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ENMacrostomia, Isolated
Alias:
Macrostomia
Transverse Facial Cleft
Tessier Number 7 Facial Cleft
Commissural Cleft, Isolated
Transverse Cleft, Isolated
Commissural Facial Cleft
Lateral Cleft, Isolated
Congenital Macrostomia
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Macrostomia, Isolated, also known as macrostomia, is related to ablepharon-macrostomia syndrome and barber-say syndrome. An important gene associated with Macrostomia, Isolated is PTCH2 (Patched 2). Affiliated tissues include tongue and eye, and related phenotype is Decreased shRNA abundance.
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MALACARDS
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