CNKSR2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 2/2 |
| Female | 0% | 0/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| > P98 : Large for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 50.0% | 1/2 |
| > P98 : Macrocephaly | 50.0% | 1/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Absence seizures | 50.0% | 1/2 |
| Delayed speech and language development | 50.0% | 1/2 |
| Delayed gross motor development | 50.0% | 1/2 |
| Dystonia | 50.0% | 1/2 |
| Generalized hypotonia | 50.0% | 1/2 |
| Generalized seizures | 50.0% | 1/2 |
| Myoclonic spasms | 50.0% | 1/2 |
| Poor gross motor coordination | 50.0% | 1/2 |
| Sleep apnea | 50.0% | 1/2 |
| Behavioral problems | 100.0% | 2/2 |
| Autism | 50.0% | 1/2 |
| Hyperactivity | 50.0% | 1/2 |
| Brain abnormality | 50.0% | 1/2 |
| Abnormality of the periventricular white matter | 50.0% | 1/2 |
| Abnormality of the corpus callosum | 50.0% | 1/2 |
| Abnormality of the cerebral white matter | 50.0% | 1/2 |
| Ventriculomegaly | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 1/2 |
| Chronic diarrhea | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 1/2 |
| Abnormally lax or hyperextensible skin | 50.0% | 1/2 |