Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanPontocerebellar hypoplasia type 16
ORPHA:728514Clinical subtype
Also called MINPP1-related pontocerebellar hypoplasia · PCH16
What it is
A rare subtype of pontocerebellar hypoplasia (PCH) characterized by an almost complete absence of motor and cognitive development, microcephaly, epilepsy, spastic tetraplegia, vision impairment, extrapyramidal movements, and stereotypies. Brain imaging is distinct from other PCH subtypes and consists of mild-to-severe PCH, ventriculomegaly, thin corpus callosum and hypoplasia and T2-weighted hyperintensity of the basal ganglia and thalamus.
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.