher 2005 Patient IV-1 in original published report. Son of Family 38; patient 3. Sibling to Family 38; patients 5 and 6. M - (Afghanistan) - - - - - kidney disease Optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal bilateral renal hypoplasia 1 1 Matthew Bower
00315104 - - Patient IV-2 in original publication. Twin sister to Family 38; patient 6. Daughter of family 38; patient 3. F - - - - - - - kidney disease Optic nerve coloboma-unilateral ; Renal hypoplasia-bilateral, renal dysplasia-bilateral; prenatal bilateral renal hypoplasia 1 1 Matthew Bower
00315105 - PubMed: Fletcher 2005 Patient IV-3 in original report. Monozygotic twin to family 38; patient 5. Daughter of family 38; patient 3. F - - - - - - - kidney disease Optic nerve coloboma-unilateral; Renal hypoplasia-unilateral, Multicystic dysplastic kidney-unilateral; prenatal renal hypoplasia-unilateral, multicystic dysplastic kidney-unilateral 1 1 Matthew Bower
00315106 - PubMed: Naito 1989, PubMed: Higashide 2005 Daughter of Family 42; patient 2. Detailed clinical description in Naito 1989. F - - - - - - - kidney disease polydactyly; VSD; Optic nerve coloboma-bilateral; foveal hypoplasia; horizontal nystagmus; Renal malrotation, Anomalous renal pelves 1 1 Matthew Bower
00315107 - PubMed: Higashide 2005 Mother of family 42; patient 1. Original clinical description in Naito 1989. F - - - - - - - kidney disease Optic disc dysplasia-bilateral; macular atrophy-unilateral; renal failure; 36y-end stage renal disease; 36y-renal transplant 1 1 Matthew Bower
00315108 - PubMed: DeVriendt 1998 - M - - - - - - - kidney disease Optic disc dysplasia-bilateral; papillomacular serous detachment; cystic degeneration of macular; vesicoureteral reflux 1 1 Matthew Bower
00315109 - PubMed: Devriendt 1998 Patient III-8 in original publication. Mutation incorrectly noted as G75S in abstract. F - - - - - - - kidney disease excavation of optic disc-bilateral; Cilioretinal vessels-bilateral; abnormal patterning of retinal vessels.; Decreased renal function, proteinuria 1 1 Matthew Bower
00315110 - PubMed: Devriendt 1998 Individual IV-2 in original published report. Mutation incorrectly called G75S in abstract. M - - - - - - - kidney disease Optic disc dysplasia; Peripapillary atrophy; abnormal retinal vessels; bilateral renal hypoplasia; kidney thin cortex, hypoplastic papillae, cortical cysts, medullary cysts; 32y-end stage renal disease 1 1 Matthew Bower
00315111 - PubMed: Devriendt 1998 Patient IV-3 in original published report. Mutation incorrectly called G75S in abstract. F - - - - - - - kidney disease Cilioretinal vessels-bilateral; abnormal retinal vessels; Renal hypoplasia-bilateral, proteinuria; kidney hypertrophic glomeruli, atrophic tubules, hypertrophic tubules 1 1 Matthew Bower
00315112 - PubMed: Devriendt 1998 Patient IV-6 in original published report. Mutation incorrectly called G75 in abstract M - - - - - - - kidney disease Optic disc excavation-unilateral; Optic pit; Cilioretinal vessels-bilateral; abnormal retinal vessels; maculopathy; bilateral renal hypoplasia; 33y-end stage renal disease 1 1 Matthew Bower
00315113 - PubMed: Devriendt 1998 Individual IV-7 in original published report. Mutation incorrectly called G75S in abstract. M - - - - - - - kidney disease Abnormal retinal vessels;Maculopathy; amblyopia; optic pit; renal failure; kidney hypoplastic cortex, hypoplastic medulla, 2-5 layers of obsolete glomeruli, cortical cysts, atrophic tubules, hypertrophic tubules; 22y-end stage renal disease 1 1 Matthew Bower
00315114 - PubMed: Devriendt 1998 Individual V:2 in original published report. Mutation incorrectly called G75S in abstract. F - - - - - - - kidney disease Optic disc dysplasia-bilateral; Decreased renal function, proteinuria 1 1 Matthew Bower
00315115 - PubMed: Amiel 2000 Family MA patient 1 in original published report. Child of Family 49; patient 2. - - - - - - - - kidney disease Optic nerve coloboma-bilateral; myopia; Renal agenesis-unilateral 1 1 Matthew Bower
00315116 - PubMed: Amiel 2000 Family MA patient 2 in original publication. Father of Family 49; patient 1. M - - - - - - - kidney disease Optic nerve coloboma-bilateral; chorioretinal coloboma; Renal insufficiency, renal hypoplasia 1 1 Matthew Bower
