POLR2A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.2% | 13/24 |
| Female | 45.8% | 11/24 |
| Indifferent | 0% | 0/24 |
| Unknown | 0% | 0/24 |
| General | ||
| Birth Length abnormalities | 0% | 0/24 |
| Birth Weight abnormalities | 0% | 0/24 |
| Birth Head circumference abnormalities | 0% | 0/24 |
| Current Height abnormalities | 0% | 0/24 |
| Current Weight abnormalities | 0% | 0/24 |
| Current Head circumference abnormalities | 41.7% | 10/24 |
| > P98 : Macrocephaly | 8.3% | 2/24 |
| < P3 : Microcephaly | 33.3% | 8/24 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 24/24 |
| Generalized hypotonia | 58.3% | 14/24 |
| Sleep disturbance | 45.8% | 11/24 |
| Ataxia | 29.2% | 7/24 |
| Hypotonia | 29.2% | 7/24 |
| Seizure | 25.0% | 6/24 |
| Opisthotonus | 12.5% | 3/24 |
| Dystonia | 8.3% | 2/24 |
| Generalized non-motor (absence) seizure | 8.3% | 2/24 |
| Absent speech | 4.2% | 1/24 |
| Atonic seizure | 4.2% | 1/24 |
| Bilateral tonic-clonic seizure with generalized onset | 4.2% | 1/24 |
| Central sleep apnea | 4.2% | 1/24 |
| Drooling | 4.2% | 1/24 |
| Dysphagia | 4.2% | 1/24 |
| EEG with parietal epileptiform discharges | 4.2% | 1/24 |
| Epileptic encephalopathy | 4.2% | 1/24 |
| Febrile seizure (within the age range of 3 months to 6 years) | 4.2% | 1/24 |
| Fragmented sleep | 4.2% | 1/24 |
| Gait ataxia | 4.2% | 1/24 |
| Gait disturbance | 4.2% | 1/24 |
| Insomnia | 4.2% | 1/24 |
| Maintenance insomnia | 4.2% | 1/24 |
| Myoclonic seizure | 4.2% | 1/24 |
| Sleep terror | 4.2% | 1/24 |
| Behavioral problems | 65.2% | 15/23 |
| Autistic behavior | 47.8% | 11/23 |
| Aggressive behavior | 21.7% | 5/23 |
| Recurrent hand flapping | 17.4% | 4/23 |
| Absent speech | 8.7% | 2/23 |
| Head-banging | 8.7% | 2/23 |
| Motor stereotypy | 8.7% | 2/23 |
| Pica | 8.7% | 2/23 |
| Abnormal communication | 4.3% | 1/23 |
| Abnormal head movements | 4.3% | 1/23 |
| Abnormal temper tantrums | 4.3% | 1/23 |
| Abnormality of movement | 4.3% | 1/23 |
| Agitation | 4.3% | 1/23 |
| Anxiety | 4.3% | 1/23 |
| Attention deficit hyperactivity disorder | 4.3% | 1/23 |
| Atypical behavior | 4.3% | 1/23 |
| Depression | 4.3% | 1/23 |
| Hyperorality | 4.3% | 1/23 |
| Self-injurious behavior | 4.3% | 1/23 |
| Skin-picking | 4.3% | 1/23 |
| Brain abnormality | 75.0% | 18/24 |
| Delayed myelination | 25.0% | 6/24 |
| Ventriculomegaly | 25.0% | 6/24 |
| Cerebellar atrophy | 8.3% | 2/24 |
| Enlarged cisterna magna | 8.3% | 2/24 |
| Hypoplasia of the corpus callosum | 8.3% | 2/24 |
| Hypoplasia of the pons | 8.3% | 2/24 |
| Thin corpus callosum | 8.3% | 2/24 |
| Abnormal globus pallidus morphology | 4.2% | 1/24 |
| Aplasia/Hypoplasia of the cerebral white matter | 4.2% | 1/24 |
| Cerebral atrophy | 4.2% | 1/24 |
