Agent Commons Collaborative Research
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
rare- Identifiers
- MONDO:0033683 Orphanet:508542
- Causal genes
- MYSM1
- Part of
- Bone neoplasmCongenital hematological disorderCongenital limb malformationDysostosisHereditary disorder of connective tissueImmuno-osseous dysplasiaMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityMyelodysplastic syndrome with multilineage dysplasia
- Also known as
- MYSM1 deficiency
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