Table 1

Percentage of clinical features reported in individuals in this article (n=32) and meta-analysis with previously published PURA individuals (n=22)6–9

Clinical featureThis article (n=max 32)Literature (n=max 22)6–9Total (n=max 54)
Percentage (%)NumberPercentage (%)NumberPercentage (%)Number
Growth
 Short stature (≤2.5 SD)195/27143/22168/49
Pregnancy/delivery
 Gestational age >41 weeks5618/32603/55721/37
Neonatal problems
 Hypotonia9731/329415/169646/48
 Feeding difficulties8125/317316/227741/53
 GORD288/29171/6269/35
 Breathing problems4815/316815/225730/53
 Hypersomnolence6619/29NRNR6619/29
 Hypothermia3710/27251/43511/31
 Excessive hiccups in utero556/11NRNR556/11
Neurological abnormality
 Moderate to severe ID10032/3210022/2210054/54
 Hypotonia9731/32804/59535/37
 Stereotypic hand movements368/22NRNR368/22
 Exaggerated startle response5811/19274/154415/34
 Epilepsy5016/325913/225429/54
 Delayed myelination289/32245/212614/53
 Movement disorder206/30303/10229/40
 Other brain abnormalities3110/32296/213016/53
Skeletal abnormality
 Scoliosis289/32182/112611/43
 Hip dysplasia237/3100/11177/42
 Hyperlaxity439/2191/113110/32
Gastrointestinalabnormality
 Constipation6218/29503/66021/35
 Drooling6620/30835/66925/36
Respiratory abnormality268/31274/152612/46
Cardiac abnormality134/32252/8156/40
Urogenital abnormality268/3191/11219/42
Ophthalmological abnormality4012/306714/215126/51
Endocrine abnormality
 Vitamin D deficiency477/15251/4428/19
 Other265/19502/4307/23
Skin abnormality
 Soft skin466/13NRNR466/13
  • GORD, gastro-oesophageal reflux disease; ID, intellectual disability; max, maximum; NR, not reported; PURA, purine-rich element binding protein A.