pontocerebellar hypoplasia type 1B

pontocerebellar hypoplasia type 1B

An autosomal recessive neurologic disorder (OMIM:614678) characterised by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay and brainstem involvement.

Molecular pathology
Caused by defects in EXOSC3, which encodes a non-catalytic component of the RNA exosome complex that has 3' to 5' exoribonuclease activity and participates in various RNA processing and degradation events.