EFTUD2 - Gene browser

EFTUD2

elongation factor Tu GTP binding domain containing 2

HCNC Approved Symbol: EFTUD2 (HGNC:30858)
Genomic Coordinates: 17:44,849,948 - 44,899,445 (17q21.31)
Synonyms: U5-116KD, Snrp116, Snu114, SNRNP116
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the EFTUD2 gene.

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

09
Patient count

Cleft palate: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Microcephaly: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Tracheoesophageal fistula: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Intrauterine growth retardation: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Global developmental delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)