A Detachable Penis
kiwifarms.net
- Registrado
- 12 de Nov, 2018
Feelsbadman. Only worse cases show up before birth, with 2 and 6 only after birth. Here's a choice line about type 2:Here's a story about a sped family who are NOT treading into LOLCOW territory. They didn't know their daughter had a rare genetic disorder until after she was born, and they seem to just take it a day at a time.
"No patient with the classical PCH type 2 ever achieved the milestones of sitting, crawling, standing, walking, talking, or developed meaningful social contact skills. Visual fixation is persistently poor and only about one third of these patients are able to fixate and follow."
What a fucking horrifying life.
Another odd thing is that type 2 is a mutation in three tRNA splicing endonucleases, but type 6 is a mitrochondrial mutation? And that's like, for sure, there's genetic tests to screen for either. So pontocerebellar hypoplasia types are just lumped togdther cause they look similar, but have potentially completely different mechanism.
Another fun fact? The mutation causing mitochondrial disfunction isn't even in a gene. It's in a non-coding region.