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Start free with EleplanIsolated global cerebellar hypoplasia
ORPHA:727803Morphological anomaly
Also called Isolated generalized cerebellar hypoplasia
What it is
A rare isolated cerebellar malformation characterized by a normal shape but reduced volume of the cerebellar vermis and hemispheres with no other neurological anomalies or extracerebral congenital malformations. The majority of patients present with impaired ambulation, global developmental delay, with or without intellectual disability. Other signs might include hypotonia, truncal, appendicular and gait ataxia, as well as oculomotor abnormalities.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- Classified as
- Morphological anomaly
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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