Disease #00098 (SLSN7 (Senior-Loken syndrome, type 7 (SLSN-7)), OMIM:613615)

Official abbreviation SLSN7
Name Senior-Loken syndrome, type 7 (SLSN-7)
OMIM ID 613615
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 285
Associated with 1 gene SDCCAG8
Associated tissues -
Disease features -
Remarks -
Date created 2012-12-14 10:02:44 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00418315 F159-21 PubMed: Otto 2010 family F159, individual 21 - yes - Europe - - - - SLSN7 age at end-stage kidney failure: 11y; retinal degeneration at age: 7y SDCCAG8 SDCCAG8 1 1 LOVD
00418316 F159-22 PubMed: Otto 2010 family F159, individual 22 - yes - Europe - - - - SLSN7 age at end-stage kidney failure: 7y; at 6y no retinal degeneration; other: generalized seizures SDCCAG8 SDCCAG8 1 1 LOVD
00418317 FII.22-21 PubMed: Otto 2010 family FII.22, individual 21 - yes - - - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 14y; other: mild mental retardation, hypogenitalism, obesity SDCCAG8 SDCCAG8 1 1 LOVD
00418318 FII.22-22 PubMed: Otto 2010 family FII.22, individual 22 - yes - - - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 1y; other: mild mental retardation, hypogenitalism, obesity SDCCAG8 SDCCAG8 1 1 LOVD
00418319 AR37-05 PubMed: Otto 2010 family AR37, individual 05 - no - Northern European - - - - SLSN7 age at end-stage kidney failure: 22y; retinal degeneration at age: 13y; other: obesity, hypogenitalism, peripheral neuropathy SDCCAG8 SDCCAG8 2 1 LOVD
00418320 AR37-07 PubMed: Otto 2010 family AR37, individual 07 - no - Northern European - - - - SLSN7 no end-stage kidney failure; retinal degeneration at age: 11y; other: mental retardation SDCCAG8 SDCCAG8 2 1 LOVD
00418321 AR37-02 PubMed: Otto 2010 family AR37, individual 02 - no - Northern European - - - - SLSN7 age at end-stage kidney failure: 28y; retinal degeneration at age: 2y; other: obesity, clinodactyly of 5th finger bilaterally SDCCAG8 SDCCAG8 2 1 LOVD
00418322 FI.2-21 PubMed: Otto 2010 family FI.2, individual 21 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 23y; retinal degeneration at age: 29y; other: mild mental retardation, obesity. SDCCAG8 SDCCAG8 1 1 LOVD
00418323 FI.2-22 PubMed: Otto 2010 family FI.2, individual 22 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 13y; retinal degeneration at age: 13y; other: mild mental retardation, obesity. SDCCAG8 SDCCAG8 1 1 LOVD
00418324 FI.2-23 PubMed: Otto 2010 family FI.2, individual 23 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 10y; retinal degeneration at age: 10y; other: mild mental retardation SDCCAG8 SDCCAG8 1 1 LOVD
00418325 FI.2-24 PubMed: Otto 2010 family FI.2, individual 24 - yes - Gypsy - - - - SLSN7 age at end-stage kidney failure: 6y; retinal degeneration at age: 6y SDCCAG8 SDCCAG8 1 1 LOVD
00418326 A2290 PubMed: Otto 2010 family A2290 - yes - Turkey - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 14y; retinal degeneration at age: age unknown; other: brain: arachnoid cyst, mild mental retardation SDCCAG8 SDCCAG8 1 1 LOVD
00418327 SS-F336-21 PubMed: Otto 2010 family SS, individual F336, individual 21 - yes - Algeria - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 7y; retinal degeneration at age: 13y; flat electroretinogram; other: mild mental retardation, no liver or bone disease SDCCAG8 SDCCAG8 1 1 LOVD
00418328 SS-F336-22 PubMed: Otto 2010 family SS, individual F336, individual 22 - yes - Algeria - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 6y; flat electroretinogram SDCCAG8 SDCCAG8 1 1 LOVD
00418329 SS23/A1365-21 PubMed: Otto 2010 family SS23/A1365, individual 21 - yes - La Reunion - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 14y; 30% vision; other: brain scan normal SDCCAG8 SDCCAG8 1 1 LOVD
00418330 SS23/A1365-22 PubMed: Otto 2010 family SS23/A1365, individual 22 - yes - La Reunion - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 7y SDCCAG8 SDCCAG8 1 1 LOVD
00418331 NK-F1063 PubMed: Otto 2010 family NK, individual F1063 - no - India - - - - SLSN7 age at end-stage kidney failure: end-stage kidney failure, age unknown; retinal degeneration at age: age unknown; other: obesity, mild mental retardation SDCCAG8 SDCCAG8 2 1 LOVD
00418332 F1054-21 PubMed: Otto 2010 family F1054, individual 21 - yes - Pakistan - - - - SLSN7 age at end-stage kidney failure: <10y; retinal degeneration at age: no data; other: polycystic ovary syndrome SDCCAG8 SDCCAG8 1 1 LOVD
00418333 F1054-22 PubMed: Otto 2010 family F1054, individual 22 - yes - Pakistan - - - - SLSN7 age at end-stage kidney failure: <9y; retinal degeneration at age: no data SDCCAG8 SDCCAG8 1 1 LOVD
00418334 F195 PubMed: Otto 2010 family F195 - - - Germany - - - - SLSN7 age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 22y; retinal degeneration at age: age unknown; other: no data SDCCAG8 SDCCAG8 1 1 LOVD
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