pontocerebellar hypoplasia type 2

Pathology

• abnormally small cerebellum & brainstem (hypoplasia of cerebellum & pons)
• normal spinal cord findings

Genetics

• type 2B associated with defects in TSEN2
• type 2C associated with defects in TSEN34

Clinical manifestations

• progressive microcephaly from birth
• extrapyramidal dyskinesia & chorea
• epilepsy

More general terms

• pontocerebellar hypoplasia
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/612389
• OMIM: https://mirror.omim.org/entry/612390