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Malattia rara
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Sindrome di Kelley-Seegmiller
Sindrome di Kelley-Seegmiller
ORPHA:
79233
· ICD-10
E79.8
· Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Prevalenza
Unknown
Trasmissione
X-linked recessive
Età di esordio
All ages
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