Pancytopenia-developmental delay syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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