ELOVL4 - Gene browser

ELOVL4

ELOVL fatty acid elongase 4

HCNC Approved Symbol: ELOVL4 (HGNC:14415)
Genomic Coordinates: 6:79,914,814 - 79,947,553 (6q14.1)
Synonyms: CT118, STGD2, STGD3, SCA34
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the ELOVL4 gene.

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

03
Patient count

Congenital ichthyosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Dolichocephaly: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Facial dysmorphism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypotonia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Psychomotor delay: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)