Autosomal dominant disorder characterized by cleft palate, congenital cardiac abnormalities, developmental disabilities, facial dysmorphisms, immunodeficiency with parathyroid and thymus abnormalities, and mild to significant bleeding. Caused by microdeletion of chromosome 22q11.2 including the GP1BB gene (encodes glycoprotein 1b-beta [GPIbβ]). Learn more here.
Oct
15
2021