PCGF2
| Percentage | Cases | |
|---|---|---|
| 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 |