Table 1 Comparison of clinical features among patients with ASXL1 and 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)

-