SMARCC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 80.0% | 12/15 |
| Female | 20.0% | 3/15 |
| Indifferent | 0% | 0/15 |
| Unknown | 0% | 0/15 |
| General | ||
| Birth Length abnormalities | 0% | 0/15 |
| Birth Weight abnormalities | 0% | 0/15 |
| Birth Head circumference abnormalities | 0% | 0/15 |
| Current Height abnormalities | 0% | 0/15 |
| Current Weight abnormalities | 0% | 0/15 |
| Current Head circumference abnormalities | 0% | 0/15 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 15/15 |
| Muscular hypotonia | 80.0% | 12/15 |
| Seizures | 26.7% | 4/15 |
| Spasticity | 20.0% | 3/15 |
| Abnormality of movement | 13.3% | 2/15 |
| Behavioral problems | 66.7% | 10/15 |
| Behavioral abnormality | 60.0% | 9/15 |
| Brain abnormality | 50.0% | 6/12 |
| Abnormality of the corpus callosum | 25.0% | 3/12 |
| Generalized cerebral atrophy/hypoplasia | 16.7% | 2/12 |
| Abnormality of the periventricular white matter | 8.3% | 1/12 |
| Abnormality of the globus pallidus | 8.3% | 1/12 |
| CNS hypomyelination | 8.3% | 1/12 |
| Focal white matter lesions | 8.3% | 1/12 |
| Perivascular spaces | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the eye | 33.3% | 5/15 |
| Ptosis | 33.3% | 5/15 |
| Abnormality of the nose | 40.0% | 6/15 |
| Anteverted nares | 40.0% | 6/15 |
| Abnormality of the mouth | 73.3% | 11/15 |
| Thin upper lip vermilion | 40.0% | 6/15 |
| Thick lower lip vermilion | 33.3% | 5/15 |
| Abnormality of the palate | 20.0% | 3/15 |
| Visual and hearing impairments | ||
| Abnormal vision | 6.7% | 1/15 |
| Abnormality of vision | 6.7% | 1/15 |
| Heart | ||
| Abnormality of the heart | 18.2% | 2/11 |
| Abnormality of the coronary arteries | 9.1% | 1/11 |
| Aortic aneurysm | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 15.4% | 2/13 |
| Cryptorchidism | 15.4% | 2/13 |
| Skeleton | ||
| Skeletal abnormalities | 53.3% | 8/15 |
| Scoliosis | 26.7% | 4/15 |
| Abnormality of the 5th finger | 20.0% | 3/15 |
| Abnormality of the 5th toe | 13.3% | 2/15 |
| Camptodactyly of toe | 6.7% | 1/15 |
| Camptodactyly of finger | 6.7% | 1/15 |
| Kyphosis | 6.7% | 1/15 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 73.3% | 11/15 |
| Hypertrichosis | 40.0% | 6/15 |
| Thick eyebrow | 40.0% | 6/15 |
| Long eyelashes | 33.3% | 5/15 |
| Sparse scalp hair | 26.7% | 4/15 |
| Eczema | 20.0% | 3/15 |
| Cafe-au-lait spot | 6.7% | 1/15 |
| Hypomelanotic macule | 6.7% | 1/15 |
| Hypopigmentation of hair | 6.7% | 1/15 |
| Irregular hyperpigmentation of back | 6.7% | 1/15 |
| Scleroderma | 6.7% | 1/15 |
| Vitiligo | 6.7% | 1/15 |