Table 1 Clinical features of subjects with mutation in POLR3B gene
| Â | Â | II:2 | II:3 |
|---|---|---|---|
Gender | Â | F | M |
Age at examination | Â | 34 | 31 |
Postnatal Growth | HC (cm) | NA | NA |
| Â | Height (cm) | NA | NA |
| Â | BW (gr) | NA | NA |
OFC (cm/SD) |  | 55/ + 0.62 | 57.5/ + 1.67 |
Height (cm) | Â | 160 | 175 |
Weight (kg) | Â | 54 | 80 |
Facial appearance | Â | 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) | Â | 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 | – | – |
| Â | Optic atrophy | NA | NA |
| Â | Retinal involvement | NA | NA |
|  | Cataract | – | – |
|  | Nystagmus | – | – |
|  | Others | – | – |
Ear | Hearing loss | – | – |
Skeletal | Hand | – | – |
|  | Foot | – | – |
|  | Spine | – | – |
Skin | Â | Â | Â |
Speech | Â | Â | Â |
Loss of bladder and bowel function |  | – | – |
Gallbladder problems |  | – | – |
MRI | Hypomyelination in MRI | NA | NA |