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Infantile sialic acid storage sisease (ISSD)
Relevant markers:
HydropsEpiphyseal calcificationsHepatomegalySplenomegaly
Involved genes:
(gene — definition — chromosome)SLC17A5 — SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5 SIALIN — 6q13 Inheritance mode: AR Other online databases: OMIM References: 2017 J Inherit Metab Dis Review Read on PubMed Login for more details.