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Start free with EleplanPontocerebellar hypoplasia
ORPHA:98523Malformation syndrome
Also called PCH · Pontoneocerebellar atrophy · Pontoneocerebellar hypoplasia
What it is
A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Genes reported in subtypes
Orphanet records these genes on 12 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
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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