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pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease
Pathology:
- abnormally small cerebellum & brainstem (hypoplasia of cerebellum & pons)
- central & peripheral motor dysfunction from birth
- gliosis
- anterior horn cell degeneration
Genetics:
- associated with defects in VRK1
Differential diagnosis:
- resembles infantile spinal muscular atrophy
General
pontocerebellar hypoplasia
genetic disease of the central nervous system
Database Correlations
OMIM 607596
References
OMIM :accession 607596