Genetics

DDX11 gene

COG5-congenital disorder of glycosylation

Granulomatosis with polyangiitis

X-linked sideroblastic anemia

Otulipenia

Björnstad syndrome

SYNGAP1 gene

Spastic paraplegia type 3A

X-linked hyper IgM syndrome

EDNRB gene

PNPO gene

RECQL4 gene