CLCN4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.7% | 11/17 |
| Female | 35.3% | 6/17 |
| Indifferent | 0% | 0/17 |
| Unknown | 0% | 0/17 |
| General | ||
| Birth Length abnormalities | 0% | 0/16 |
| Birth Weight abnormalities | 0% | 0/16 |
| Birth Head circumference abnormalities | 0% | 0/16 |
| Current Height abnormalities | 18.8% | 3/16 |
| > P98 : Tall stature | 6.3% | 1/16 |
| < P3 : Short stature | 12.5% | 2/16 |
| Current Weight abnormalities | 6.3% | 1/16 |
| < P3 : Decreased body weight | 6.3% | 1/16 |
| Current Head circumference abnormalities | 31.3% | 5/16 |
| > P98 : Macrocephaly | 6.3% | 1/16 |
| < P3 : Microcephaly | 25.0% | 4/16 |
| Neurology | ||
| Neurological abnormalities | 93.8% | 15/16 |
| Infantile axial hypotonia | 50.0% | 8/16 |
| Absence seizures | 18.8% | 3/16 |
| Generalized tonic-clonic seizures | 18.8% | 3/16 |
| Progressive spasticity | 18.8% | 3/16 |
| Focal seizures with impairment of consciousness or awareness | 12.5% | 2/16 |
| Bilateral convulsive seizures | 6.3% | 1/16 |
| Broad-based gait | 6.3% | 1/16 |
| Central hypotonia | 6.3% | 1/16 |
| Dystonia | 6.3% | 1/16 |
| Focal EEG discharges with secondary generalization | 6.3% | 1/16 |
| Focal autonomic seizures with altered responsiveness | 6.3% | 1/16 |
| Generalized seizures | 6.3% | 1/16 |
| Generalized myoclonic seizures | 6.3% | 1/16 |
| Infantile spasms | 6.3% | 1/16 |
| Motor tics | 6.3% | 1/16 |
| Strabismus | 6.3% | 1/16 |
| Behavioral problems | 56.3% | 9/16 |
| Aggressive behavior | 18.8% | 3/16 |
| Anxiety | 12.5% | 2/16 |
| Depression | 12.5% | 2/16 |
| Hyperactivity | 12.5% | 2/16 |
| Obsessive-compulsive behavior | 12.5% | 2/16 |
| Autism with high cognitive abilities | 6.3% | 1/16 |
| Autistic behavior | 6.3% | 1/16 |
| Bipolar affective disorder | 6.3% | 1/16 |
| Progressive spasticity | 6.3% | 1/16 |
| Sleep disturbance | 6.3% | 1/16 |
| Brain abnormality | 46.7% | 7/15 |
| Aplasia/Hypoplasia of the corpus callosum | 13.3% | 2/15 |
| Cerebral atrophy | 13.3% | 2/15 |
| Abnormality of the third ventricle | 6.7% | 1/15 |
| Abnormality of the periventricular white matter | 6.7% | 1/15 |
| Abnormality of the cerebral white matter | 6.7% | 1/15 |
| Cerebral cortical atrophy | 6.7% | 1/15 |
| Perivascular spaces | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 6.3% | 1/16 |
| Long face | 6.3% | 1/16 |
| Abnormality of the eye | 6.3% | 1/16 |
| Strabismus | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal hearing | 6.3% | 1/16 |
| Strabismus | 6.3% | 1/16 |
| Abnormal vision | 13.3% | 2/15 |
| Cortical visual impairment | 6.7% | 1/15 |
| Strabismus | 6.7% | 1/15 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 25.0% | 4/16 |
| Gastroesophageal reflux | 18.8% | 3/16 |
| Feeding difficulties | 6.3% | 1/16 |
| Feeding difficulties in infancy | 6.3% | 1/16 |
| Urogenital | ||
| Abnormality of the urogenital system | 6.7% | 1/15 |
| Bilateral cryptorchidism | 6.7% | 1/15 |
| Skeleton | ||
| Skeletal abnormalities | 18.8% | 3/16 |
| Scoliosis | 12.5% | 2/16 |
| Hypermobility of toe joints | 6.3% | 1/16 |