RAB27A

Um, and then before that, they had consulted the literature and, uh, noted that some familial forms of HLH are associated with a, a primarily neurological manifestation.

And so they did genetic testing and found that she was homozygous, uh, for a, uh, a variant in the RAB27A gene, which is, uh, specifically associated with a type of familial HLH called Griscelli syndrome, type 2 specifically.

And is that, that's a recessive disorder, is it? Um-

Yes, yes.