Genomics England
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Panels
Genes and Entities
VAC14
Vac14, PIKFYVE complex component
OMIM:
604632
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Panel
Mode of inheritance
Details
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Childhood onset dystonia, chorea or related movement disorder
R-numbers:
R57
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Striatonigral degeneration, childhood-onset 617054