ESCO2 - Gene browser

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

HCNC Approved Symbol: ESCO2 (HGNC:27230)
Genomic Coordinates: 8:27,771,974 - 27,819,660 (8p21.1)
Synonyms: EFO2, RBS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the ESCO2 gene.

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

01
Patient count

Abnormal hands: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Abnormal wrist bones: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Abnormality of the leg: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Bilateral: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Bone fractures: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)