Genetics

PIGA gene

Progressive external ophthalmoplegia

Waldenström macroglobulinemia

Neuroblastoma

Leukoencephalopathy with vanishing white matter

SLC40A1 gene

Zellweger spectrum disorder

KCNJ2 gene

LEMD3 gene

Pallister-Killian mosaic syndrome

Nephrogenic diabetes insipidus

Rippling muscle disease