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pontocerebellar hypoplasia
Pathology:
- hypoplasia of cerebellum & pons
Specific
pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia type 2
pontocerebellar hypoplasia type 6; fatal infantile encephalopathy with mitochondrial respiratory chain defects
General
disease/disorder primarily affecting brain
developmental disorder