| Cerebellar vermis atrophy | 4.2% | 1/24 |
| Dilation of Virchow-Robin spaces | 4.2% | 1/24 |
| Dilated fourth ventricle | 4.2% | 1/24 |
| Dilated third ventricle | 4.2% | 1/24 |
| Focal T2 hyperintense basal ganglia lesion | 4.2% | 1/24 |
| Hyperintensity of cerebral white matter on MRI | 4.2% | 1/24 |
| Lateral ventricle dilatation | 4.2% | 1/24 |
| Noncommunicating hydrocephalus | 4.2% | 1/24 |
| Periventricular nodular heterotopia | 4.2% | 1/24 |
| Periventricular cysts | 4.2% | 1/24 |
| Pituitary gland cyst | 4.2% | 1/24 |
| Reduced cerebral white matter volume | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 5/10 |
| Protruding ear | 20.0% | 2/10 |
| Large earlobe | 10.0% | 1/10 |
| Macrotia | 10.0% | 1/10 |
| Microtia | 10.0% | 1/10 |
| Posteriorly rotated ears | 10.0% | 1/10 |
| Abnormality of the eye | 85.7% | 18/21 |
| Strabismus | 61.9% | 13/21 |
| Hypertelorism | 23.8% | 5/21 |
| Deeply set eye | 9.5% | 2/21 |
| Downslanted palpebral fissures | 9.5% | 2/21 |
| Epicanthus | 9.5% | 2/21 |
| Long palpebral fissure | 9.5% | 2/21 |
| Broad eyebrow | 4.8% | 1/21 |
| Esodeviation | 4.8% | 1/21 |
| Exotropia | 4.8% | 1/21 |
| Long eyebrows | 4.8% | 1/21 |
| Proptosis | 4.8% | 1/21 |
| Sparse eyebrow | 4.8% | 1/21 |
| Upslanted palpebral fissure | 4.8% | 1/21 |
| Abnormality of the mouth | 83.3% | 15/18 |
| High palate | 33.3% | 6/18 |
| Tooth malposition | 33.3% | 6/18 |
| Smooth philtrum | 11.1% | 2/18 |
| Bifid uvula | 5.6% | 1/18 |
| Cleft palate | 5.6% | 1/18 |
| Cleft lip | 5.6% | 1/18 |
| Tented upper lip vermilion | 5.6% | 1/18 |
| Thick vermilion border | 5.6% | 1/18 |
| Thin upper lip vermilion | 5.6% | 1/18 |
| Visual and hearing impairments | ||
| Abnormal hearing | 11.1% | 1/9 |
| Sensorineural hearing impairment | 11.1% | 1/9 |
| Abnormal vision | 56.5% | 13/23 |
| Abnormality of vision | 30.4% | 7/23 |
| Hypermetropia | 8.7% | 2/23 |
| Astigmatism | 4.3% | 1/23 |
| Axial myopia | 4.3% | 1/23 |
| Cerebral visual impairment | 4.3% | 1/23 |
| Esotropia | 4.3% | 1/23 |
| Irregular astigmatism | 4.3% | 1/23 |
| Progressive visual loss | 4.3% | 1/23 |
| Strabismus | 4.3% | 1/23 |
| Visual impairment | 4.3% | 1/23 |
| Heart | ||
| Abnormality of the heart | 37.5% | 3/8 |
| Atrial septal defect | 12.5% | 1/8 |
| Bicuspid aortic valve | 12.5% | 1/8 |
| Congestive heart failure | 12.5% | 1/8 |
| Patent foramen ovale | 12.5% | 1/8 |
| Patent ductus arteriosus after birth at term | 12.5% | 1/8 |
| Pulmonary | ||
| Abnormality of the lungs | 70.6% | 12/17 |
| Recurrent respiratory infections | 47.1% | 8/17 |
| Recurrent upper respiratory tract infections | 23.5% | 4/17 |
| Recurrent pneumonia | 5.9% | 1/17 |
| Recurrent lower respiratory tract infections | 5.9% | 1/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 68.2% | 15/22 |
