BCL11A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 58.1% | 36/62 |
| Female | 41.9% | 26/62 |
| Indifferent | 0% | 0/62 |
| Unknown | 0% | 0/62 |
| General | ||
| Birth Length abnormalities | 0% | 0/62 |
| Birth Weight abnormalities | 1.6% | 1/62 |
| < P3 : Small for gestational age | 1.6% | 1/62 |
| Birth Head circumference abnormalities | 1.6% | 1/62 |
| < P3 : Primary microcephaly | 1.6% | 1/62 |
| Current Height abnormalities | 4.8% | 3/62 |
| < P3 : Short stature | 4.8% | 3/62 |
| Current Weight abnormalities | 4.8% | 3/62 |
| < P3 : Decreased body weight | 4.8% | 3/62 |
| Current Head circumference abnormalities | 32.3% | 20/62 |
| < P3 : Microcephaly | 32.3% | 20/62 |
| Neurology | ||
| Neurological abnormalities | 96.0% | 48/50 |
| Hypotonia | 62.0% | 31/50 |
| Gait ataxia | 24.0% | 12/50 |
| EEG abnormality | 22.0% | 11/50 |
| Dysarthria | 18.0% | 9/50 |
| Abnormality of the autonomic nervous system | 10.0% | 5/50 |
| Bilateral tonic-clonic seizure | 8.0% | 4/50 |
| Seizure | 8.0% | 4/50 |
| Ataxia | 6.0% | 3/50 |
| Focal-onset seizure | 6.0% | 3/50 |
| Focal myoclonic seizure | 4.0% | 2/50 |
| Generalized non-motor (absence) seizure | 4.0% | 2/50 |
| Generalized myoclonic seizure | 4.0% | 2/50 |
| Speech apraxia | 4.0% | 2/50 |
| Atonic seizure | 2.0% | 1/50 |
| Delayed speech and language development | 2.0% | 1/50 |
| Facial hypotonia | 2.0% | 1/50 |
| Floppy infant | 2.0% | 1/50 |
| Generalized tonic seizure | 2.0% | 1/50 |
| Generalized convulsive status epilepticus | 2.0% | 1/50 |
| Generalized-onset seizure | 2.0% | 1/50 |
| Myoclonic spasms | 2.0% | 1/50 |
| obsolete Toe walking | 2.0% | 1/50 |
| Behavioral problems | 77.6% | 45/58 |
| Atypical behavior | 56.9% | 33/58 |
| Autism | 34.5% | 20/58 |
| Repetitive compulsive behavior | 27.6% | 16/58 |
| Sleep disturbance | 27.6% | 16/58 |
| Aggressive behavior | 25.9% | 15/58 |
| Attention deficit hyperactivity disorder | 20.7% | 12/58 |
| Absent speech | 17.2% | 10/58 |
| Anxiety | 10.3% | 6/58 |
| Depression | 1.7% | 1/58 |
| Dysgraphia | 1.7% | 1/58 |
| Dyslexia | 1.7% | 1/58 |
| Brain abnormality | 62.5% | 30/48 |
| Abnormal posterior cranial fossa morphology | 31.3% | 15/48 |
| Abnormal brainstem morphology | 29.2% | 14/48 |
| Abnormal corpus callosum morphology | 18.8% | 9/48 |
| Abnormal brain morphology | 10.4% | 5/48 |
| Abnormal cerebellar vermis morphology | 2.1% | 1/48 |
| Abnormal cerebral cortex morphology | 2.1% | 1/48 |
| Abnormal hippocampus morphology | 2.1% | 1/48 |
| Cortical dysplasia | 2.1% | 1/48 |
| Gliosis | 2.1% | 1/48 |
| Hippocampal malrotation | 2.1% | 1/48 |
| Ventriculomegaly | 2.1% | 1/48 |
| Facial abnormalities | ||
| Abnormality of the ear | 65.4% | 34/52 |
| Abnormality of the outer ear | 53.8% | 28/52 |
| Attached earlobe | 5.8% | 3/52 |
| Overfolded helix | 3.8% | 2/52 |
| Prominent antihelix | 3.8% | 2/52 |
| Abnormal earlobe morphology | 1.9% | 1/52 |
| Auricular tag | 1.9% | 1/52 |
| Cupped ear | 1.9% | 1/52 |
| Low-set ears | 1.9% | 1/52 |
| Microtia | 1.9% | 1/52 |
| Posteriorly rotated ears | 1.9% | 1/52 |
| Protruding ear | 1.9% | 1/52 |
| Underfolded superior helices | 1.9% | 1/52 |
