Phenotypes for disease #05862 (kidney disease (kidney disease))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

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217 entries on 3 pages. Showing entries 1 - 100.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000238806	renal coloboma syndrome	-	Bilateral optic nerve colobomas; Unilateral renal agenesis, renal failure; 7y-end stage renal disease; 7y-renal transplant	Familial	-	-	-	-	Matthew Bower	00315054
0000238807	renal coloboma syndrome	-	bilateral optic nerve coloboma; Mild chronic renal failure	Familial	-	-	-	-	Matthew Bower	00315055
0000238808	renal coloboma syndrome	-	Morning glory anomaly-bilateral; bilateral renal hypoplasia; 10y-end stage renal disease	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315056
0000238809	renal coloboma syndrome	-	Morning glory anomaly-bilateral; renal failure	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315057
0000238810	renal coloboma syndrome	-	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.	Isolated (sporadic)	-	2m	-	-	Matthew Bower	00315058
0000238811	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; emmetropia; Renal hypoplasia-bilateral, normal VCUG; 9y-renal transplant	Isolated (sporadic)	-	7y	-	-	Matthew Bower	00315059
0000238812	renal coloboma syndrome	-	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	Isolated (sporadic)	-	6m	-	-	Matthew Bower	00315060
0000238813	renal coloboma syndrome	-	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	Isolated (sporadic)	-	7y	-	-	Matthew Bower	00315061
0000238814	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; nystagmus; bilateral renal hypoplasia	Isolated (sporadic)	-	3y	-	-	Matthew Bower	00315062
0000238815	renal coloboma syndrome	-	microphthalmia-bilateral; dysplastic optic nerve-unilateral; retinal degeneration; bilateral renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315063
0000238816	renal coloboma syndrome	-	retinal coloboma-bilateral; bilateral renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315064
0000238817	renal coloboma syndrome	-	Morning glory syndrome; bilateral renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315065
0000238818	renal coloboma syndrome	-	Papillary dysplasia-bilateral; Cystic renal hypoplasia-unilateral	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315066
0000238819	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Cystic renal hypoplasia-unilateral	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315067
0000238820	renal coloboma syndrome	-	Optic nerve coloboma-unilateral; hypoplastic optic disc-unilateral; Renal dysplasia-bilateral, renal cyst	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315068
0000238821	renal coloboma syndrome	-	Hearing impairment; Optic disc dysplasia; Renal dysplasia-bilateral	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315069
0000238822	renal coloboma syndrome	-	Optic nerve coloboma; optic disc dysplasia; bilateral renal hypoplasia	Familial	-	14y	-	-	Matthew Bower	00315070
0000238823	renal coloboma syndrome	-	Hearing impairment; Optic nerve coloboma; Multicystic dysplastic kidneys, PUJ obstruction	Isolated (sporadic)	-	10y	-	-	Matthew Bower	00315071
0000238824	renal coloboma syndrome	-	Papillary dysplasia; thickening of papilla ; bilateral renal hypoplasia; kidney oligomeganephronia; 5.5y-end stage renal disease	Isolated (sporadic)	-	4y	4y	-	Matthew Bower	00315072
0000238825	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; bilateral renal hypoplasia; kidney oligomeganephronia; 7y-end stage renal disease	Isolated (sporadic)	-	0y	0y	-	Matthew Bower	00315073
0000238826	renal coloboma syndrome	-	soft skin; Optic disc hyopoplasia-bilateral; bilateral opacities of anterior and posterior lens capsule.; bilateral renal hypoplasia; 24y-end stage renal disease	Familial	-	-	19y	-	Matthew Bower	00315074
0000238827	renal coloboma syndrome	-	Soft skin; 46,XY karyotype; Esotropia; exophthalmos; Absent optic nerve head-unilateral; bilateral renal hypoplasia; developmental delay; microcephaly; 14y-renal transplant	Familial, autosomal dominant	-	-	4m	-	Matthew Bower	00315075
0000238828	renal hypolasia	-	no eye anomalies; Renal hypodysplasia-bilateral	Familial	-	-	-	-	Matthew Bower	00315076
0000238829	renal coloboma syndrome	-	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	Isolated (sporadic)	-	-	3y	-	Matthew Bower	00315077
