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Familial monosomy 7 syndrome

MedGen UID:
941582
Concept ID:
CN258546
Disease or Syndrome
Synonym: Monosomy 7 myelodysplasia and leukemia syndrome
 
Related genes: SAMD9L, SAMD9
 
Monarch Initiative: MONDO:0044645
OMIM® Phenotypic series: PS252270
Orphanet: ORPHA495930

Definition

A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor. [from ORDO]

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