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 |
Hypoplasia of the corpus callosum |
56.3% |
9/16 |
Cortical dysplasia |
25.0% |
4/16 |
Ventriculomegaly |
62.5% |
10/16 |
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 |