Table 5.

SDS genetic subtypes

SDS SubtypeApproximate % of patients with SDSChromosome locationGene productExons
Classic     
 Autosomal recessive >90 7q11.21 SBDS 
SDS-like     
 Autosomal recessive <2 5p13.2 DNAJC21 14 
 <2 15q25.2 EFL1 22 
 Autosomal dominant     
 <2 14q13.2 SRP54 17 
SDS SubtypeApproximate % of patients with SDSChromosome locationGene productExons
Classic     
 Autosomal recessive >90 7q11.21 SBDS 
SDS-like     
 Autosomal recessive <2 5p13.2 DNAJC21 14 
 <2 15q25.2 EFL1 22 
 Autosomal dominant     
 <2 14q13.2 SRP54 17 
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