| Remarks |
Unaffected carrier; thick, fleshly lips; broad nasal bridge; downturned/pointed nasal tip; high cheek bones; tented/cupid bowed upper lip; gastroesophageal reflux; anxiety; results of exome sequencing show that this father is ~ 3% mosaic for the same mutation in TCF4, c.922+1G>A, that his affected daughter (GM27239) and affected son (GM27273) harbor; unaffected sons are GM27572 and GM27575. |