Table 2.

SALL1-Related Townes-Brocks Syndrome: Frequency of Select Features

Feature% of Persons w/FeatureComment
Imperforate anus or anal stenosis70%
Dysplastic ears87%
Thumb malformations76%Without hypoplasia of the radius
Sensorineural &/or conductive hearing impairment62%
Foot malformations43%
Kidney anomalies &/or impaired kidney function40%
Genitourinary malformations22%
Congenital heart disease15%
Developmental delay / learning difficulties15%

Based on 165 affected individuals from 101 families with a confirmed SALL1 pathogenic variant

From: SALL1-Related Townes-Brocks Syndrome

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