| Abnormality of the eye | 57.9% | 22/38 |
| Epicanthus | 50.0% | 19/38 |
| Downslanted palpebral fissures | 7.9% | 3/38 |
| Abnormality of eye movement | 2.6% | 1/38 |
| Bilateral ptosis | 2.6% | 1/38 |
| Blue sclerae | 2.6% | 1/38 |
| Ptosis | 2.6% | 1/38 |
| Telecanthus | 2.6% | 1/38 |
| Abnormality of the nose | 60.4% | 29/48 |
| Wide nose | 54.2% | 26/48 |
| Broad nasal tip | 12.5% | 6/48 |
| Abnormal nostril morphology | 4.2% | 2/48 |
| Anteverted nares | 2.1% | 1/48 |
| Depressed nasal bridge | 2.1% | 1/48 |
| Prominent nasal bridge | 2.1% | 1/48 |
| Wide nasal bridge | 2.1% | 1/48 |
| Abnormality of the mouth | 82.1% | 46/56 |
| Abnormal lower lip morphology | 50.0% | 28/56 |
| Thin upper lip vermilion | 37.5% | 21/56 |
| Abnormal palate morphology | 8.9% | 5/56 |
| Retrognathia | 7.1% | 4/56 |
| High palate | 5.4% | 3/56 |
| Cleft palate | 1.8% | 1/56 |
| Everted lower lip vermilion | 1.8% | 1/56 |
| Micrognathia | 1.8% | 1/56 |
| Narrow mouth | 1.8% | 1/56 |
| Open mouth | 1.8% | 1/56 |
| Wide mouth | 1.8% | 1/56 |
| Visual and hearing impairments | ||
| Abnormal hearing | 4.5% | 1/22 |
| Hearing impairment | 4.5% | 1/22 |
| Abnormal vision | 67.4% | 29/43 |
| Strabismus | 67.4% | 29/43 |
| Amblyopia | 2.3% | 1/43 |
| Hypermetropia | 2.3% | 1/43 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 39.5% | 15/38 |
| Constipation | 34.2% | 13/38 |
| Chronic constipation | 2.6% | 1/38 |
| Gastroesophageal reflux | 2.6% | 1/38 |
| Urogenital | ||
| Abnormality of the urogenital system | 28.6% | 8/28 |
| Cryptorchidism | 10.7% | 3/28 |
| Hydrocele testis | 3.6% | 1/28 |
| Hydronephrosis | 3.6% | 1/28 |
| Micropenis | 3.6% | 1/28 |
| Phimosis | 3.6% | 1/28 |
| Urethral stenosis | 3.6% | 1/28 |
| Vesicoureteral reflux | 3.6% | 1/28 |
| Skeleton | ||
| Skeletal abnormalities | 56.3% | 27/48 |
| Joint hypermobility | 39.6% | 19/48 |
| Scoliosis | 16.7% | 8/48 |
| Abnormal finger morphology | 2.1% | 1/48 |
| Clinodactyly of the 2nd toe | 2.1% | 1/48 |
| Congenital hip dislocation | 2.1% | 1/48 |
| Coxa valga | 2.1% | 1/48 |
| Kyphosis | 2.1% | 1/48 |
| Marked delay in bone age | 2.1% | 1/48 |
| obsolete Abnormality of the metacarpal bones | 2.1% | 1/48 |
| Pectus excavatum | 2.1% | 1/48 |
| Pes valgus | 2.1% | 1/48 |
| Postaxial foot polydactyly | 2.1% | 1/48 |
| Postaxial hand polydactyly | 2.1% | 1/48 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 16/32 |
| Hypertrichosis | 34.4% | 11/32 |
| Fine hair | 6.3% | 2/32 |
| Atopic dermatitis | 3.1% | 1/32 |
| Frontal upsweep of hair | 3.1% | 1/32 |
| High posterior hairline | 3.1% | 1/32 |
| High anterior hairline | 3.1% | 1/32 |
| Medial flaring of the eyebrow | 3.1% | 1/32 |
| obsolete Sparse and thin eyebrow | 3.1% | 1/32 |
| Prominent digit pad | 3.1% | 1/32 |
| Supernumerary nipple | 3.1% | 1/32 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.0% | 1/5 |
| Hypothyroidism | 20.0% | 1/5 |
| Abnormality of the immune system | 8.3% | 2/24 |
| Bronchiectasis | 4.2% | 1/24 |
| Panhypogammaglobulinemia | 4.2% | 1/24 |
| Recurrent otitis media | 4.2% | 1/24 |
| Recurrent pneumonia | 4.2% | 1/24 |
| Neoplasia | ||
| Neoplasia | 1.6% | 1/62 |
| Osteochondroma | 1.6% | 1/62 |