| Gender |
|
|
| Male |
0% |
0/5 |
| Female |
100.0% |
5/5 |
| Neurology |
|
|
| Neurological abnormalities |
80.0% |
4/5 |
| Generalized tonic-clonic seizures |
40.0% |
2/5 |
| Absence seizures |
20.0% |
1/5 |
| Extra-axial cerebrospinal fluid accumulation |
20.0% |
1/5 |
| Focal seizures with impairment of consciousness or awareness |
20.0% |
1/5 |
| Generalized hypotonia |
20.0% |
1/5 |
| Intellectual disability |
20.0% |
1/5 |
| Migraine |
20.0% |
1/5 |
| Multifocal epileptiform discharges |
20.0% |
1/5 |
| Status epilepticus |
20.0% |
1/5 |
| Behavioral problems |
100.0% |
3/3 |
| Autistic behavior |
66.7% |
2/3 |
| Abnormal aggressive, impulsive or violent behavior |
33.3% |
1/3 |
| Hyperactivity |
33.3% |
1/3 |
| Self-mutilation |
33.3% |
1/3 |
| Short attention span |
33.3% |
1/3 |
| Brain abnormality |
60.0% |
3/5 |
| Abnormality of the corpus callosum |
20.0% |
1/5 |
| Cortical dysplasia |
20.0% |
1/5 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
20.0% |
1/5 |
| Protruding ear |
20.0% |
1/5 |
| Abnormality of the eye |
60.0% |
3/5 |
| Strabismus |
40.0% |
2/5 |
| Abnormality of refraction |
20.0% |
1/5 |
| Abnormality of the nose |
20.0% |
1/5 |
| Synophrys |
20.0% |
1/5 |
| Abnormality of the mouth |
40.0% |
2/5 |
| Open mouth |
20.0% |
1/5 |
| Thick lower lip vermilion |
20.0% |
1/5 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
60.0% |
3/5 |
| Abnormality of refraction |
20.0% |
1/5 |
| Astigmatism |
20.0% |
1/5 |
| Cortical visual impairment |
20.0% |
1/5 |
| Hypermetropia |
20.0% |
1/5 |
| Strabismus |
20.0% |
1/5 |
| Heart |
|
|
| Abnormality of the heart |
20.0% |
1/5 |
| Prolonged QT interval |
20.0% |
1/5 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
60.0% |
3/5 |
| Chronic constipation |
40.0% |
2/5 |
| Feeding difficulties |
20.0% |
1/5 |
| Skeleton |
|
|
| Skeletal abnormalities |
20.0% |
1/5 |
| Generalized hypotonia |
20.0% |
1/5 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
60.0% |
3/5 |
| Delayed eruption of primary teeth |
20.0% |
1/5 |
| Ectodermal dysplasia |
20.0% |
1/5 |
| Eczema |
20.0% |
1/5 |
| Hirsutism |
20.0% |
1/5 |
| Sparse hair |
20.0% |
1/5 |
| Thin nail |
20.0% |
1/5 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
20.0% |
1/5 |
| Hypothyroidism |
20.0% |
1/5 |
| Neoplasia |
|
|
| Neoplasia |
20.0% |
1/5 |
| Abnormality of the mediastinum |
20.0% |
1/5 |