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Table 3 Common (> 50%) medical findings

From: Prospective and detailed behavioral phenotyping in DDX3X syndrome

Feature Percentage n
Gait abnormalities 100 15/15
Hypotonia 93 14/15
Malar hypoplasia 93 13/14
Flat midface 93 13/14
Structural brain changes 86 12/14
 Corpus callosum abnormalities 64 9/14
 Key-hole shaped temporal horns 50 7/14
 Enlarged ventricles 43 6/14
 White matter abnormalities 43 6/14
 Vermis abnormalities 21 3/14
Gastrointestinal problems 80 12/15
 Constipation 53 8/15
 Reflux 53 8/15
Ocular abnormalities 73 11/15
 Strabismus 40 6/15
 Astigmatism 33 5/15
 Myopia 20 3/15
 Amblyopia 13 2/15
 Hyperopia 13 2/15
Sleep disturbance 67 10/15
Feeding issues 67 10/15
Hyperextensibility 64 9/14
Pigmented skin lesions 62 8/13
Bulbous nose 57 8/14
High arched palate 57 8/14
Recurrent infections 53 8/15
 Otitis media 40 6/15
 Urinary tract 20 3/15
 Respiratory tract 20 3/15
Pointed chin 50 7/14