pontocerebellar hypoplasia type 1A

(redirected from pontocerebellar hypoplasia with infantile spinal muscular atrophy)

pontocerebellar hypoplasia type 1A

A condition (OMIM:607596) characterised by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction of neonatal onset, gliosis, and anterior horn cell degeneration that resembles infantile spinal muscular atrophy.
 
Molecular pathology
Defects of VRK, which encodes a serine/threonine protein kinase, cause pontocerebellar hypoplasia type 1A.