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Table 3 Neurological disorders in our cohort of patients

From: CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Neurological disorders: type

Patients with CNS structural abnormalities % (n°)

Patients without CNS structural abnormalities % (n°)

Total number of patients % (n°)

Motor delay

24.6 (15/61)

25 (2/8)

24.64 (17/69)

Epilepsy

14.75 (9/61)

12.5 (1/8)

14.49 (10/69)

Hypotonia

8.2 (5/61)

0 (0/8)

7.25 (5/69)

Cranial nerve disorders

8.2 (5/61)

0 (0/8)

7.25 (5/69)

Sensorineural hearing loss

6.56 (4/61)

0 (0/8)

5.8 (4/69)

Spasticity

4.92 (3/61)

0 (0/8)

4.35 (3/69)

Motor coordination deficits

3.28 (2/61)

12.5 (1/8)

4.35 (3/69)

Hemiparesis

3.28 (2/61)

0 (0/8)

2.9 (2/69)

Nystagmus

3.28 (2/61)

0 (0/8)

2.9 (2/69)

Total

55.74 (34/61)

37.5 (3/8)

53.62 (37/69)