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pontocerebellar hypoplasia type 6
?
TBD
human disease
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Subject of
1
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
scientific article published on July 2015
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Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
nervous system heredodegenerative disease
combined oxidative phosphorylation deficiency
Wikidata