0000238830	renal coloboma syndrome	-	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	Familial	-	1m	1m	-	Matthew Bower	00315078
0000238831	renal coloboma syndrome	-	Morning glory anomaly-bilateral; Renal insufficiency, renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315079
0000238832	renal coloboma syndrome	-	Bilateral morning glory anomaly; no kidney problems	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315080
0000238833	renal coloboma syndrome	-	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	Isolated (sporadic)	-	-	0m	-	Matthew Bower	00315081
0000238834	renal coloboma syndrome	-	Enlarged optic disc-bilateral; Abnormal retinal pigmentation; Multicystic dysplastic kidneys-unilateral, UPJ obstruction-unilateral; prenatal 18w ultrasound right multicystic dysplastic kidney, left hydronephrosis	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315082
0000238835	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; bilateral renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315083
0000238836	renal coloboma syndrome	-	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	Familial	-	-	-	-	Matthew Bower	00315084
0000238838	renal coloboma syndrome	-	bilateral renal hypoplasia; 19y-end stage renal disease	Familial, autosomal dominant	-	-	6y	-	Matthew Bower	00315086
0000238839	renal coloboma syndrome	-	cryptorchidism; Optic nerve coloboma-bilateral; retinal detachment; Renal hypoplasia-bilateral, multicystic kidneys, ; 13y-end stage renal disease	Familial	-	-	-	-	Matthew Bower	00315087
0000238840	renal coloboma syndrome	-	joint laxity; mental retardation; seizures; Optic nerve coloboma-bilateral; Posterior lens luxation; calcified keratopathy; Renal hypoplasia-bilateral, Vesicoureteral reflux	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315088
0000238841	renal coloboma syndrome	-	Umbilical hernia; inguinal hernia; Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal tubular acidosis; 5y-end stage renal disease; 7y-renal transplant	Isolated (sporadic)	-	4m	4m	-	Matthew Bower	00315089
0000238842	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Cystic dysplastic kidney-unilateral, VUR grade II-III-unilateral	Familial	-	2m	2m	-	Matthew Bower	00315090
0000238843	renal coloboma syndrome	-	Sensorineural hearing loss-bilateral; Myopia; isotropy; Renal hypodysplasia-bilateral, reflux nepropathy	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315091
0000238844	renal coloboma syndrome	-	renal hypodysplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315092
0000238845	renal hypolasia	-	renal hypodysplasia	Familial	-	-	-	-	Matthew Bower	00315093
0000238846	renal coloboma syndrome	-	4th and 5th digit clinodactyly; Optic nerve coloboma-bilateral; nystagmus; esotropia; vesicoureteral reflux	Familial, autosomal dominant	-	5y	-	-	Matthew Bower	00315094
0000238847	renal coloboma syndrome	-	bilateral optic nerve coloboma; Renal cysts	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315095
0000238848	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; bilateral renal hypoplasia	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315096
0000238849	renal hypolasia	-	Hearing impairment; Renal hypoplasia-bilateral, Vesico Ureteral reflux	Familial	-	-	-	-	Matthew Bower	00315097
0000238850	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Renal hypoplasias-bilateral; 20y-end stage renal disease	Familial	-	0m	0m	-	Matthew Bower	00315098
0000238851	renal coloboma syndrome	-	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	Isolated (sporadic)	-	3m	3m	-	Matthew Bower	00315099
0000238852	renal coloboma syndrome	-	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	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315100
0000238853	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral grade II-III, UPJ obstruction-unilateral; 14y-end stage renal disease	Familial, autosomal dominant	-	3y	3y	-	Matthew Bower	00315101
0000238854	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Stable chronic renal impairment, proteinuria	Familial, autosomal dominant	-	18y	18y	-	Matthew Bower	00315102
0000238855	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal bilateral renal hypoplasia	Familial, autosomal dominant	-	0m	0m	-	Matthew Bower	00315103
0000238856	renal coloboma syndrome	-	Optic nerve coloboma-unilateral ; Renal hypoplasia-bilateral, renal dysplasia-bilateral; prenatal bilateral renal hypoplasia	Familial, autosomal dominant	-	0m	0m	-	Matthew Bower	00315104
