BCL11A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.9% | 33/58 |
| Female | 43.1% | 25/58 |
| Indifferent | 0% | 0/58 |
| Unknown | 0% | 0/58 |
| General | ||
| Birth Length abnormalities | 0% | 0/58 |
| Birth Weight abnormalities | 1.7% | 1/58 |
| < P3 : Small for gestational age | 1.7% | 1/58 |
| Birth Head circumference abnormalities | 1.7% | 1/58 |
| < P3 : Congenital microcephaly | 1.7% | 1/58 |
| Current Height abnormalities | 5.2% | 3/58 |
| < P3 : Short stature | 5.2% | 3/58 |
| Current Weight abnormalities | 5.2% | 3/58 |
| < P3 : Decreased body weight | 5.2% | 3/58 |
| Current Head circumference abnormalities | 34.5% | 20/58 |
| < P3 : Microcephaly | 34.5% | 20/58 |
| Neurology | ||
| Neurological abnormalities | 95.7% | 44/46 |
| Muscular hypotonia | 65.2% | 30/46 |
| Gait ataxia | 26.1% | 12/46 |
| EEG abnormality | 21.7% | 10/46 |
| Dysarthria | 19.6% | 9/46 |
| Abnormality of the autonomic nervous system | 10.9% | 5/46 |
| Generalized tonic-clonic seizures | 8.7% | 4/46 |
| Ataxia | 6.5% | 3/46 |
| Focal seizures | 6.5% | 3/46 |
| Seizures | 6.5% | 3/46 |
| Absence seizures | 4.3% | 2/46 |
| Focal myoclonic seizures | 4.3% | 2/46 |
| Generalized myoclonic seizures | 4.3% | 2/46 |
| Speech apraxia | 4.3% | 2/46 |
| Atonic seizures | 2.2% | 1/46 |
| Facial hypotonia | 2.2% | 1/46 |
| Generalized tonic seizures | 2.2% | 1/46 |
| Generalized seizures | 2.2% | 1/46 |
| Myoclonic spasms | 2.2% | 1/46 |
| Toe walking | 2.2% | 1/46 |
| Behavioral problems | 79.6% | 43/54 |
| Behavioral abnormality | 61.1% | 33/54 |
| Autism | 33.3% | 18/54 |
| Repetitive compulsive behavior | 29.6% | 16/54 |
| Sleep disturbance | 29.6% | 16/54 |
| Aggressive behavior | 27.8% | 15/54 |
| Attention deficit hyperactivity disorder | 22.2% | 12/54 |
| Absent speech | 18.5% | 10/54 |
| Anxiety | 11.1% | 6/54 |
| Depression | 1.9% | 1/54 |
| Dysgraphia | 1.9% | 1/54 |
| Dyslexia | 1.9% | 1/54 |
| Brain abnormality | 60.0% | 27/45 |
| Abnormality of the posterior cranial fossa | 33.3% | 15/45 |
| Abnormality of brainstem morphology | 31.1% | 14/45 |
| Abnormality of the corpus callosum | 20.0% | 9/45 |
| Abnormality of brain morphology | 11.1% | 5/45 |
| Abnormality of the cerebellar vermis | 2.2% | 1/45 |
| Abnormality of the cerebral cortex | 2.2% | 1/45 |
| Cortical dysplasia | 2.2% | 1/45 |
| Ventriculomegaly | 2.2% | 1/45 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 32/48 |
| Abnormality of the outer ear | 58.3% | 28/48 |
| Attached earlobe | 6.3% | 3/48 |
| Overfolded helix | 4.2% | 2/48 |
| Prominent antihelix | 4.2% | 2/48 |
| Auricular tag | 2.1% | 1/48 |
| Cupped ear | 2.1% | 1/48 |
| Low-set ears | 2.1% | 1/48 |
| Microtia | 2.1% | 1/48 |
| Posteriorly rotated ears | 2.1% | 1/48 |
| Protruding ear | 2.1% | 1/48 |
| Abnormality of the eye | 58.8% | 20/34 |
| Epicanthus | 52.9% | 18/34 |
