Table 2.

TXNL4A-Related Craniofacial Disorders: Frequency of Select Features

Feature# of Persons w/Feature / # AssessedComment
Bilateral choanal stenosis/atresia20/203 persons have had isolated choanal atresia [Goos et al 2017].
Short palpebral fissures11/19
Defects of lower eyelids12/20
Hypertelorism12/17
Prominent nasal bridge17/18
Short philtrum14/17
Thin vermilion of the upper lip10/17
Prominent ears13/17
Preauricular tags10/16
Hearing loss12/19
Micrognathia12/19
Submucous cleft palate or cleft lip/palate10/20
Cardiac defect5/16
Short stature3/17
Normal intellect16/18

From: TXNL4A-Related Craniofacial Disorders

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