Condition: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
rs200594402
in
VPS53
gene and
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
PMID 28567303
2016 Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
PMID 24577744
2014 VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).