If anyone is wondering, this looks a bit like a syndromic set of phenotypes resulting from the mutation(s) in DHDDS. The mutations are hitting a really bad part

If anyone is wondering, this looks a bit like a syndromic set of phenotypes resulting from the mutation(s) in DHDDS. The mutations are hitting a really bad part in the glycosylation pathways, where I can imagine impacts on a massive number of proteins. I’m assuming this is a hypomorph, as if you lost function of this gene completely, it’s hard to see how any cell can survive.