CAMK2B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/5 |
| Female | 100.0% | 5/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| Neurology | ||
| Neurological abnormalities | 80.0% | 4/5 |
| Generalized tonic-clonic seizures | 40.0% | 2/5 |
| Absence seizures | 20.0% | 1/5 |
| Extra-axial cerebrospinal fluid accumulation | 20.0% | 1/5 |
| Focal seizures with impairment of consciousness or awareness | 20.0% | 1/5 |
| Generalized hypotonia | 20.0% | 1/5 |
| Intellectual disability | 20.0% | 1/5 |
| Migraine | 20.0% | 1/5 |
| Multifocal epileptiform discharges | 20.0% | 1/5 |
| Status epilepticus | 20.0% | 1/5 |
| Behavioral problems | 100.0% | 3/3 |
| Autistic behavior | 66.7% | 2/3 |
| Abnormal aggressive, impulsive or violent behavior | 33.3% | 1/3 |
| Hyperactivity | 33.3% | 1/3 |
| Self-mutilation | 33.3% | 1/3 |
| Short attention span | 33.3% | 1/3 |
| Brain abnormality | 60.0% | 3/5 |
| Abnormality of the corpus callosum | 20.0% | 1/5 |
| Cortical dysplasia | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 1/5 |
| Protruding ear | 20.0% | 1/5 |
| Abnormality of the eye | 60.0% | 3/5 |
| Strabismus | 40.0% | 2/5 |
| Abnormality of refraction | 20.0% | 1/5 |
| Abnormality of the nose | 20.0% | 1/5 |
| Synophrys | 20.0% | 1/5 |
| Abnormality of the mouth | 40.0% | 2/5 |
| Open mouth | 20.0% | 1/5 |
| Thick lower lip vermilion | 20.0% | 1/5 |
| Visual and hearing impairments | ||
| Abnormal vision | 60.0% | 3/5 |
| Abnormality of refraction | 20.0% | 1/5 |
| Astigmatism | 20.0% | 1/5 |
| Cortical visual impairment | 20.0% | 1/5 |
| Hypermetropia | 20.0% | 1/5 |
| Strabismus | 20.0% | 1/5 |
| Heart | ||
| Abnormality of the heart | 20.0% | 1/5 |
| Prolonged QT interval | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 60.0% | 3/5 |
| Chronic constipation | 40.0% | 2/5 |
| Feeding difficulties | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 20.0% | 1/5 |
| Generalized hypotonia | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 60.0% | 3/5 |
| Delayed eruption of primary teeth | 20.0% | 1/5 |
| Ectodermal dysplasia | 20.0% | 1/5 |
| Eczema | 20.0% | 1/5 |
| Hirsutism | 20.0% | 1/5 |
| Sparse hair | 20.0% | 1/5 |
| Thin nail | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.0% | 1/5 |
| Hypothyroidism | 20.0% | 1/5 |
| Neoplasia | ||
| Neoplasia | 20.0% | 1/5 |
| Abnormality of the mediastinum | 20.0% | 1/5 |