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Q44603125-65D2F68B-BA49-4845-8D78-A626BF6EBD0B
Q44603125-65D2F68B-BA49-4845-8D78-A626BF6EBD0B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44603125-65D2F68B-BA49-4845-8D78-A626BF6EBD0B
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
P2860
Q44603125-65D2F68B-BA49-4845-8D78-A626BF6EBD0B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44603125-65D2F68B-BA49-4845-8D78-A626BF6EBD0B
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5f33c136df9a9fe14db43b9b92e4750c230051a0
P2860
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior