| Gender |
|
|
| Male |
50.0% |
2/4 |
| Female |
50.0% |
2/4 |
| Neurology |
|
|
| Neurological abnormalities |
25.0% |
1/4 |
| Abnormality of the corpus callosum |
25.0% |
1/4 |
| Global developmental delay |
25.0% |
1/4 |
| Stereotypic behavior |
25.0% |
1/4 |
| Behavioral problems |
50.0% |
2/4 |
| Sleep disturbance |
50.0% |
2/4 |
| Abnormal aggressive, impulsive or violent behavior |
25.0% |
1/4 |
| Brain abnormality |
33.3% |
1/3 |
| Abnormality of the corpus callosum |
33.3% |
1/3 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
50.0% |
2/4 |
| Low-set ears |
25.0% |
1/4 |
| Prominent ear helix |
25.0% |
1/4 |
| Abnormality of the eye |
100.0% |
4/4 |
| Abnormality of the eyelashes |
25.0% |
1/4 |
| Hypertelorism |
25.0% |
1/4 |
| Long eyelashes |
25.0% |
1/4 |
| Thick eyebrow |
25.0% |
1/4 |
| Abnormality of the nose |
50.0% |
2/4 |
| Abnormality of mouth size |
25.0% |
1/4 |
| Anteverted nares |
25.0% |
1/4 |
| Broad nasal tip |
25.0% |
1/4 |
| Bulbous nose |
25.0% |
1/4 |
| Deep philtrum |
25.0% |
1/4 |
| Diastema |
25.0% |
1/4 |
| Low hanging columella |
25.0% |
1/4 |
| Abnormality of the mouth |
25.0% |
1/4 |
| Wide mouth |
25.0% |
1/4 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
33.3% |
1/3 |
| Hyperopic astigmatism |
33.3% |
1/3 |
| Heart |
|
|
| Abnormality of the heart |
50.0% |
2/4 |
| Abnormality of the mitral valve |
25.0% |
1/4 |
| Patent foramen ovale |
25.0% |
1/4 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
50.0% |
2/4 |
| Constipation |
50.0% |
2/4 |
| Failure to thrive in infancy |
25.0% |
1/4 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
50.0% |
2/4 |
| Cryptorchidism |
25.0% |
1/4 |
| Hydronephrosis |
25.0% |
1/4 |
| Hypospadias |
25.0% |
1/4 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
4/4 |
| Abnormality of digit |
75.0% |
3/4 |
| Abnormality of the hallux |
25.0% |
1/4 |
| Hernia |
25.0% |
1/4 |
| Inguinal hernia |
25.0% |
1/4 |
| Joint hypermobility |
25.0% |
1/4 |
| Prominent interphalangeal joints |
25.0% |
1/4 |
| Scoliosis |
25.0% |
1/4 |
| Umbilical hernia |
25.0% |
1/4 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
50.0% |
2/4 |
| Abnormality of the toenails |
25.0% |
1/4 |
| Aplasia/Hypoplasia of the nails |
25.0% |
1/4 |
| Generalized hypertrichosis |
25.0% |
1/4 |