00315117 - PubMed: Cheong 2007 De novo with normal parental sequencing. Patient 6 in original published report. M - Korea - - - - - kidney disease Optic nerve coloboma-bilateral; nystagmus; renal hypoplasia-bilateral, increased parenchymal echogenicity by ultrasound, cystic lesion in one kidney, normal VCUG; 10y-end stage renal disease; 10y-renal transplant 1 1 Matthew Bower
00315118 - PubMed: Samimi 2008 Age at renal failure not specified. M - - - - - - - kidney disease Excavation of optic disc-unilateral; Morning glory anomaly-unilateral; Macular detachment-bilateral; Renal hypoplasia-bilateral, vesicoureteral reflux-bilateral 1 1 Matthew Bower
00315119 - PubMed: Schimmenti 2003 Individual 1583 in original published report. Two siblings died of renal failure but not evaluated. F - - - - - - - kidney disease Hearing loss; Optic nerve atrophy; Retinal pigment epithelium thinning; abnormal retinal vessels; Nephritis; 60y-renal transplant 1 1 Matthew Bower
00315120 - PubMed: Schimmenti 2003 Individual 1584 in original published report. Daughter of family 53; patient 1. Mother of family 53; patient 3. F - - - - - - - kidney disease high frequency hearing loss; Optic disc dysgenesis; enlarged optic disc; excavated optic disc; abnormal retinal vessels; Nephritis; kidney chronic tubular interstitial disease.; 25y-renal transplant 1 1 Matthew Bower
00315121 - PubMed: Schimmenti 2003 Patient 1585 in original published report. Son of family 53; patient 2. M - - - - - - - kidney disease Optic nerve dysplasia-bilateral; nystagmus; enlarged optic disc; gliotic material in optic disc; nystagmus; Normal renal function at age 3; Tourette syndrome 1 1 Matthew Bower
00315122 - PubMed: Miyazawa 2009 - M - - - - - - - kidney disease Optic nerve coloboma-bilateral; Proteinuria, renal failure; developmental delay; prenatal glomerular enlargement; collapse of glomerular capillaries; mesangial matrix expansion, tubulointerstitial change; 12y-end stage renal disease 1 1 Matthew Bower
00315123 - PubMed: Martinovic-Bouriel 2010 Patient 1 in original published report. Fetal autopsy case. De novo with normal parental sequencing. F - - - - - - - ? brachymesophalangia of 5th fingers.; Optic nerve coloboma-bilateral; Hypoplastic right kidney, hypoplastic cystic left kidney.; kidney oligomeganephronia, absent corticomedullary differentiation, parenchymal cysts, ; prenatal suspected bilateral renal agenesis by 2nd trimester ultrasound, anhydramnios 1 1 Matthew Bower
00315124 - PubMed: Weber 2006 Patient VIL8 in original published report. Father has end stage renal disease and optic nerve coloboma. F - - - - - - - kidney disease Optic disc hypoplasia-bilateral; multicystic dysplastic kidneys 1 1 Matthew Bower
00315125 - PubMed: Sellick 2004 Individual III-2 in original report. Methods paper with limited clinical data. M - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315126 - PubMed: Sellick 2004 Individual III-5 in original report. Methods paper with limited clinical data. M - - - - - - - kidney disease - 1 1 Matthew Bower
00315127 - PubMed: Sellick 2004 Individual III-6 in original report. Methods paper with limited clinical data. M - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315128 - PubMed: Selick 2004 Individual III-8 in original report. Methods paper with limited clinical data. M - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315129 - PubMed: Sellick 2004 Individual IV-1 in original report. Methods paper with limited clinical data. F - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315130 - PubMed: Sellick 2004 Individual IV-2 in original report. Methods paper with limited clinical data. M - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315131 - PubMed: Selick 2004 Individual IV-6 in original publication. Methods paper with limited clinical data M - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315132 - PubMed: Sellick 2004 - F - - - - - - - kidney disease renal dysplasia 1 1 Matthew Bower
00315133 - PubMed: Thomas 2010 Parents unavailable for analysis, but reported to be asymptomatic. - - - - - - - - kidney disease Bilateral optic disc excavation; renal hypoplasia, renal failure; kidney renal hypoplastic oligomeganephronia 1 1 Matthew Bower
