Version: 8.0.0
Date: Tue Jan 28 2025
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
DOID:0111897
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Definition
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
Synonyms
  • DBA14
Cross References
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