| Gender |
|
|
| Male |
50.0% |
3/6 |
| Female |
50.0% |
3/6 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
6/6 |
| Infantile axial hypotonia |
66.7% |
4/6 |
| Generalized hypotonia |
50.0% |
3/6 |
| Areflexia |
33.3% |
2/6 |
| Distal muscle weakness |
33.3% |
2/6 |
| Dysphagia |
16.7% |
1/6 |
| Limb muscle weakness |
16.7% |
1/6 |
| Myopathy |
16.7% |
1/6 |
| Waddling gait |
16.7% |
1/6 |
| Behavioral problems |
16.7% |
1/6 |
| Attention deficit hyperactivity disorder |
16.7% |
1/6 |
| Brain abnormality |
40.0% |
2/5 |
| Delayed CNS myelination |
20.0% |
1/5 |
| Focal seizures |
20.0% |
1/5 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
33.3% |
2/6 |
| Low-set ears |
16.7% |
1/6 |
| Posteriorly rotated ears |
16.7% |
1/6 |
| Abnormality of the eye |
100.0% |
5/5 |
| Ptosis |
100.0% |
5/5 |
| Abnormality of the nose |
16.7% |
1/6 |
| Depressed nasal ridge |
16.7% |
1/6 |
| Abnormality of the mouth |
40.0% |
2/5 |
| High palate |
40.0% |
2/5 |
| Micrognathia |
20.0% |
1/5 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
16.7% |
1/6 |
| Conductive hearing impairment |
16.7% |
1/6 |
| Abnormal vision |
16.7% |
1/6 |
| Gaze-evoked nystagmus |
16.7% |
1/6 |
| Vertical nystagmus |
16.7% |
1/6 |
| Heart |
|
|
| Abnormality of the heart |
20.0% |
1/5 |
| Hypertension |
20.0% |
1/5 |
| Pulmonary |
|
|
| Abnormality of the lungs |
16.7% |
1/6 |
| Diaphragmatic eventration |
16.7% |
1/6 |
| Respiratory insufficiency |
16.7% |
1/6 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
33.3% |
2/6 |
| Gastrostomy tube feeding in infancy |
16.7% |
1/6 |
| Intestinal pseudo-obstruction |
16.7% |
1/6 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
33.3% |
2/6 |
| Cryptorchidism |
16.7% |
1/6 |
| Cystocele |
16.7% |
1/6 |
| Hydronephrosis |
16.7% |
1/6 |
| Renal atrophy |
16.7% |
1/6 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
6/6 |
| Scoliosis |
83.3% |
5/6 |
| Bell-shaped thorax |
16.7% |
1/6 |
| Flexion contracture |
16.7% |
1/6 |
| Thoracolumbar scoliosis |
16.7% |
1/6 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
16.7% |
1/6 |
| Hypogonadism |
16.7% |
1/6 |