KDSR - Gene browser | 3billion

KDSR

KDSR

3-ketodihydrosphingosine reductase

HCNC Approved Symbol: KDSR (HGNC:4021)
Genomic Coordinates: 18:63,327,726 - 63,367,206 (18q21.33)
Synonyms: DHSR, SDR35C1, FVT1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the KDSR gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Growth delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Ichthyosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

KDSR - Gene browser | 3billion