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Start free with EleplanPontocerebellar hypoplasia type 17
ORPHA:728521Clinical subtype
Also called PCH17 · PRDM13-related pontocerebellar hypoplasia
What it is
A rare subtype of pontocerebellar hypoplasia characterized by global developmental delay, motor impairment, axial hypotonia and distal hypotonia as well as severe brainstem dysfunctions (feeding and respiratory difficulties, central apnea, bradycardia). Other variable clinical features can include ophtalmological, cardiac and gastrointestinal anomalies, facial dysmorphism and epilepsy. This subtype is associated with perinatal lethality. Brain imaging usually shows cerebellar hypoplasia together with brainstem hypoplasia.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Age of onset
- Antenatal, Infancy, NeonatalPontocerebellar hypoplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
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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