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Ataxia with Identified Genetic and Biochemical Defects
... renal involvement) and COACH syndrome (ie, cerebellar hypoplasia,
, ataxia, coloboma, hepatic fibrosis) feature malformations in multiple ...
... higher than 1200 µmol/L are associated with facial dysmorphism, fetal
, learning difficulties, congenital heart defects, and intrauterine ...
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