POLR3GL
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/4 |
| Female | 100.0% | 4/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 25.0% | 1/4 |
| < P3 : Birth length less than 3rd percentile | 25.0% | 1/4 |
| Birth Weight abnormalities | 25.0% | 1/4 |
| < P3 : Small for gestational age | 25.0% | 1/4 |
| Birth Head circumference abnormalities | 25.0% | 1/4 |
| < P3 : Congenital microcephaly | 25.0% | 1/4 |
| Current Height abnormalities | 100.0% | 4/4 |
| < P3 : Short stature | 100.0% | 4/4 |
| Current Weight abnormalities | 25.0% | 1/4 |
| < P3 : Decreased body weight | 25.0% | 1/4 |
| Current Head circumference abnormalities | 50.0% | 2/4 |
| < P3 : Microcephaly | 50.0% | 2/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 4/4 |
| Muscular hypotonia | 50.0% | 2/4 |
| Dysarthria | 25.0% | 1/4 |
| Hyperreflexia | 25.0% | 1/4 |
| Muscular hypotonia of the trunk | 25.0% | 1/4 |
| Sleep disturbance | 25.0% | 1/4 |
| Spastic paraplegia | 25.0% | 1/4 |
| Spasticity | 25.0% | 1/4 |
| Behavioral problems | 50.0% | 1/2 |
| Autistic behavior | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 2/2 |
| Abnormality of the cerebral white matter | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| Communicating hydrocephalus | 50.0% | 1/2 |
| Ventriculomegaly | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 2/4 |
| Low-set, posteriorly rotated ears | 25.0% | 1/4 |
| Protruding ear | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 4/4 |
| Proptosis | 50.0% | 2/4 |
| Upslanted palpebral fissure | 50.0% | 2/4 |
| Hypertelorism | 25.0% | 1/4 |
| Short palpebral fissure | 25.0% | 1/4 |
| Abnormality of the nose | 75.0% | 3/4 |
| Broad nasal tip | 25.0% | 1/4 |
| Convex nasal ridge | 25.0% | 1/4 |
| Hypoplastic nasal bridge | 25.0% | 1/4 |
| Prominent nasal bridge | 25.0% | 1/4 |
| Underdeveloped nasal alae | 25.0% | 1/4 |
| Abnormality of the mouth | 100.0% | 4/4 |
| Oligodontia | 75.0% | 3/4 |
| Downturned corners of mouth | 50.0% | 2/4 |
| Microdontia | 50.0% | 2/4 |
| Smooth philtrum | 50.0% | 2/4 |
| Thin vermilion border | 50.0% | 2/4 |
| High palate | 25.0% | 1/4 |
| Narrow mouth | 25.0% | 1/4 |
| Retrognathia | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal hearing | 25.0% | 1/4 |
| Progressive hearing impairment | 25.0% | 1/4 |
| Abnormal vision | 75.0% | 3/4 |
| Hypermetropia | 50.0% | 2/4 |
| Abnormality of refraction | 25.0% | 1/4 |
| Amblyopia | 25.0% | 1/4 |
| Astigmatism | 25.0% | 1/4 |
| Posterior subcapsular cataract | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Bicuspid aortic valve | 100.0% | 1/1 |
| Secundum atrial septal defect | 100.0% | 1/1 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 2/2 |
| Hypoventilation | 50.0% | 1/2 |
| Neonatal asphyxia | 50.0% | 1/2 |
| Pneumonia | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Gastrostomy tube feeding in infancy | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 66.7% | 2/3 |
| Hypoplastic labia minora | 33.3% | 1/3 |
| Neurogenic bladder | 33.3% | 1/3 |
| Recurrent urinary tract infections | 33.3% | 1/3 |
| Recurrent cystitis | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Hyperostosis | 75.0% | 3/4 |
| 2-3 toe syndactyly | 75.0% | 3/4 |
| Short toe | 50.0% | 2/4 |
| Bilateral talipes equinovarus | 25.0% | 1/4 |
| Brachydactyly syndrome | 25.0% | 1/4 |
| Camptodactyly | 25.0% | 1/4 |
| Hallux varus | 25.0% | 1/4 |
| Hip Subluxation | 25.0% | 1/4 |
| Hyperextensibility of the finger joints | 25.0% | 1/4 |
| Joint contracture of the 5th finger | 25.0% | 1/4 |
| Joint laxity | 25.0% | 1/4 |
| Kyphosis | 25.0% | 1/4 |
| Long hallux | 25.0% | 1/4 |
| Long fingers | 25.0% | 1/4 |
| Lumbar hyperlordosis | 25.0% | 1/4 |
| Shoulder subluxation | 25.0% | 1/4 |
| Talipes equinovarus | 25.0% | 1/4 |
| Thoracic kyphosis | 25.0% | 1/4 |
| Ulnar deviation of finger | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 1/4 |
| Hemangioma | 25.0% | 1/4 |