0000238857	renal coloboma syndrome	-	Optic nerve coloboma-unilateral; Renal hypoplasia-unilateral, Multicystic dysplastic kidney-unilateral; prenatal renal hypoplasia-unilateral, multicystic dysplastic kidney-unilateral	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315105
0000238858	renal coloboma syndrome	-	polydactyly; VSD; Optic nerve coloboma-bilateral; foveal hypoplasia; horizontal nystagmus; Renal malrotation, Anomalous renal pelves	Familial, autosomal dominant	-	34y	34y	-	Matthew Bower	00315106
0000238859	renal coloboma syndrome	-	Optic disc dysplasia-bilateral; macular atrophy-unilateral; renal failure; 36y-end stage renal disease; 36y-renal transplant	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315107
0000238860	renal coloboma syndrome	-	Optic disc dysplasia-bilateral; papillomacular serous detachment; cystic degeneration of macular; vesicoureteral reflux	Isolated (sporadic)	-	9y	9y	-	Matthew Bower	00315108
0000238861	renal coloboma syndrome	-	excavation of optic disc-bilateral; Cilioretinal vessels-bilateral; abnormal patterning of retinal vessels.; Decreased renal function, proteinuria	Familial, autosomal dominant	-	70y	-	-	Matthew Bower	00315109
0000238862	renal coloboma syndrome	-	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	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315110
0000238863	renal coloboma syndrome	-	Cilioretinal vessels-bilateral; abnormal retinal vessels; Renal hypoplasia-bilateral, proteinuria; kidney hypertrophic glomeruli, atrophic tubules, hypertrophic tubules	Familial, autosomal dominant	-	16y	-	-	Matthew Bower	00315111
0000238864	renal coloboma syndrome	-	Optic disc excavation-unilateral; Optic pit; Cilioretinal vessels-bilateral; abnormal retinal vessels; maculopathy; bilateral renal hypoplasia; 33y-end stage renal disease	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315112
0000238865	renal coloboma syndrome	-	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	Familial, autosomal dominant	-	4y	4y	-	Matthew Bower	00315113
0000238866	renal coloboma syndrome	-	Optic disc dysplasia-bilateral; Decreased renal function, proteinuria	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315114
0000238867	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; myopia; Renal agenesis-unilateral	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315115
0000238868	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; chorioretinal coloboma; Renal insufficiency, renal hypoplasia	Familial	-	-	-	-	Matthew Bower	00315116
0000238869	renal coloboma syndrome	-	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	Isolated (sporadic)	-	1y	1y	-	Matthew Bower	00315117
0000238870	renal coloboma syndrome	-	Excavation of optic disc-unilateral; Morning glory anomaly-unilateral; Macular detachment-bilateral; Renal hypoplasia-bilateral, vesicoureteral reflux-bilateral	Isolated (sporadic)	-	19y	2m	-	Matthew Bower	00315118
0000238871	renal coloboma syndrome	-	Hearing loss; Optic nerve atrophy; Retinal pigment epithelium thinning; abnormal retinal vessels; Nephritis; 60y-renal transplant	Familial	-	60y	19y	-	Matthew Bower	00315119
0000238872	renal coloboma syndrome	-	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	Familial, autosomal dominant	-	20y	-	-	Matthew Bower	00315120
0000238873	renal coloboma syndrome	-	Optic nerve dysplasia-bilateral; nystagmus; enlarged optic disc; gliotic material in optic disc; nystagmus; Normal renal function at age 3; Tourette syndrome	Familial, autosomal dominant	-	-	8m	-	Matthew Bower	00315121
0000238874	renal coloboma syndrome	-	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	Familial	-	-	7y	-	Matthew Bower	00315122
0000238876	renal coloboma syndrome	-	Optic disc hypoplasia-bilateral; multicystic dysplastic kidneys	Familial, autosomal dominant	-	11y	-	-	Matthew Bower	00315124
0000238877	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315125
0000238878	renal dysplasia	-	-	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315126
0000238879	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315127
0000238880	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315128
0000238881	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315129
0000238882	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315130
0000238883	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315131
