25-33 Loss of ventilary response to high CO2 and low O2, also in combination with Hirschsprung disease (Haddad)
25 Malformation of midline structures of the forebrain and facial cranium
Blepharophimosis-ptosis-epicanthus GCG FOXL2 14 22-24 Blepharophimosis, ptosis, epicanthus inversus and ovarian failure inversus syndactyly 110100
Figure 7.9 Polyalanine tract expansion disorders. Congenital malformation syndromes associated with (GCG)n expansions. The majority involve genes encoding transcription factor proteins. Adapted and reprinted from Albrecht and Mundlos (2005), copyright 2005, with permission from Elsevier.
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