SORD - Gene browser

SORD

sorbitol dehydrogenase

HCNC Approved Symbol: SORD (HGNC:11184)
Genomic Coordinates: 15:45,023,195 - 45,077,185 (15q21.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the SORD gene.

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

015
Patient count

Polyneuropathy: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Muscle hypotrophy: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Absent achilles reflex: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Decreased vibratory sense: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Distal muscle weakness in lower limbs: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)