CAMK2B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/4 |
| Female | 100.0% | 4/4 |
| Neurology | ||
| Neurological abnormalities | 75.0% | 3/4 |
| Generalized tonic-clonic seizures | 50.0% | 2/4 |
| Migraine | 25.0% | 1/4 |
| Extra-axial cerebrospinal fluid accumulation | 25.0% | 1/4 |
| Multifocal epileptiform discharges | 25.0% | 1/4 |
| Focal seizures with impairment of consciousness or awareness | 25.0% | 1/4 |
| Absence seizures | 25.0% | 1/4 |
| Status epilepticus | 25.0% | 1/4 |
| Generalized hypotonia | 25.0% | 1/4 |
| Behavioral problems | 100.0% | 2/2 |
| Autistic behavior | 50.0% | 1/2 |
| Abnormal aggressive, impulsive or violent behavior | 50.0% | 1/2 |
| Self-mutilation | 50.0% | 1/2 |
| Short attention span | 50.0% | 1/2 |
| Hyperactivity | 50.0% | 1/2 |
| Brain abnormality | 50.0% | 2/4 |
| Abnormality of the meninges | 25.0% | 1/4 |
| Cortical dysplasia | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 1/4 |
| Protruding ear | 25.0% | 1/4 |
| Abnormality of the eye | 50.0% | 2/4 |
| Strabismus | 25.0% | 1/4 |
| Abnormality of refraction | 25.0% | 1/4 |
| Abnormality of the nose | 25.0% | 1/4 |
| Synophrys | 25.0% | 1/4 |
| Abnormality of the mouth | 25.0% | 1/4 |
| Thick lower lip vermilion | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 2/4 |
| Hypermetropia | 25.0% | 1/4 |
| Astigmatism | 25.0% | 1/4 |
| Abnormality of refraction | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Prolonged QT interval | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 2/4 |
| Feeding difficulties | 25.0% | 1/4 |
| Chronic constipation | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 25.0% | 1/4 |
| Generalized hypotonia | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 75.0% | 3/4 |
| Ectodermal dysplasia | 25.0% | 1/4 |
| Sparse hair | 25.0% | 1/4 |
| Delayed eruption of primary teeth | 25.0% | 1/4 |
| Thin nail | 25.0% | 1/4 |
| Hirsutism | 25.0% | 1/4 |
| Eczema | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 25.0% | 1/4 |
| Hypothyroidism | 25.0% | 1/4 |
| Neoplasia | ||
| Neoplasia | 25.0% | 1/4 |
| Abnormality of the mediastinum | 25.0% | 1/4 |