Pancytopenia-developmental delay syndrome

Orpha code: 401764OMIM code: 615715

Definition

Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder 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.

Disease data
Classification

Disease

Synonyms
Trilineage bone marrow failure-developmental delay syndrome
Zespół trójliniowa niewydolność szpiku-opóźnienie rozwoju
ORPHA code
401764
OMIM code
615715
ICD10 code
D61.0
ICD11 code
-

No additional description.

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