0000238884	renal dysplasia	-	renal dysplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315132
0000238885	renal coloboma syndrome	-	Bilateral optic disc excavation; renal hypoplasia, renal failure; kidney renal hypoplastic oligomeganephronia	Familial	-	-	-	-	Matthew Bower	00315133
0000238886	renal hypodysplasia	-	renal hypodysplasia	Familial	-	-	-	-	Matthew Bower	00315134
0000238887	renal coloboma syndrome	-	Short stature. 46,XY karyotype.; Optic nerve coloboma-bilateral; myopia; strabismus; nystagmus; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral; 15y-end stage renal disease	Familial, autosomal dominant	-	-	18m	-	Matthew Bower	00315135
0000238888	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral, poor corticomedullary differentiation	Familial, autosomal dominant	-	10y	-	-	Matthew Bower	00315136
0000238889	renal coloboma syndrome	-	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	Familial, autosomal dominant	-	0m	0m	-	Matthew Bower	00315137
0000238890	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Normal renal ultrasound, mild renal insufficiency	Isolated (sporadic)	-	35y	-	-	Matthew Bower	00315138
0000238891	renal coloboma syndrome	-	Hearing loss-unilateral; Excavation of optic disc-unilateral; optic nerve coloboma-unilateral; Elevated serum creatinine, normal renal ultrasound	Familial	-	-	-	-	Matthew Bower	00315139
0000238892	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; peripalliary choroiditis; Renal hypoplasia-bilateral, Echogenic cortices	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315140
0000238893	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Normal renal ultrasound, normal renal function	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315141
0000238894	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; Nephrolithiasis-bilateral, single functioning kidney	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315142
0000238895	renal coloboma syndrome	-	Optic disc dysplasia-bilateral; altered origin of papillary vessels.; Normal renal ultrasound, normal renal function	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315143
0000238896	renal coloboma syndrome	-	Profound bilateral excavation of the optic nerve; Normal renal ultrasound, normal renal function	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315144
0000238897	renal coloboma syndrome	-	Horizontal nystagmus; hypoplastic colobomatous optic papillae; hyperpigmented macula; rarefied RPE; Bilateral renal atrophy, cystic kidneys, cortical hyperechogenicity, no medullary differentiation.	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315145
0000238898	renal coloboma syndrome	-	Bilateral optic nerve pits; abundant fibroglial tissue.; vesicoureteral reflux	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315146
0000238899	renal coloboma syndrome	-	Optic nerve coloboma-bilateral; retinal detachment; rarefied RPE; Renal hypoplasia-bilateral, echogenic cortices, ; 7y-end stage renal disease; 7y-renal transplant	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315147
0000238900	renal coloboma syndrome	-	Optic disc hypoplasia-unilateral; bilateral renal hypoplasia	Isolated (sporadic)	-	4y	1m	-	Matthew Bower	00315148
0000238901	renal hypolasia	-	no eye anomalies; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral; 7y-end stage renal disease	Familial, autosomal dominant	-	8y	3m	-	Matthew Bower	00315149
0000238902	renal hypolasia	-	no eye anomalies; bilateral renal hypoplasia; 8y-end stage renal disease	Isolated (sporadic)	-	-	3y	-	Matthew Bower	00315150
0000238903	renal coloboma syndrome	-	optic nerve coloboma-bilateral; Horseshoe kidney	Isolated (sporadic)	-	-	-	-	Matthew Bower	00315151
0000238904	renal hypolasia	-	no eye anomalies; bilateral renal hypoplasia; 10y-end stage renal disease	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315152
0000238905	renal coloboma syndrome	-	bilateral optic nerve coloboma; bilateral renal hypoplasia	Familial, autosomal dominant	-	-	-	-	Matthew Bower	00315153
0000238906	renal coloboma syndrome	-	bilateral optic nerve coloboma; bilateral renal hypoplasia	Familial, autosomal dominant	-	7y	-	-	Matthew Bower	00315154
0000238907	renal coloboma syndrome	-	bilateral optic nerve coloboma; bilateral renal hypoplasia	Familial, autosomal dominant	-	5y	-	-	Matthew Bower	00315155

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Global Variome shared LOVD