Diamond-Blackfan syndrome (congenital erythroid hypoplasia)

Introduction

Congenital erythroid hypoplasia. Most cases sporadic, some dominant or recessive forms. Significant linkage to chromosome 19q13 in both dominant & recessive forms.

More general terms

• pure red cell aplasia; erythrocyte aplasia
• genetic disease of the blood/bone marrow

Patient information

Diamond-Blackfan syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/205900