Table 5.
SDS Subtype | Approximate % of patients with SDS | Chromosome location | Gene product | Exons |
---|---|---|---|---|
Classic | ||||
Autosomal recessive | >90 | 7q11.21 | SBDS | 5 |
SDS-like | ||||
Autosomal recessive | <2 | 5p13.2 | DNAJC21 | 14 |
<2 | 15q25.2 | EFL1 | 22 | |
Autosomal dominant | ||||
<2 | 14q13.2 | SRP54 | 17 |