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Table 1 Phenotype of TCS probands

From: TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Patients Sex Family history Downward slanting palpebral fissures Lower eyelid coloboma Zygomatic hypoplasia Mandibular hypoplasia Microtia Atresia of external ear canal Conductive hearing loss Delayed speech development
2313 F + + + + +
3538 M + + + + + +
2848 M + + + + + + +
2721 F + + + + + + + +
3314 F + + + + + + +
3316 F + + + + + +
3286 M + + + + + + +
3287 M + + + + + + +
3288 M + + + + + + +
3289 F + + + + +
3290 F + + + + + +
3291 F + + + + +
3292 F + + + + + + +
3293 M + + + +