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 |