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Table 1 Comparison of clinical features among patients with ASXL1 and ASXL3 mutations

From: Expanding our knowledge of conditions associated with the ASXL gene family

Features Patients with ASXL1 mutations (%) Patients with ASXL3 mutations (%)
Clinical   
Feeding difficulties 8/8 (100) 3/4 (75)
Severe/profound ID 8/8 (100) 4/4 (100)
IUGR 8/9 (89) 3/4 (75)
Recurrent infections 5/8 (62) -
Seizures 5/8 (62) -
Apneas 4/8 (50) -
Craniofacial   
Prominent eyes 9/9 (100) 2/4 (50)
Myopia 7/8 (87) -
Retinal/optic-nerve abnormalities 5/8 (62) -
Strabismus 4/8 (50) -
Ocular hypertelorism 5/9 (55) 2/4 (50)
Flammeus nevus 8/9 (89) -
Arched, thin eyebrows - 3/4 (75)
Broad, prominent forehead 8/9 (89) -
Microcephaly 9/9 (100) 3/4 (75)
Micro/retrognathia 8/9 (89) 1/4 (25)
Depressed nasal bridge 4/8 (50) 2/4 (50)
Anteverted nares 4/8 (50) 3/4 (75)
Low-set posteriorly rotated ears 6/9 (67) 3/4 (75)
Upslanting palpebral fissures 6/9 (67) -
Broad alveolar ridges/high narrow palate 7/8 (87) 3/4 (75)
Cleft palate 3/9 (33) -
Hair/skin   
Low posterior hairline 6/9 (67) -
Hypertrichosis 8/9 (89) 1/4 (25)
Deep palm creases 5/9 (55) 4/4 (100)
Neurological/skeletal   
BOS posture 9/9 (100) -
Ulnar hand deviation - 3/4 (75)
Brain abnormalities 7/9 (78) 1/4 (25)
Fixed contractures 8/9 (89) -
Congenital dislocations 6/9 (67) -
Hypotonia 7/9 (78) 2/4 (50)
Other   
Cardiac abnormalities 3/9 (33) -
Genital abnormalities 3/9 (33) 1/4 (25)
Renal abnormalities 2/9 (22) -
  1. BOS, Bohring-Opitz syndrome; ID, intellectual disabilities; IUGR, intrauterine growth restriction. The first column includes the seven patients reported in [4] and the two reported in [5]. The second column includes the four cases reported in [1]. This table is adapted from [5]. When a specific feature is not reported, the patient is not considered in the calculation.