EMD - Gene browser

EMD

emerin

HCNC Approved Symbol: EMD (HGNC:3331)
Genomic Coordinates: 23:154,379,295 - 154,381,523 (Xq28)
Synonyms: STA, LEMD5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the EMD gene.

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

05
Patient count

Gowers sign: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Limb-girdle muscle weakness: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Waddling gait: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Heart failure: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Left ventricular hypertrophy: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)