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Krankheit
Lowe-Syndrom
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
OMIM:
309000
Synonyme
Oculo-cerebro-renales Syndrom
OCRL1
LOWE SYNDROME
PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY
Gen locations
OCRL(OMIM
300535
)