Gender |
|
|
Male |
0% |
0/5 |
Female |
100.0% |
5/5 |
Indifferent |
0% |
0/5 |
Unknown |
0% |
0/5 |
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 |