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. 2014 Mar 6;94(3):405–414. doi: 10.1016/j.ajhg.2014.01.020

Figure 1.

Figure 1

Clinical Features of One DBQD Type 2 Subject with XYLT1 Mutation

Individual 7 (family 6) at 12 months. Note the flat face, narrow thorax, short limbs (A) with hip dislocation, hyperlaxity of fingers (B), and deviation of toes (C).