BCL11A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 24/42 |
| Female | 42.9% | 18/42 |
| Indifferent | 0% | 0/42 |
| Unknown | 0% | 0/42 |
| General | ||
| Birth Length abnormalities | 0% | 0/42 |
| Birth Weight abnormalities | 0% | 0/42 |
| Birth Head circumference abnormalities | 0% | 0/42 |
| Current Height abnormalities | 2.4% | 1/42 |
| < P3 : Short stature | 2.4% | 1/42 |
| Current Weight abnormalities | 0% | 0/42 |
| Current Head circumference abnormalities | 16.7% | 7/42 |
| < P3 : Microcephaly | 16.7% | 7/42 |
| Neurology | ||
| Neurological abnormalities | 95.5% | 21/22 |
| Muscular hypotonia | 81.8% | 18/22 |
| EEG abnormality | 27.3% | 6/22 |
| Dysarthria | 18.2% | 4/22 |
| Gait ataxia | 13.6% | 3/22 |
| Abnormality of the autonomic nervous system | 9.1% | 2/22 |
| Ataxia | 9.1% | 2/22 |
| Generalized myoclonic seizures | 9.1% | 2/22 |
| Generalized tonic-clonic seizures | 9.1% | 2/22 |
| Focal seizures | 4.5% | 1/22 |
| Toe walking | 4.5% | 1/22 |
| Behavioral problems | 84.6% | 22/26 |
| Behavioral abnormality | 76.9% | 20/26 |
| Aggressive behavior | 46.2% | 12/26 |
| Autism | 34.6% | 9/26 |
| Repetitive compulsive behavior | 34.6% | 9/26 |
| Attention deficit hyperactivity disorder | 30.8% | 8/26 |
| Sleep disturbance | 30.8% | 8/26 |
| Absent speech | 26.9% | 7/26 |
| Anxiety | 11.5% | 3/26 |
| Depression | 3.8% | 1/26 |
| Dysgraphia | 3.8% | 1/26 |
| Dyslexia | 3.8% | 1/26 |
| Brain abnormality | 40.9% | 9/22 |
| Abnormality of brainstem morphology | 36.4% | 8/22 |
| Abnormality of the posterior cranial fossa | 36.4% | 8/22 |
| Abnormality of the corpus callosum | 18.2% | 4/22 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 16/24 |
| Abnormality of the outer ear | 62.5% | 15/24 |
| Auricular tag | 4.2% | 1/24 |
| Abnormality of the eye | 90.0% | 9/10 |
| Epicanthus | 90.0% | 9/10 |
| Abnormality of eye movement | 10.0% | 1/10 |
| Abnormality of the nose | 73.7% | 14/19 |
| Wide nose | 73.7% | 14/19 |
| Abnormality of the mouth | 84.0% | 21/25 |
| Abnormality of lower lip | 68.0% | 17/25 |
| Thin upper lip vermilion | 32.0% | 8/25 |
| Abnormality of the palate | 8.0% | 2/25 |
| Cleft palate | 4.0% | 1/25 |
| Visual and hearing impairments | ||
| Abnormal vision | 82.4% | 14/17 |
| Strabismus | 82.4% | 14/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 38.1% | 8/21 |
| Constipation | 38.1% | 8/21 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 4/4 |
| Hydrocele testis | 25.0% | 1/4 |
| Hydronephrosis | 25.0% | 1/4 |
| Micropenis | 25.0% | 1/4 |
| Phimosis | 25.0% | 1/4 |
| Vesicoureteral reflux | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 52.4% | 11/21 |
| Joint hypermobility | 28.6% | 6/21 |
| Scoliosis | 23.8% | 5/21 |
| Abnormality of finger | 4.8% | 1/21 |
| Kyphosis | 4.8% | 1/21 |
| Postaxial hand polydactyly | 4.8% | 1/21 |
| Postaxial foot polydactyly | 4.8% | 1/21 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 5/5 |
| Hypertrichosis | 80.0% | 4/5 |
| Supernumerary nipple | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |