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SLC26A2

solute carrier family 26 member 2

HCNC Approved Symbol
SLC26A2 (HGNC:10994)
Genomic Coordinates
5:149,960,758 - 149,987,400 (5q32)
Synonyms
DTDST, DTD
Disease Associations
This gene is associated with the following 6 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Achondrogenesis Ib
600972AR
Atelosteogenesis, type II
256050AR
De la Chapelle dysplasia
256050AR
Diastrophic dysplasia
222600AR
Diastrophic dysplasia, broad bone-platyspondylic variant
222600AR
Epiphyseal dysplasia, multiple, 4
226900AR

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the SLC26A2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Skeletal dysplasia
 5 (62.5%)
Short stature
 4 (50.0%)
Cleft palate
 3 (37.5%)
Growth retardation
 2 (25.0%)
Growth retardation, postnatal
 2 (25.0%)