Medical feature | Nesslinger et al. [[35]] | Phelan et al. [[27]]a | Luciani et al. [[33]] | Manning et al. [[34]] | Koolen et al. [[32]] | Jeffries et al. [[31]] | Cusmano-Ozog et al. [[41]]a | Dhar et al. [[30]] | Rollins [[38]]a | Denayer et al. [[29]] | Sarasua et al. [[40]]a | Soorya et al. [[37]] | Sarasua et al. [[39]]a | Average (%) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
n= 7 | n= 37 | n= 33 | n= 11 | n= 9 | n= 30 | n= 107 | n=13 | n= 43 | n= 7 | n= 54 | n= 32 | n= 201 | ||
Hypotonia | 100% (7/7) | 97% (36/37) | 82% (27/33) | 82% (9/11) | 89% (8/9) | 47% (14/30) | 86% (92/107) | 31% (4/13) | n/a | 29% (2/7) | 80% (48/60) | 75% (24/32) | 75% (82/110) | 73 |
Sleep disturbance | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 41% (13/32) | 46% (12/26) | 44 |
Gastroesophageal reflux | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 44% (14/32) | 42% (62/149) | 43 |
Increased pain tolerance | n/a | n/a | n/a | 0% | n/a | 10% (3/30) | 31% (33/107) | n/a | n/a | n/a | n/a | 88% (28/32) | 77% (131/170) | 42 |
Constipation/diarrhea | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 38% (12/32) | 41% (11/27) | 40 |
Brain imaging abnormalities | 14% (1/7) | n/a | n/a | 9% (2/23) | n/a | 7% (2/30) | n/a | 56% (5/9) | n/a | 43% (3/7) | n/a | 75% (21/28) | 19% (24/129) | 32 |
Recurring upper respiratory tract infections | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 8% (1/13) | n/a | n/a | n/a | 53% (17/32) | n/a | 30 |
Renal abnormalities | n/a | n/a | n/a | n/a | n/a | 17% (5/30) | n/a | n/a | n/a | n/a | n/a | 38% (12/32) | 26% (39/148) | 27 |
Lymphedema | 29% (2/7) | n/a | n/a | n/a | n/a | n/a | n/a | 23% (3/13) | n/a | n/a | n/a | 22% (7/32) | 24% (26/108) | 25 |
Seizures (febrile and/or non-febrile) | 14% (1/7) | 27% (10/37) | 24% (8/33) | 27% (3/11) | n/a | 17% (5/30) | 23% (25/107) | 31% (4/13) | n/a | 14% (1/7) | 19% (10/54) | 41% (13/32) | 27% (41/151) | 24 |
Esotropia/strabismus | n/a | n/a | n/a | n/a | n/a | 13% (4/30) | n/a | n/a | n/a | 14% (1/7) | 25% (13/53) | 6% (2/32) | 26% (29/109) | 17 |
Short stature/delayed growth | 0% (0/7) | n/a | 12% (4/33) | n/a | n/a | n/a | 11% (12/107) | n/a | 12% (5/43) | n/a | 13% (5/40) | 13% (4/32) | 11% (11/96) | 12 |
Tall stature/accelerated growth | 14% (1/7) | n/a | 18% (6/33) | n/a | n/a | 7% (2/30) | n/a | n/a | 11% (5/43) | n/a | 13% (5/40) | 3% (1/32) | 9% (9/96) | 11 |
Cardiac defects | n/a | n/a | n/a | n/a | n/a | 13% (4/30) | n/a | n/a | n/a | n/a | n/a | 3% (1/32) | n/a | 8 |
Precocious or delayed puberty | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 0% (0/32) | 12% (15/121) | 6 |
Hypothyroidism | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 3% (1/32) | 6% (7/121) | 5 |