Table 1.
Phenotypic overlap of patient W20.1 presented here and individuals reported to have mutations in ACTB and ACTG1 in the literature [Riviere et al., 2012]
| BRWS1 ACTB |
BRWS2 ACTG1 |
W20.1 | |
|---|---|---|---|
| Growth | |||
| Short Stature | 6/10 | 3/7 | + |
| Microcephaly postnatal | 6/9 | 4/7 | + |
| Neurological | |||
| Intellectual Disability | 9/9 | 5/5 | + |
| Hearing loss | 4/8 | 5/6 | +, conductive |
| Seizures | 9/9 | 7/8 | − |
| Facial dysmorphism | |||
| Metopic ridging | 8/10 | 7/7 | + |
| Widely spaced eyes | 10/10 | 7/8 | + |
| High-arched eyebrows | 10/10 | 7/7 | − |
| Ptosis, congenital | 10/10 | 8/8 | +, unilateral |
| Eyes | |||
| Coloboma | 6/10 | 5/7 | − |
| Lissencephaly-type pachygria | 8/8 | 7/7 | − |