CAMK2B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/6 |
| Female | 100.0% | 6/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 20.0% | 1/5 |
| < P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
| Birth Weight abnormalities | 20.0% | 1/5 |
| < P3 : Small for gestational age | 20.0% | 1/5 |
| Birth Head circumference abnormalities | 50.0% | 2/4 |
| < P3 : Congenital microcephaly | 50.0% | 2/4 |
| Current Height abnormalities | 40.0% | 2/5 |
| < P3 : Short stature | 40.0% | 2/5 |
| Current Weight abnormalities | 40.0% | 2/5 |
| < P3 : Decreased body weight | 40.0% | 2/5 |
| Current Head circumference abnormalities | 60.0% | 3/5 |
| < P3 : Microcephaly | 60.0% | 3/5 |
| Neurology | ||
| Neurological abnormalities | 83.3% | 5/6 |
| Generalized tonic-clonic seizures | 33.3% | 2/6 |
| Absence seizures | 16.7% | 1/6 |
| Extra-axial cerebrospinal fluid accumulation | 16.7% | 1/6 |
| Focal seizures with impairment of consciousness or awareness | 16.7% | 1/6 |
| Generalized hypotonia | 16.7% | 1/6 |
| Intellectual disability | 16.7% | 1/6 |
| Migraine | 16.7% | 1/6 |
| Multifocal epileptiform discharges | 16.7% | 1/6 |
| Status epilepticus | 16.7% | 1/6 |
| Behavioral problems | 100.0% | 4/4 |
| Autistic behavior | 50.0% | 2/4 |
| Abnormal aggressive, impulsive or violent behavior | 25.0% | 1/4 |
| Hyperactivity | 25.0% | 1/4 |
| Self-mutilation | 25.0% | 1/4 |
| Short attention span | 25.0% | 1/4 |
| Brain abnormality | 66.7% | 4/6 |
| Abnormality of the corpus callosum | 16.7% | 1/6 |
| Abnormality of the meninges | 16.7% | 1/6 |
| Cortical dysplasia | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 16.7% | 1/6 |
| Protruding ear | 16.7% | 1/6 |
| Abnormality of the eye | 50.0% | 3/6 |
| Strabismus | 33.3% | 2/6 |
| Abnormality of refraction | 16.7% | 1/6 |
| Abnormality of the nose | 16.7% | 1/6 |
| Synophrys | 16.7% | 1/6 |
| Abnormality of the mouth | 33.3% | 2/6 |
| Open mouth | 16.7% | 1/6 |
| Thick lower lip vermilion | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal vision | 66.7% | 4/6 |
| Abnormality of refraction | 16.7% | 1/6 |
| Astigmatism | 16.7% | 1/6 |
| Cortical visual impairment | 16.7% | 1/6 |
| Hypermetropia | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 16.7% | 1/6 |
| Prolonged QT interval | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 3/6 |
| Chronic constipation | 33.3% | 2/6 |
| Feeding difficulties | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 16.7% | 1/6 |
| Generalized hypotonia | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 66.7% | 4/6 |
| Delayed eruption of primary teeth | 16.7% | 1/6 |
| Ectodermal dysplasia | 16.7% | 1/6 |
| Eczema | 16.7% | 1/6 |
| Hirsutism | 16.7% | 1/6 |
| Sparse hair | 16.7% | 1/6 |
| Thin nail | 16.7% | 1/6 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 16.7% | 1/6 |
| Hypothyroidism | 16.7% | 1/6 |
| Neoplasia | ||
| Neoplasia | 33.3% | 2/6 |
| Abnormality of the mediastinum | 16.7% | 1/6 |
| Cutaneous leiomyoma | 16.7% | 1/6 |