From: Expanding our knowledge of conditions associated with the ASXL gene family
Features | Patients with ASXL1 mutations (%) | Patients with ASXL3 mutations (%) |
---|---|---|
Clinical | Â | Â |
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 | Â | Â |
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 | Â | Â |
Low posterior hairline | 6/9 (67) | - |
Hypertrichosis | 8/9 (89) | 1/4 (25) |
Deep palm creases | 5/9 (55) | 4/4 (100) |
Neurological/skeletal | Â | Â |
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 | Â | Â |
Cardiac abnormalities | 3/9 (33) | - |
Genital abnormalities | 3/9 (33) | 1/4 (25) |
Renal abnormalities | 2/9 (22) | - |