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No clinical trials have been registered for lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation.
2 publications have been identified in PubMed for lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Messina M (2025). [PMID: 38872485](https://pubmed.ncbi.nlm.nih.gov/38872485/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Alayoubi AM (2024). [PMID: 39455833](https://pubmed.ncbi.nlm.nih.gov/39455833/). *Sci Rep*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:52 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center