lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Findings

No curated finding names lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal