CHKB
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.3% | 27/48 |
| Female | 43.8% | 21/48 |
| Indifferent | 0% | 0/48 |
| Unknown | 0% | 0/48 |
| General | ||
| Birth Length abnormalities | 0% | 0/48 |
| Birth Weight abnormalities | 0% | 0/48 |
| Birth Head circumference abnormalities | 0% | 0/48 |
| Current Height abnormalities | 0% | 0/48 |
| Current Weight abnormalities | 0% | 0/48 |
| Current Head circumference abnormalities | 18.8% | 9/48 |
| < P3 : Microcephaly | 18.8% | 9/48 |
| Neurology | ||
| Neurological abnormalities | 18.8% | 9/48 |
| Generalized seizures | 10.4% | 5/48 |
| Seizures | 6.3% | 3/48 |
| Generalized tonic seizures | 2.1% | 1/48 |
| Behavioral problems | 45.8% | 22/48 |
| Autism | 37.5% | 18/48 |
| Attention deficit hyperactivity disorder | 6.3% | 3/48 |
| Mutism | 2.1% | 1/48 |
| Brain abnormality | 30.0% | 9/30 |
| Abnormal brain choline/creatine ratio by MRS | 6.7% | 2/30 |
| Hypoplasia of the corpus callosum | 6.7% | 2/30 |
| Abnormal metabolic brain imaging by MRS | 3.3% | 1/30 |
| Cavum septum pellucidum | 3.3% | 1/30 |
| Delayed myelination | 3.3% | 1/30 |
| Dilation of lateral ventricles | 3.3% | 1/30 |
| Enlarged cisterna magna | 3.3% | 1/30 |
| Visual and hearing impairments | ||
| Abnormal hearing | 4.2% | 2/48 |
| Sensorineural hearing impairment | 4.2% | 2/48 |
| Heart | ||
| Abnormality of the heart | 43.9% | 18/41 |
| Dilated cardiomyopathy | 36.6% | 15/41 |
| Congestive heart failure | 9.8% | 4/41 |
| Sudden cardiac death | 7.3% | 3/41 |
| Mitral valve prolapse | 2.4% | 1/41 |
| Patent ductus arteriosus | 2.4% | 1/41 |
| Secundum atrial septal defect | 2.4% | 1/41 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 4.2% | 2/48 |
| Acute pancreatitis | 2.1% | 1/48 |
| Feeding difficulties | 2.1% | 1/48 |
| Skeleton | ||
| Skeletal abnormalities | 2.1% | 1/48 |
| Scoliosis | 2.1% | 1/48 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 45.7% | 21/46 |
| Ichthyosis | 43.5% | 20/46 |
| Eczema | 4.3% | 2/46 |
| Atopic dermatitis | 2.2% | 1/46 |