Table 5.
SDS genetic subtypes
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
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
View Large
Close Modal
Close Modal
This Feature Is Available To Subscribers Only
Sign In
or
Create an Account
Close Modal
Close Modal