Table 1 Clinical features of subjects with mutation in POLR3B gene
| II:2 | II:3 | ||
|---|---|---|---|
| Gender | F | M | |
| Age at examination | 34 | 31 | |
| Postnatal Growth | HC (cm) | NA | NA |
| Height (cm) | NA | NA | |
| BW (gr) | NA | NA | |
| OFC (cm/SD) | 55/ + 0.62 | 57.5/ + 1.67 | |
| Height (cm) | 160 | 175 | |
| Weight (kg) | 54 | 80 | |
| Facial appearance | long palpebral fissures, flat occiput, short philtrum, protrude ear and micrognathia | long palpebral fissures, flat occiput, short philtrum, protrude ear and micrognathia | |
| Seizure | Time | – | – |
| Medication response | – | – | |
| Cognitive impairment | + | + | |
| Intelligent quotient(IQ) | 25 | 45 | |
| Spasticity | – | – | |
| Walking | + | + | |
| Hypotonia | – | – | |
| Hypertonia | – | – | |
| hyperreflexia | – | – | |
| Stiff, rigid muscles, poor muscle function and paralysis | – | – | |
| Ataxia | – | – | |
| Behaviour | Autistic behavior | + | + |
| hyper activity | – | – | |
| ADHD | + | + | |
| aggression | – | – | |
| self injury | – | – | |
| Obsession | – | – | |
| Sterotypic movement | – | – | |
| Sterotypic speech | – | – | |
| Eye | Strabismus | – | – |
| Myopia | – | – | |
| Optic atrophy | NA | NA | |
| Retinal involvement | NA | NA | |
| Cataract | – | – | |
| Nystagmus | – | – | |
| Others | – | – | |
| Ear | Hearing loss | – | – |
| Skeletal | Hand | – | – |
| Foot | – | – | |
| Spine | – | – | |
| Skin | |||
| Speech | |||
| Loss of bladder and bowel function | – | – | |
| Gallbladder problems | – | – | |
| MRI | Hypomyelination in MRI | NA | NA |