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Table 1 Phenotypic scoring system

From: Non-random X chromosome inactivation in Aicardi syndrome

Phenotypic Feature Finding Score N (%)
Agenesis of the Corpus Callosuma (N = 33) No 0 0 (0)
Partial 1 11 (33.3)
Complete 2 22 (66.7)
Infantile Spasms (N = 31) No 0 2 (6.5)
Yes 1 29 (93.5)
Microgyriaa (N = 21) No 0 2 (9.5)
Yes 1 19 (90.5)
Heterotopiasa (N = 22) No 0 3 (13.6)
Yes 1 19 (86.4)
Intracranial Cystsa (N = 26) No 0 4 (15.4)
Yes 1 22 (84.6)
Retinal Lacunaeb (N = 31) No 0 2 (6.5)
Unable to Assess 1 1 (3.2)
Unilateral 2 3 (9.7)
Bilateral 3 25 (80.6)
Microphthalmiab (N = 31) No 0 21 (67.8)
Unilateral 2 9 (29)
Bilateral 3 1 (3.2)
Optic Nerve Abnormalityb (N = 31) No 0 2 (6.5)
Unable to Assess 1 2 (6.5)
Unilateral 2 10 (32.2)
Bilateral 3 17 (54.8)
Facial asymmetry (N = 26) No 0 23 (88.5)
Yes 1 3 (11.5)
Absent or Abnormal Ribsc (N = 25) No 0 18 (72)
Yes 1 7 (28)
Vertebral Abnormalitiesc (N = 21) No 0 11 (52.3)
Yes 1 10 (47.6)
  1. Phenotypic features of girls with AIC were given a weighted score relative to their severity or to their unilateral or bilateral presence. All values were added to calculate an overall composite severity score (CSS) for each individual
  2. aValues for selected features were added to calculate a neurological CSS for each individual
  3. bValues for selected features were added to calculate a ophthalmological CSS for each individual
  4. cValues for selected features were added to calculate a skeletal CSS for each individual
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