| Feeding difficulties | 59.1% | 13/22 |
| Gastroesophageal reflux | 36.4% | 8/22 |
| Constipation | 18.2% | 4/22 |
| Failure to thrive | 13.6% | 3/22 |
| Inguinal hernia | 13.6% | 3/22 |
| Tube feeding | 13.6% | 3/22 |
| Diarrhea | 4.5% | 1/22 |
| Fluctuating hepatomegaly | 4.5% | 1/22 |
| Urogenital | ||
| Abnormality of the urogenital system | 87.5% | 7/8 |
| Urinary incontinence | 75.0% | 6/8 |
| Hydronephrosis | 25.0% | 2/8 |
| Duplicated collecting system | 12.5% | 1/8 |
| Nephrolithiasis | 12.5% | 1/8 |
| Neurogenic bladder | 12.5% | 1/8 |
| Retractile testis | 12.5% | 1/8 |
| Small scrotum | 12.5% | 1/8 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 15/20 |
| Brachycephaly | 25.0% | 5/20 |
| Pectus excavatum | 25.0% | 5/20 |
| Plagiocephaly | 25.0% | 5/20 |
| Joint hypermobility | 20.0% | 4/20 |
| Hip dysplasia | 10.0% | 2/20 |
| Achilles tendon contracture | 5.0% | 1/20 |
| Adducted thumb | 5.0% | 1/20 |
| Bilateral talipes equinovarus | 5.0% | 1/20 |
| Bilateral camptodactyly | 5.0% | 1/20 |
| Broad toe | 5.0% | 1/20 |
| Contracture of the proximal interphalangeal joint of the 3rd finger | 5.0% | 1/20 |
| Contracture of the proximal interphalangeal joint of the 4th finger | 5.0% | 1/20 |
| Hyperextensibility of the knee | 5.0% | 1/20 |
| Hyperextensibility at elbow | 5.0% | 1/20 |
| Kyphosis | 5.0% | 1/20 |
| Long toe | 5.0% | 1/20 |
| Long foot | 5.0% | 1/20 |
| Lower limb asymmetry | 5.0% | 1/20 |
| Pes planus | 5.0% | 1/20 |
| Scoliosis | 5.0% | 1/20 |
| Six lumbar vertebrae | 5.0% | 1/20 |
| Small thenar eminence | 5.0% | 1/20 |
| Talipes equinovarus | 5.0% | 1/20 |
| 2-3 toe cutaneous syndactyly | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 41.7% | 5/12 |
| Fragile skin | 25.0% | 3/12 |
| Keratosis pilaris | 16.7% | 2/12 |
| Flushing | 8.3% | 1/12 |
| Generalized hypopigmentation | 8.3% | 1/12 |
| Hypertrichosis | 8.3% | 1/12 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 12.5% | 1/8 |
| Hypothyroidism | 12.5% | 1/8 |
| Abnormality of the metabolic system | 25.0% | 2/8 |
| Abnormal prolactin level | 12.5% | 1/8 |
| Abnormal circulating creatine kinase concentration | 12.5% | 1/8 |
| Abnormality of alkaline phosphatase level | 12.5% | 1/8 |
| Hyponatremia | 12.5% | 1/8 |
| Abnormality of the immune system | 50.0% | 4/8 |
| Unexplained fevers | 37.5% | 3/8 |
| Decreased total neutrophil count | 12.5% | 1/8 |
| Decreased total granulocyte count | 12.5% | 1/8 |
| Increased total leukocyte count | 12.5% | 1/8 |
| Increased total lymphocyte count | 12.5% | 1/8 |
| Recurrent upper respiratory tract infections | 12.5% | 1/8 |
| Neoplasia | ||
| Neoplasia | 12.5% | 1/8 |
| Ependymoma | 12.5% | 1/8 |