DHDDS - Gene browser

DHDDS

dehydrodolichyl diphosphate synthase subunit

HCNC Approved Symbol: DHDDS (HGNC:20603)
Genomic Coordinates: 1:26,432,321 - 26,471,306 (1p36.11)
Synonyms: HDS, FLJ13102, DS, RP59, hCIT
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the DHDDS gene.

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

013
Patient count

Epilepsy: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Global developmental delay: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Seizure: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Seizures: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Clonus: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)