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Up to: Hereditary disease

Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

0 trials tagged with this condition →

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation 0 trials
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster 0 trials