EIF2B4 - Gene browser

EIF2B4

eukaryotic translation initiation factor 2B subunit delta

HCNC Approved Symbol: EIF2B4 (HGNC:3260)
Genomic Coordinates: 2:27,364,352 - 27,370,338 (2p23.3)
Synonyms: EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the EIF2B4 gene.

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

01
Patient count

Developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Developmental regression: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Fever: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Neurodevelopmental regression: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)