CAMK2A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 2/2 |
| Female | 0% | 0/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 50.0% | 1/2 |
| < P3 : Short stature | 50.0% | 1/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Autism | 100.0% | 1/1 |
| Delayed speech and language development | 100.0% | 1/1 |
| Global developmental delay | 100.0% | 1/1 |
| Behavioral problems | 100.0% | 2/2 |
| Aggressive behavior | 50.0% | 1/2 |
| Attention deficit hyperactivity disorder | 50.0% | 1/2 |
| Self-injurious behavior | 50.0% | 1/2 |
| Brain abnormality | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the cerebellum | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 2/2 |
| Deeply set eye | 50.0% | 1/2 |
| Epicanthus | 50.0% | 1/2 |
| Horizontal eyebrow | 50.0% | 1/2 |
| Abnormality of the nose | 50.0% | 1/2 |
| Long nose | 50.0% | 1/2 |
| Abnormality of the mouth | 50.0% | 1/2 |
| Exaggerated cupid's bow | 50.0% | 1/2 |
| Thick lower lip vermilion | 50.0% | 1/2 |
| Thick upper lip vermilion | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 1/2 |
| Strabismus | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 1/2 |
| Constipation | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Long fingers | 50.0% | 1/2 |
| 2-3 toe syndactyly | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 1/2 |
| Scarring | 50.0% | 1/2 |