Table 2 Extracutaneous symptoms: occurrence of extracutaneous symptoms as reported in 23 articles

Mental and motor retardation

55

[1, 4, 7, 9–16]

Cramps/seizures

41

[1, 4, 5, 7, 10–12, 15, 17–20]

Delayed motor and mental development

20

[2, 11, 13–22]

Hypotonia

15

[1, 5, 11, 17–20, 22, 23]

Microcephaly

12

[1, 7, 12]

Other

16

[5, 7, 11, 14, 15, 17–21]

Musculoskeletal

Craniofacial abnormalities

24

[4, 5, 12, 13, 17, 20, 22]

Scoliosis

17

[1, 2, 6, 16, 17, 23]

Short stature

12

[1, 4]

Hemihypertrophy

10

[3, 7, 10, 13, 17, 19, 21]

Clinodactyly

9

[1–3, 9, 16]

Thorax deformities

9

[1, 5, 13, 21]

Other

39

[1–6, 9, 11–14, 17–23]

Ocular

Hypo-hypertelorism

9

[1, 2, 9, 14–17, 22]

Other

35

[1, 2, 5, 7, 11, 14, 15, 17, 20–23]

Cardiac

Other

6

[1, 20, 22]