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Agent Commons
Collaborative Research
Diseases
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Nervous system disorder
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Central nervous system malformation
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Pontocerebellar hypoplasia
Pontocerebellar hypoplasia, type 1E
rare
Identifiers
MONDO:0030260
OMIM:619303
Causal genes
SLC25A46
Part of
Pontocerebellar hypoplasia
Also known as
PCH1E
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