" /> Pontocerebellar hypoplasia type 1 - CISMeF





Preferred Label : Pontocerebellar hypoplasia type 1;

ICD-11 definition : Pontocerebellar hypoplasia type I is a lethal congenital disorder of brain morphogenesis; clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration.;

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Pontocerebellar hypoplasia type I is a lethal congenital disorder of brain morphogenesis; clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration.

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29/07/2025


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