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SALL1

spalt like transcription factor 1

HCNC Approved Symbol
SALL1 (HGNC:10524)
Genomic Coordinates
16:51,135,982 - 51,152,334 (16q12.1)
Synonyms
Hsal1, ZNF794, TBS
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the SALL1 gene.

Frequently observed phenotypes

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

Abnormal renal morphology
 1 (25.0%)
Kidney malformation
 1 (25.0%)
Mitral insufficiency
 1 (25.0%)
Mitral regurgitation
 1 (25.0%)
Periauricular skin tag
 1 (25.0%)
SALL1 - Gene browser | 3billion