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Pancytopenia-developmental delay syndrome
Disease 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.
ORPHA:401764
Classification level: Disorder- Synonym(s):
- Trilineage bone marrow failure-developmental delay syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adolescent
- ICD-10: D61.0
- OMIM: 615715
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Clinical practice guidelines
- Français (2019, pdf)
- English (2009, pdf)
Additional information
Further information on this disease
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