SMARCC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 12/18 |
| Female | 33.3% | 6/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 0% | 0/18 |
| Birth Weight abnormalities | 0% | 0/18 |
| Birth Head circumference abnormalities | 0% | 0/18 |
| Current Height abnormalities | 5.6% | 1/18 |
| < P3 : Short stature | 5.6% | 1/18 |
| Current Weight abnormalities | 11.1% | 2/18 |
| > P98 : Increased body weight | 5.6% | 1/18 |
| < P3 : Decreased body weight | 5.6% | 1/18 |
| Current Head circumference abnormalities | 5.6% | 1/18 |
| > P98 : Macrocephaly | 5.6% | 1/18 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 18/18 |
| Muscular hypotonia | 83.3% | 15/18 |
| Seizures | 27.8% | 5/18 |
| Spasticity | 16.7% | 3/18 |
| Abnormality of movement | 11.1% | 2/18 |
| Generalized seizures | 11.1% | 2/18 |
| Broad-based gait | 5.6% | 1/18 |
| Dysphagia | 5.6% | 1/18 |
| EEG abnormality | 5.6% | 1/18 |
| Hand muscle weakness | 5.6% | 1/18 |
| Tremor | 5.6% | 1/18 |
| Behavioral problems | 66.7% | 12/18 |
| Behavioral abnormality | 55.6% | 10/18 |
| Absent speech | 11.1% | 2/18 |
| Brain abnormality | 57.1% | 8/14 |
| Abnormality of the corpus callosum | 21.4% | 3/14 |
| Generalized cerebral atrophy/hypoplasia | 14.3% | 2/14 |
| Abnormality of the globus pallidus | 7.1% | 1/14 |
| Abnormality of the periventricular white matter | 7.1% | 1/14 |
| Abnormality of the cerebral vasculature | 7.1% | 1/14 |
| Arachnoid cyst | 7.1% | 1/14 |
| CNS hypomyelination | 7.1% | 1/14 |
| Focal white matter lesions | 7.1% | 1/14 |
| Hypoplasia of the corpus callosum | 7.1% | 1/14 |
| Perivascular spaces | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the eye | 44.4% | 8/18 |
| Ptosis | 27.8% | 5/18 |
| Deeply set eye | 5.6% | 1/18 |
| Hypertelorism | 5.6% | 1/18 |
| Long palpebral fissure | 5.6% | 1/18 |
| Telecanthus | 5.6% | 1/18 |
| Abnormality of the nose | 38.9% | 7/18 |
| Anteverted nares | 33.3% | 6/18 |
| Broad nasal tip | 5.6% | 1/18 |
| Abnormality of the mouth | 77.8% | 14/18 |
| Thin upper lip vermilion | 38.9% | 7/18 |
| Thick lower lip vermilion | 33.3% | 6/18 |
| Abnormality of the palate | 16.7% | 3/18 |
| Micrognathia | 5.6% | 1/18 |
| Open mouth | 5.6% | 1/18 |
| Widely spaced teeth | 5.6% | 1/18 |
| Visual and hearing impairments | ||
| Abnormal vision | 5.6% | 1/18 |
| Abnormality of vision | 5.6% | 1/18 |
| Heart | ||
| Abnormality of the heart | 14.3% | 2/14 |
| Abnormality of the coronary arteries | 7.1% | 1/14 |
| Aortic aneurysm | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 5.6% | 1/18 |
| Vomiting | 5.6% | 1/18 |
| Urogenital | ||
| Abnormality of the urogenital system | 18.8% | 3/16 |
| Cryptorchidism | 12.5% | 2/16 |
| Oligomenorrhea | 6.3% | 1/16 |
| Skeleton | ||
| Skeletal abnormalities | 55.6% | 10/18 |
| Scoliosis | 27.8% | 5/18 |
| Abnormality of the 5th finger | 16.7% | 3/18 |
| Abnormality of the 5th toe | 11.1% | 2/18 |
| Abnormal form of the vertebral bodies | 5.6% | 1/18 |
| Camptodactyly of finger | 5.6% | 1/18 |
| Camptodactyly of toe | 5.6% | 1/18 |
| Hallux valgus | 5.6% | 1/18 |
| Kyphosis | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 72.2% | 13/18 |
| Hypertrichosis | 33.3% | 6/18 |
| Thick eyebrow | 33.3% | 6/18 |
| Long eyelashes | 27.8% | 5/18 |
| Sparse scalp hair | 22.2% | 4/18 |
| Eczema | 16.7% | 3/18 |
| Cafe-au-lait spot | 5.6% | 1/18 |
| Curly hair | 5.6% | 1/18 |
| Fine hair | 5.6% | 1/18 |
| Hirsutism | 5.6% | 1/18 |
| Hypomelanotic macule | 5.6% | 1/18 |
| Hypopigmented skin patches | 5.6% | 1/18 |
| Hypopigmentation of hair | 5.6% | 1/18 |
| Irregular hyperpigmentation of back | 5.6% | 1/18 |
| Palmoplantar keratoderma | 5.6% | 1/18 |
| Prominent fingertip pads | 5.6% | 1/18 |
| Scleroderma | 5.6% | 1/18 |
| Vitiligo | 5.6% | 1/18 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 5.6% | 1/18 |
| Hypokalemia | 5.6% | 1/18 |