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Lowe-Syndrom
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Synonym |
Okulozerebrorenales Syndrom |
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Englisch |
oculocerebrorenal syndrome |
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Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency |
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ICD10 |
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Definition |
Trias: Katarakt, mentale Retardierung, renale tubuläre Dysfunktion (Fanconi-Syndrom) |
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Klassifikationen |
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