IRF2BPL
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 4/6 |
| Female | 33.3% | 2/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 0% | 0/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 0% | 0/6 |
| Current Weight abnormalities | 0% | 0/6 |
| Current Head circumference abnormalities | 0% | 0/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Dysphagia | 50.0% | 3/6 |
| EEG abnormality | 50.0% | 3/6 |
| Gait disturbance | 50.0% | 3/6 |
| Hyperactive deep tendon reflexes | 50.0% | 3/6 |
| Abnormality of saccadic eye movements | 33.3% | 2/6 |
| Dysarthria | 33.3% | 2/6 |
| Dystonia | 33.3% | 2/6 |
| Generalized dystonia | 33.3% | 2/6 |
| Poor motor coordination | 33.3% | 2/6 |
| Abnormal posturing | 16.7% | 1/6 |
| Anarthria | 16.7% | 1/6 |
| Aspiration | 16.7% | 1/6 |
| Ataxia | 16.7% | 1/6 |
| Babinski sign | 16.7% | 1/6 |
| Blepharospasm | 16.7% | 1/6 |
| Choreoathetosis | 16.7% | 1/6 |
| Chorea | 16.7% | 1/6 |
| Developmental regression | 16.7% | 1/6 |
| Drooling | 16.7% | 1/6 |
| Focal tonic seizures | 16.7% | 1/6 |
| Focal seizures | 16.7% | 1/6 |
| Gait imbalance | 16.7% | 1/6 |
| Gait ataxia | 16.7% | 1/6 |
| Hypokinesia | 16.7% | 1/6 |
| Infantile spasms | 16.7% | 1/6 |
| Limb ataxia | 16.7% | 1/6 |
| Limb hypertonia | 16.7% | 1/6 |
| Memory impairment | 16.7% | 1/6 |
| Muscular hypotonia | 16.7% | 1/6 |
| Myoclonus | 16.7% | 1/6 |
| Peripheral demyelination | 16.7% | 1/6 |
| Photomyoclonic seizures | 16.7% | 1/6 |
| Polyneuropathy | 16.7% | 1/6 |
| Poor head control | 16.7% | 1/6 |
| Progressive spasticity | 16.7% | 1/6 |
| Rigidity | 16.7% | 1/6 |
| Seizures | 16.7% | 1/6 |
| Spasticity | 16.7% | 1/6 |
| Toe walking | 16.7% | 1/6 |
| Behavioral problems | 80.0% | 4/5 |
| Absent speech | 20.0% | 1/5 |
| Anarthria | 20.0% | 1/5 |
| Anxiety | 20.0% | 1/5 |
| Developmental regression | 20.0% | 1/5 |
| Loss of voice | 20.0% | 1/5 |
| Speech articulation difficulties | 20.0% | 1/5 |
| Brain abnormality | 66.7% | 4/6 |
| Cerebral atrophy | 33.3% | 2/6 |
| Abnormality of the cerebral white matter | 16.7% | 1/6 |
| Abnormality of the corpus callosum | 16.7% | 1/6 |
| Cerebellar atrophy | 16.7% | 1/6 |
| Extra-axial cerebrospinal fluid accumulation | 16.7% | 1/6 |
| Iron accumulation in brain | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 16.7% | 1/6 |
| Anterior creases of earlobe | 16.7% | 1/6 |
| Macrotia | 16.7% | 1/6 |
| Abnormality of the eye | 33.3% | 2/6 |
| Buphthalmos | 16.7% | 1/6 |
| Chorioretinal hyperpigmentation | 16.7% | 1/6 |
| Hypertelorism | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Abnormality of the mouth | 33.3% | 2/6 |
| Oromandibular dystonia | 33.3% | 2/6 |
| Gingival overgrowth | 16.7% | 1/6 |
| Macroglossia | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal vision | 83.3% | 5/6 |
| Slow saccadic eye movements | 33.3% | 2/6 |
| Abnormality of refraction | 16.7% | 1/6 |
| Astigmatism | 16.7% | 1/6 |
| Exotropia | 16.7% | 1/6 |
| Keratoconus | 16.7% | 1/6 |
| Myopia | 16.7% | 1/6 |
| Nystagmus | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 16.7% | 1/6 |
| Hypertrophic cardiomyopathy | 16.7% | 1/6 |
| Left ventricular septal hypertrophy | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 16.7% | 1/6 |
| Abdominal distention | 16.7% | 1/6 |
| Allergy | 16.7% | 1/6 |
| Gastrointestinal dysmotility | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 16.7% | 1/6 |
| Large hands | 16.7% | 1/6 |
| Long foot | 16.7% | 1/6 |
| Valgus foot deformity | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.7% | 1/6 |
| Eczema | 16.7% | 1/6 |