| Gender |
|
|
| Male |
100.0% |
1/1 |
| Female |
0% |
0/1 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
1/1 |
| Appendicular hypotonia |
100.0% |
1/1 |
| Central apnea |
100.0% |
1/1 |
| Infantile spasms |
100.0% |
1/1 |
| Spasticity |
100.0% |
1/1 |
| Behavioral problems |
100.0% |
1/1 |
| Agitation |
100.0% |
1/1 |
| Irritability |
100.0% |
1/1 |
| Sleep disturbance |
100.0% |
1/1 |
| Stereotypic behavior |
100.0% |
1/1 |
| Brain abnormality |
100.0% |
1/1 |
| Delayed myelination |
100.0% |
1/1 |
| Progressive microcephaly |
100.0% |
1/1 |
| Facial abnormalities |
|
|
| Abnormality of the nose |
100.0% |
1/1 |
| Depressed nasal bridge |
100.0% |
1/1 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
100.0% |
1/1 |
| Congenital cataract |
100.0% |
1/1 |
| Cortical visual impairment |
100.0% |
1/1 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
100.0% |
1/1 |
| Gastroesophageal reflux |
100.0% |
1/1 |
| Oral-pharyngeal dysphagia |
100.0% |
1/1 |
| Severe failure to thrive |
100.0% |
1/1 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
1/1 |
| Dysharmonic delayed bone age |
100.0% |
1/1 |