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Polydactyly, postaxial, type A2(PAPA2)

MedGen UID:
356392
•Concept ID:
C1865883
•
Disease or Syndrome
Synonyms: Papa2; Polydactyly, Postaxial, Type A2; Postaxial Polydactyly, Type A2
 
Monarch Initiative: MONDO:0011187
OMIM®: 602085

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
•Concept ID:
C0431904
•
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
See: Feature record | Search on this feature

Recent clinical studies

Diagnosis

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Kannu P, Campos-Xavier AB, Hull D, Martinet D, Ballhausen D, Bonafé L
Eur J Med Genet 2013 Aug;56(8):452-7. Epub 2013 Jun 20 doi: 10.1016/j.ejmg.2013.06.001. PMID: 23792790

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