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OMIM ID
607596
OMIM term:
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
Alternative terms:
PCH1
PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY
PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE
(∗) Location:
14q32.2
(†) Associated OMIM genes:
VRK1
(‡) Associated MGI genes:
Mouse
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