congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Findings

No curated finding names congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Where it sits

A kind of

• bone neoplasm
• congenital hematological disorder
• congenital limb malformation
• dysostosis
• hereditary disorder of connective tissue
• immuno-osseous dysplasia
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• myelodysplastic syndrome with multilineage dysplasia

Resolves to: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Also called

MYSM1 deficiency