Pancytopenia-developmental delay syndrome
Synonyms: Trilineage bone marrow failure-developmental delay syndrome
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity) developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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