Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Aplastic and other anaemias
Autosomal recessive
7q11.21
Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 260400.1 | Saudi Arabia | Female | Yes | Global developmental delay; Microcephaly Global developmental delay; Microcephaly  | NM_016038.4:c.258+2T>C | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |