BCL11A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.6% | 34/59 |
| Female | 42.4% | 25/59 |
| Indifferent | 0% | 0/59 |
| Unknown | 0% | 0/59 |
| General | ||
| Birth Length abnormalities | 0% | 0/59 |
| Birth Weight abnormalities | 1.7% | 1/59 |
| < P3 : Small for gestational age | 1.7% | 1/59 |
| Birth Head circumference abnormalities | 1.7% | 1/59 |
| < P3 : Congenital microcephaly | 1.7% | 1/59 |
| Current Height abnormalities | 5.1% | 3/59 |
| < P3 : Short stature | 5.1% | 3/59 |
| Current Weight abnormalities | 5.1% | 3/59 |
| < P3 : Decreased body weight | 5.1% | 3/59 |
| Current Head circumference abnormalities | 33.9% | 20/59 |
| < P3 : Microcephaly | 33.9% | 20/59 |
| Neurology | ||
| Neurological abnormalities | 95.7% | 45/47 |
| Muscular hypotonia | 63.8% | 30/47 |
| Gait ataxia | 25.5% | 12/47 |
| EEG abnormality | 21.3% | 10/47 |
| Dysarthria | 19.1% | 9/47 |
| Abnormality of the autonomic nervous system | 10.6% | 5/47 |
| Generalized tonic-clonic seizures | 8.5% | 4/47 |
| Ataxia | 6.4% | 3/47 |
| Focal seizures | 6.4% | 3/47 |
| Seizures | 6.4% | 3/47 |
| Absence seizures | 4.3% | 2/47 |
| Focal myoclonic seizures | 4.3% | 2/47 |
| Generalized myoclonic seizures | 4.3% | 2/47 |
| Speech apraxia | 4.3% | 2/47 |
| Atonic seizures | 2.1% | 1/47 |
| Delayed speech and language development | 2.1% | 1/47 |
| Facial hypotonia | 2.1% | 1/47 |
| Generalized seizures | 2.1% | 1/47 |
| Generalized tonic seizures | 2.1% | 1/47 |
| Infantile muscular hypotonia | 2.1% | 1/47 |
| Myoclonic spasms | 2.1% | 1/47 |
| Toe walking | 2.1% | 1/47 |
| Behavioral problems | 78.2% | 43/55 |
| Behavioral abnormality | 60.0% | 33/55 |
| Autism | 32.7% | 18/55 |
| Repetitive compulsive behavior | 29.1% | 16/55 |
| Sleep disturbance | 29.1% | 16/55 |
| Aggressive behavior | 27.3% | 15/55 |
| Attention deficit hyperactivity disorder | 21.8% | 12/55 |
| Absent speech | 18.2% | 10/55 |
| Anxiety | 10.9% | 6/55 |
| Depression | 1.8% | 1/55 |
| Dysgraphia | 1.8% | 1/55 |
| Dyslexia | 1.8% | 1/55 |
| Brain abnormality | 60.9% | 28/46 |
| Abnormality of the posterior cranial fossa | 32.6% | 15/46 |
| Abnormality of brainstem morphology | 30.4% | 14/46 |
| Abnormality of the corpus callosum | 19.6% | 9/46 |
| Abnormality of brain morphology | 10.9% | 5/46 |
| Abnormality of the cerebellar vermis | 2.2% | 1/46 |
| Abnormality of the cerebral cortex | 2.2% | 1/46 |
| Cortical dysplasia | 2.2% | 1/46 |
| Gliosis | 2.2% | 1/46 |
| Ventriculomegaly | 2.2% | 1/46 |
| Facial abnormalities | ||
| Abnormality of the ear | 65.3% | 32/49 |
| Abnormality of the outer ear | 57.1% | 28/49 |
| Attached earlobe | 6.1% | 3/49 |
| Overfolded helix | 4.1% | 2/49 |
| Prominent antihelix | 4.1% | 2/49 |
| Auricular tag | 2.0% | 1/49 |
| Cupped ear | 2.0% | 1/49 |
| Low-set ears | 2.0% | 1/49 |
| Microtia | 2.0% | 1/49 |
| Posteriorly rotated ears | 2.0% | 1/49 |
| Protruding ear | 2.0% | 1/49 |
| Abnormality of the eye | 57.1% | 20/35 |
