DYNC2H1 - Gene browser

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

HCNC Approved Symbol: DYNC2H1 (HGNC:2962)
Genomic Coordinates: 11:103,109,426 - 103,479,863 (11q22.3)
Synonyms: hdhc11, DHC2, DHC1b, DYH1B, DNCH2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the DYNC2H1 gene.

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

017
Patient count

Short ribs: 9 (52.9%)
Patient Count: 9 (52.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (52.9%)
Brachydactyly: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Narrow, bell-shaped thorax: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Patent ductus arteriosus: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Polydactyly: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)