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Table 1 Clinical features of subjects with mutation in POLR3B gene

From: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

   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
  1.  + , present; –, absent; MRI, magnetic resonance imaging; NA, not available; OFC, occipital frontal circumference; and SD: standard deviation