DDX3X
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/30 |
| Female | 100.0% | 30/30 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 27/27 |
| Generalized hypotonia | 81.5% | 22/27 |
| Abnormality of movement | 59.3% | 16/27 |
| Seizures | 25.9% | 7/27 |
| Global developmental delay | 3.7% | 1/27 |
| Behavioral problems | 55.2% | 16/29 |
| Behavioral abnormality | 55.2% | 16/29 |
| Brain abnormality | 100.0% | 16/16 |
| Ventriculomegaly | 62.5% | 10/16 |
| Hypoplasia of the corpus callosum | 56.3% | 9/16 |
| Cortical dysplasia | 25.0% | 4/16 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 5/5 |
| Hypertelorism | 100.0% | 5/5 |
| Abnormality of the nose | 100.0% | 14/14 |
| Abnormality of the nasal alae | 71.4% | 10/14 |
| Abnormality of the external nose | 28.6% | 4/14 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Oral cleft | 100.0% | 2/2 |
| Visual and hearing impairments | ||
| Abnormal hearing | 10.0% | 3/30 |
| Hearing impairment | 10.0% | 3/30 |
| Abnormal vision | 33.3% | 10/30 |
| Abnormality of vision | 33.3% | 10/30 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 14/14 |
| Joint laxity | 85.7% | 12/14 |
| Scoliosis | 21.4% | 3/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 10/30 |
| Abnormality of the skin | 33.3% | 10/30 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 4/4 |
| Precocious puberty | 100.0% | 4/4 |