DYNC1H1 - Gene browser

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

HCNC Approved Symbol: DYNC1H1 (HGNC:2961)
Genomic Coordinates: 14:101,964,573 - 102,056,443 (14q32.31)
Synonyms: Dnchc1, HL-3, p22, DHC1, CMT2O, DNECL, DNCL, DNCH1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

30Patients

In total, 30 patients were diagnosed with a variant in the DYNC1H1 gene.

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

030
Patient count

Muscle weakness: 4 (13.3%)
Patient Count: 4 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (13.3%)
Global developmental delay: 4 (13.3%)
Patient Count: 4 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (13.3%)
Intellectual disability: 3 (10.0%)
Patient Count: 3 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.0%)
Hypotonia: 2 (6.7%)
Patient Count: 2 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (6.7%)
Bilateral talipes equinovarus: 2 (6.7%)
Patient Count: 2 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (6.7%)