EEF1D - Gene browser

EEF1D

eukaryotic translation elongation factor 1 delta

HCNC Approved Symbol: EEF1D (HGNC:3211)
Genomic Coordinates: 8:143,579,728 - 143,597,415 (8q24.3)
Synonyms: EF-1D, FLJ20897
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the EEF1D gene.

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

03
Patient count

Global developmental delay: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Abnormality of the cerebral white matter: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Almond-shaped palpebral fissure: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Anteverted nares: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Frontotemporal cerebral atrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)