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. 2015 Sep 9;24(5):660–665. doi: 10.1038/ejhg.2015.186

Table 1. Cohort characteristics.

Characteristic Number of patients
Gender
 Male 17
 Female 8
   
Age group
 <4 years 4
 4–10 years 9
 11–20 years 6
 >20 years 6
   
Visual acuity
 ≤0.3 and ≥0.05 24
 <0.05 1
   
Fixation abnormalities
 Yes 13
 No 12
   
Visual field defects
 Yes 17
 No 8
   
Developmental delay and/or intellectual disability
 Yes 25
 No 0
   
Able to walk independently
 Yes 15
 No 10
   
Speak words
 Yes 12
 No 13
   
Microcephaly (<3rd centile)
 Yes 4
 No 20
 Unknown 1
   
Macrocephaly (>97th centile)
 Yes 3
 No 21
 Unknown 1
   
Abnormality on brain MRI
 Yes 14
 No 8
 Not assessed 3
   
Epilepsy
 Yes 9
 No 16
   
Hearing loss
 Yes 1
 No 23
 Unknown 1