00315134 - PubMed: Thomas 2011 - - - - - - - - - kidney disease renal hypodysplasia 1 1 Matthew Bower
00315135 - PubMed: Sanyanusin 1995 patient 1 in original published report. Son of family 65; patient 4. M - - - - - - - kidney disease Short stature. 46,XY karyotype.; Optic nerve coloboma-bilateral; myopia; strabismus; nystagmus; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral; 15y-end stage renal disease 1 1 Matthew Bower
00315136 - PubMed: Sanyanusin 1995 Patient 2 in original published report. M - - - - - - - kidney disease Optic nerve coloboma-bilateral; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral, poor corticomedullary differentiation 1 1 Matthew Bower
00315137 - PubMed: Sanyanusin 1995 patient 3 in original published report M - - - - - - - kidney disease short stature; optic nerve coloboma-bilateral; enlarged optic disc-bilateral; renal hypoplasia-bilateral, echogenic kidneys, Poor corticomedullary differentiation, vesicoureteral reflux; 32w-pre-term delivery; 1y-renal transplant 1 1 Matthew Bower
00315138 - PubMed: Sanyanusin 1995 Patient 4 in original published report. Father of family 65; patients 1,2,3 M - - - - - - - kidney disease Optic nerve coloboma-bilateral; Normal renal ultrasound, mild renal insufficiency 1 1 Matthew Bower
00315139 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual I-1 in both original published reports. M - Brazil - - - - - kidney disease Hearing loss-unilateral; Excavation of optic disc-unilateral; optic nerve coloboma-unilateral; Elevated serum creatinine, normal renal ultrasound 1 1 Matthew Bower
00315140 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-5 in 2000 publication; individual II-4 in 2001 publication. M - Brazil - - - - - kidney disease Optic nerve coloboma-bilateral; peripalliary choroiditis; Renal hypoplasia-bilateral, Echogenic cortices 1 1 Matthew Bower
00315141 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-6 in 2001 publication; individual II-7 in 2000 publication. F - - - - - - - kidney disease Optic nerve coloboma-bilateral; Normal renal ultrasound, normal renal function 1 1 Matthew Bower
00315142 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-8 in 2001 publication; individual II-9 in 2000 publication. M - Brazil - - - - - kidney disease Optic nerve coloboma-bilateral; Nephrolithiasis-bilateral, single functioning kidney 1 1 Matthew Bower
00315143 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-9 in both original published reports. M - - - - - - - kidney disease Optic disc dysplasia-bilateral; altered origin of papillary vessels.; Normal renal ultrasound, normal renal function 1 1 Matthew Bower
00315144 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-11 in both published reports. M - Brazil - - - - - kidney disease Profound bilateral excavation of the optic nerve; Normal renal ultrasound, normal renal function 1 1 Matthew Bower
00315145 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-13 in both published reports. F - Brazil - - - - - kidney disease Horizontal nystagmus; hypoplastic colobomatous optic papillae; hyperpigmented macula; rarefied RPE; Bilateral renal atrophy, cystic kidneys, cortical hyperechogenicity, no medullary differentiation. 1 1 Matthew Bower
00315146 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-16 in both published reports. M - Brazil - - - - - kidney disease Bilateral optic nerve pits; abundant fibroglial tissue.; vesicoureteral reflux 1 1 Matthew Bower
00315147 - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-17 in both published reports. M - Brazil - - - - - kidney disease Optic nerve coloboma-bilateral; retinal detachment; rarefied RPE; Renal hypoplasia-bilateral, echogenic cortices, ; 7y-end stage renal disease; 7y-renal transplant 1 1 Matthew Bower
00315148 - PubMed: Nishimoto 2001 Patient 2 in original published report. F - Japan - - - - - kidney disease Optic disc hypoplasia-unilateral; bilateral renal hypoplasia 1 1 Matthew Bower
00315149 - PubMed: Nishimoto 2001 Patient 1 in original published report M - Japan - - - - - kidney disease no eye anomalies; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral; 7y-end stage renal disease 1 1 Matthew Bower
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.