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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
General
pontocerebellar hypoplasia
genetic disease of the central nervous system
Database Correlations
OMIM correlations
References
OMIM :accession 612389