| Epicanthus | 51.4% | 18/35 |
| Downslanted palpebral fissures | 8.6% | 3/35 |
| Abnormality of eye movement | 2.9% | 1/35 |
| Blue sclerae | 2.9% | 1/35 |
| Ptosis | 2.9% | 1/35 |
| Telecanthus | 2.9% | 1/35 |
| Abnormality of the nose | 60.0% | 27/45 |
| Wide nose | 57.8% | 26/45 |
| Broad nasal tip | 11.1% | 5/45 |
| Abnormality of the nares | 4.4% | 2/45 |
| Anteverted nares | 2.2% | 1/45 |
| Depressed nasal bridge | 2.2% | 1/45 |
| Prominent nasal bridge | 2.2% | 1/45 |
| Abnormality of the mouth | 83.0% | 44/53 |
| Abnormality of lower lip | 52.8% | 28/53 |
| Thin upper lip vermilion | 39.6% | 21/53 |
| Abnormality of the palate | 9.4% | 5/53 |
| Retrognathia | 7.5% | 4/53 |
| High palate | 5.7% | 3/53 |
| Cleft palate | 1.9% | 1/53 |
| Micrognathia | 1.9% | 1/53 |
| Narrow mouth | 1.9% | 1/53 |
| Wide mouth | 1.9% | 1/53 |
| Visual and hearing impairments | ||
| Abnormal hearing | 5.3% | 1/19 |
| Hearing impairment | 5.3% | 1/19 |
| Abnormal vision | 72.5% | 29/40 |
| Strabismus | 72.5% | 29/40 |
| Amblyopia | 2.5% | 1/40 |
| Hypermetropia | 2.5% | 1/40 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 40.0% | 14/35 |
| Constipation | 37.1% | 13/35 |
| Gastroesophageal reflux | 2.9% | 1/35 |
| Urogenital | ||
| Abnormality of the urogenital system | 32.0% | 8/25 |
| Cryptorchidism | 12.0% | 3/25 |
| Hydronephrosis | 4.0% | 1/25 |
| Hydrocele testis | 4.0% | 1/25 |
| Micropenis | 4.0% | 1/25 |
| Phimosis | 4.0% | 1/25 |
| Urethral stenosis | 4.0% | 1/25 |
| Vesicoureteral reflux | 4.0% | 1/25 |
| Skeleton | ||
| Skeletal abnormalities | 60.0% | 27/45 |
| Joint hypermobility | 42.2% | 19/45 |
| Scoliosis | 17.8% | 8/45 |
| Abnormality of finger | 2.2% | 1/45 |
| Abnormality of the metacarpal bones | 2.2% | 1/45 |
| Clinodactyly of the 2nd toe | 2.2% | 1/45 |
| Congenital hip dislocation | 2.2% | 1/45 |
| Coxa valga | 2.2% | 1/45 |
| Kyphosis | 2.2% | 1/45 |
| Marked delay in bone age | 2.2% | 1/45 |
| Pectus excavatum | 2.2% | 1/45 |
| Postaxial foot polydactyly | 2.2% | 1/45 |
| Postaxial hand polydactyly | 2.2% | 1/45 |
| Valgus foot deformity | 2.2% | 1/45 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 55.2% | 16/29 |
| Hypertrichosis | 37.9% | 11/29 |
| Fine hair | 6.9% | 2/29 |
| Atopic dermatitis | 3.4% | 1/29 |
| Frontal upsweep of hair | 3.4% | 1/29 |
| High anterior hairline | 3.4% | 1/29 |
| High posterior hairline | 3.4% | 1/29 |
| Medial flaring of the eyebrow | 3.4% | 1/29 |
| Prominent digit pad | 3.4% | 1/29 |
| Sparse eyebrow | 3.4% | 1/29 |
| Supernumerary nipple | 3.4% | 1/29 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Hypothyroidism | 50.0% | 1/2 |
| Abnormality of the immune system | 9.5% | 2/21 |
| Bronchiectasis | 4.8% | 1/21 |
| Panhypogammaglobulinemia | 4.8% | 1/21 |
| Recurrent otitis media | 4.8% | 1/21 |
| Recurrent pneumonia | 4.8% | 1/21 |
| Neoplasia | ||
| Neoplasia | 1.7% | 1/59 |
| Osteochondroma | 1.7% | 1/59 |