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Disease name
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Senior-Loken 증후군
Senior-Loken syndrome
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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CEP290
|
12q21.32 |
Centrosomal protein of 290 kDa |
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IQCB1
|
3q13.33 |
IQ calmodulin-binding motif-containing protein 1 |
|
NPHP1
|
2q13 |
Nephrocystin-1 |
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NPHP4
|
1p36.31 |
Nephrocystin-4 |
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|
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Prevalence
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1-9 / 1 000 000 |
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Inheritance
|
|
상염색체 열성 |
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Age of onset
|
|
소아기 |
|
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ICD 10 code
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|
Q74.8 |
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MIM number
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|
266900
|
|
606995
|
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606996
|
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609254
|
|
610189
|
|
613615
|
|
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Synonym
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|
Renal dysplasia - retinal aplasia |
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Summary
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Under development. |
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