Gender |
|
|
Male |
100.0% |
1/1 |
Female |
0% |
0/1 |
Indifferent |
0% |
0/1 |
Unknown |
0% |
0/1 |
Neurology |
|
|
Neurological abnormalities |
100.0% |
1/1 |
Muscular hypotonia |
100.0% |
1/1 |
Poor coordination |
100.0% |
1/1 |
Brain abnormality |
100.0% |
1/1 |
Abnormality of the cerebral white matter |
100.0% |
1/1 |
Aplasia/Hypoplasia of the corpus callosum |
100.0% |
1/1 |
Facial abnormalities |
|
|
Abnormality of the ear |
100.0% |
1/1 |
Satyr ear |
100.0% |
1/1 |
Abnormality of the eye |
100.0% |
1/1 |
Downslanted palpebral fissures |
100.0% |
1/1 |
Small palpebral fissure |
100.0% |
1/1 |
Abnormality of the nose |
100.0% |
1/1 |
Prominent nasal tip |
100.0% |
1/1 |
Abnormality of the mouth |
100.0% |
1/1 |
High palate |
100.0% |
1/1 |
Narrow mouth |
100.0% |
1/1 |
Visual and hearing impairments |
|
|
Abnormal hearing |
100.0% |
1/1 |
Conductive hearing impairment |
100.0% |
1/1 |
Heart |
|
|
Abnormality of the heart |
100.0% |
1/1 |
Aortic root dilatation |
100.0% |
1/1 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
100.0% |
1/1 |
Constipation |
100.0% |
1/1 |
Drooling |
100.0% |
1/1 |
Feeding difficulties in infancy |
100.0% |
1/1 |
Skeleton |
|
|
Skeletal abnormalities |
100.0% |
1/1 |
Calcaneovalgus deformity |
100.0% |
1/1 |
Delayed epiphyseal ossification |
100.0% |
1/1 |
Pseudoepiphyses of the metacarpals |
100.0% |
1/1 |
Tapering pointed ends of distal finger phalanges |
100.0% |
1/1 |
Thoracolumbar kyphosis |
100.0% |
1/1 |
Vertebral hypoplasia |
100.0% |
1/1 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
100.0% |
1/1 |
Sparse scalp hair |
100.0% |
1/1 |