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Table 1 Characteristics of patients according to literature and GenIDA series

From: Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review

Features

GenIDA patients (%)

Literature patients (%)

Mean age (years) [range]

14 [4–51]

9.7 [0.5–39]

Visual impairment

29/38 (76.0)

42/46 (91.3)

Intellectual disability

28/41 (68.0)

86/86 (100)

Absent speech (if patient > 2years old)

12/37 (32.4)

30/72 (41.7)

Isolated words

7/41 (17.1)

Not evaluated

Elocution abnormality

17/41 (41.4)

Not evaluated

Nonverbal communication

14/41 (34.1)

Not evaluated

Cardiac defect

5/37 (13.5)

22/78 (28.2)

Seizures

4/37 (10.8)

16/67 (23.9)

Autism

9/28 (32.1)

25/65 (38.5)

Hearing defect

13/41 (32.0)

42/46 (91.0)

Vision impairment

32/41 (78.0)

42/45 (93.3)

Hypermetropia

21/41 (51.2)

12/45 (26.6)

Strabismus

16/41 (39.0)

16/45 (35.5)

Dental abnormality

16/41 (39.0)

5/5 (100)

Musculoskeletal issues

27/41 (66.0)

5/5 (100)

Walking difficulties

25/41 (61.0)

Not available

Feeding disorders

20/42 (47.0)

23/30 (79.0)