BCL11A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.6% | 5/9 |
| Female | 44.4% | 4/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 0% | 0/9 |
| Birth Head circumference abnormalities | 0% | 0/9 |
| Current Height abnormalities | 0% | 0/9 |
| Current Weight abnormalities | 0% | 0/9 |
| Current Head circumference abnormalities | 44.4% | 4/9 |
| < P3 : Microcephaly | 44.4% | 4/9 |
| Neurology | ||
| Neurological abnormalities | 33.3% | 2/6 |
| Broad-based gait | 33.3% | 2/6 |
| Truncal ataxia | 16.7% | 1/6 |
| Behavioral problems | 83.3% | 5/6 |
| Repetitive compulsive behavior | 66.7% | 4/6 |
| Autism | 33.3% | 2/6 |
| Recurrent hand flapping | 33.3% | 2/6 |
| Sleep disturbance | 33.3% | 2/6 |
| Emotional lability | 16.7% | 1/6 |
| Self-injurious behavior | 16.7% | 1/6 |
| Self-biting | 16.7% | 1/6 |
| Sensory impairment | 16.7% | 1/6 |
| Brain abnormality | 60.0% | 3/5 |
| Abnormality of the cerebral white matter | 20.0% | 1/5 |
| Cerebellar vermis hypoplasia | 20.0% | 1/5 |
| Ventriculomegaly | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 3/6 |
| Attached earlobe | 33.3% | 2/6 |
| Low-set ears | 33.3% | 2/6 |
| Overfolded helix | 33.3% | 2/6 |
| Abnormality of the crus of the helix | 16.7% | 1/6 |
| Abnormality of the helix | 16.7% | 1/6 |
| Microtia | 16.7% | 1/6 |
| Abnormality of the eye | 83.3% | 5/6 |
| Strabismus | 66.7% | 4/6 |
| Blue sclerae | 33.3% | 2/6 |
| Downslanted palpebral fissures | 33.3% | 2/6 |
| Epicanthus | 16.7% | 1/6 |
| Abnormality of the nose | 66.7% | 4/6 |
| Abnormality of the nares | 33.3% | 2/6 |
| Anteverted nares | 33.3% | 2/6 |
| Broad nasal tip | 16.7% | 1/6 |
| Thick nasal alae | 16.7% | 1/6 |
| Abnormality of the mouth | 100.0% | 6/6 |
| Thin upper lip vermilion | 83.3% | 5/6 |
| Everted lower lip vermilion | 66.7% | 4/6 |
| Abnormality of mouth size | 33.3% | 2/6 |
| Dental crowding | 16.7% | 1/6 |
| High palate | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 2/6 |
| Bilateral coxa valga | 16.7% | 1/6 |
| Sagittal craniosynostosis | 16.7% | 1/6 |
| Valgus foot deformity | 16.7% | 1/6 |