CNTNAP2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 4/7 |
| Female | 42.9% | 3/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/7 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 0% | 0/7 |
| Current Height abnormalities | 14.3% | 1/7 |
| < P3 : Short stature | 14.3% | 1/7 |
| Current Weight abnormalities | 28.6% | 2/7 |
| < P3 : Decreased body weight | 28.6% | 2/7 |
| Current Head circumference abnormalities | 14.3% | 1/7 |
| < P3 : Microcephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 7/7 |
| Generalized tonic-clonic seizures | 71.4% | 5/7 |
| EEG abnormality | 57.1% | 4/7 |
| Focal motor seizures | 42.9% | 3/7 |
| Muscular hypotonia | 42.9% | 3/7 |
| Absence seizures | 28.6% | 2/7 |
| Ataxia | 28.6% | 2/7 |
| EEG with focal spikes | 28.6% | 2/7 |
| Focal seizures with impairment of consciousness or awareness | 28.6% | 2/7 |
| Focal seizures without impairment of consciousness or awareness | 28.6% | 2/7 |
| Hyporeflexia of lower limbs | 28.6% | 2/7 |
| Reduced tendon reflexes | 28.6% | 2/7 |
| Appendicular hypotonia | 14.3% | 1/7 |
| Dysphagia | 14.3% | 1/7 |
| EEG with focal spike waves | 14.3% | 1/7 |
| Incoordination | 14.3% | 1/7 |
| Limb dysmetria | 14.3% | 1/7 |
| Multifocal | 14.3% | 1/7 |
| Muscular hypotonia of the trunk | 14.3% | 1/7 |
| Seizures | 14.3% | 1/7 |
| Upper limb hypertonia | 14.3% | 1/7 |
| Behavioral problems | 57.1% | 4/7 |
| Abnormal eating behavior | 28.6% | 2/7 |
| Aggressive behavior | 28.6% | 2/7 |
| Absent speech | 14.3% | 1/7 |
| Autism | 14.3% | 1/7 |
| Brain abnormality | 71.4% | 5/7 |
| Intraventricular hemorrhage | 71.4% | 5/7 |
| Abnormality of the corpus callosum | 28.6% | 2/7 |
| Abnormality of the spinal cord | 28.6% | 2/7 |
| Abnormality of the cerebral white matter | 28.6% | 2/7 |
| Thick corpus callosum | 28.6% | 2/7 |
| Cerebral atrophy | 14.3% | 1/7 |
| Facial abnormalities | ||
| Abnormality of the eye | 14.3% | 1/7 |
| Deeply set eye | 14.3% | 1/7 |
| Abnormality of the nose | 14.3% | 1/7 |
| Broad nasal tip | 14.3% | 1/7 |
| Prominent nasal bridge | 14.3% | 1/7 |
| Abnormality of the mouth | 14.3% | 1/7 |
| Thin upper lip vermilion | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 14.3% | 1/7 |
| Strabismus | 14.3% | 1/7 |
| Pulmonary | ||
| Abnormality of the lungs | 14.3% | 1/7 |
| Recurrent aspiration pneumonia | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 14.3% | 1/7 |
| Rectal prolapse | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 42.9% | 3/7 |
| Kyphosis | 14.3% | 1/7 |
| Pes cavus | 14.3% | 1/7 |
| Talipes | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 14.3% | 1/7 |
| Few cafe-au-lait spots | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 28.6% | 2/7 |
| Abnormality of serine metabolism | 14.3% | 1/7 |
| Abnormality of aspartate family amino acid metabolism | 14.3% | 1/7 |
| Abnormal enzyme/coenzyme activity | 14.3% | 1/7 |
| Abnormality of arginine metabolism | 14.3% | 1/7 |
| Abnormality of vitamin metabolism | 14.3% | 1/7 |
| Decreased plasma carnitine | 14.3% | 1/7 |
| Elevated plasma citrulline | 14.3% | 1/7 |
| Folate deficiency | 14.3% | 1/7 |
| Hyperprolinemia | 14.3% | 1/7 |
| Hypocalcemia | 14.3% | 1/7 |
| Hypoproteinemia | 14.3% | 1/7 |