| Downslanted palpebral fissures | 8.8% | 3/34 |
| Abnormality of eye movement | 2.9% | 1/34 |
| Blue sclerae | 2.9% | 1/34 |
| Ptosis | 2.9% | 1/34 |
| Telecanthus | 2.9% | 1/34 |
| Abnormality of the nose | 61.4% | 27/44 |
| Wide nose | 59.1% | 26/44 |
| Broad nasal tip | 11.4% | 5/44 |
| Abnormality of the nares | 4.5% | 2/44 |
| Anteverted nares | 2.3% | 1/44 |
| Depressed nasal bridge | 2.3% | 1/44 |
| Prominent nasal bridge | 2.3% | 1/44 |
| Abnormality of the mouth | 84.6% | 44/52 |
| Abnormality of lower lip | 53.8% | 28/52 |
| Thin upper lip vermilion | 40.4% | 21/52 |
| Abnormality of the palate | 9.6% | 5/52 |
| Retrognathia | 7.7% | 4/52 |
| High palate | 5.8% | 3/52 |
| Cleft palate | 1.9% | 1/52 |
| Micrognathia | 1.9% | 1/52 |
| Narrow mouth | 1.9% | 1/52 |
| Wide mouth | 1.9% | 1/52 |
| Visual and hearing impairments | ||
| Abnormal hearing | 5.6% | 1/18 |
| Hearing impairment | 5.6% | 1/18 |
| Abnormal vision | 74.4% | 29/39 |
| Strabismus | 74.4% | 29/39 |
| Amblyopia | 2.6% | 1/39 |
| Hypermetropia | 2.6% | 1/39 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 41.2% | 14/34 |
| Constipation | 38.2% | 13/34 |
| Gastroesophageal reflux | 2.9% | 1/34 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 8/24 |
| Cryptorchidism | 12.5% | 3/24 |
| Hydrocele testis | 4.2% | 1/24 |
| Hydronephrosis | 4.2% | 1/24 |
| Micropenis | 4.2% | 1/24 |
| Phimosis | 4.2% | 1/24 |
| Urethral stenosis | 4.2% | 1/24 |
| Vesicoureteral reflux | 4.2% | 1/24 |
| Skeleton | ||
| Skeletal abnormalities | 61.4% | 27/44 |
| Joint hypermobility | 43.2% | 19/44 |
| Scoliosis | 18.2% | 8/44 |
| Abnormality of the metacarpal bones | 2.3% | 1/44 |
| Abnormality of finger | 2.3% | 1/44 |
| Clinodactyly of the 2nd toe | 2.3% | 1/44 |
| Congenital hip dislocation | 2.3% | 1/44 |
| Coxa valga | 2.3% | 1/44 |
| Kyphosis | 2.3% | 1/44 |
| Marked delay in bone age | 2.3% | 1/44 |
| Pectus excavatum | 2.3% | 1/44 |
| Postaxial hand polydactyly | 2.3% | 1/44 |
| Postaxial foot polydactyly | 2.3% | 1/44 |
| Valgus foot deformity | 2.3% | 1/44 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 57.1% | 16/28 |
| Hypertrichosis | 39.3% | 11/28 |
| Fine hair | 7.1% | 2/28 |
| Atopic dermatitis | 3.6% | 1/28 |
| Frontal upsweep of hair | 3.6% | 1/28 |
| High anterior hairline | 3.6% | 1/28 |
| High posterior hairline | 3.6% | 1/28 |
| Medial flaring of the eyebrow | 3.6% | 1/28 |
| Prominent digit pad | 3.6% | 1/28 |
| Sparse eyebrow | 3.6% | 1/28 |
| Supernumerary nipple | 3.6% | 1/28 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |
| Abnormality of the immune system | 10.0% | 2/20 |
| Bronchiectasis | 5.0% | 1/20 |
| Panhypogammaglobulinemia | 5.0% | 1/20 |
| Recurrent pneumonia | 5.0% | 1/20 |
| Recurrent otitis media | 5.0% | 1/20 |
| Neoplasia | ||
| Neoplasia | 1.7% | 1/58 |
| Osteochondroma | 1.7% | 1/58 |