EBP - Gene browser

EBP

EBP cholestenol delta-isomerase

HCNC Approved Symbol: EBP (HGNC:3133)
Genomic Coordinates: 23:48,521,808 - 48,528,716 (Xp11.23)
Synonyms: CPX, CPXD, CHO2, CDPX2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the EBP gene.

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

011
Patient count

Intellectual disability: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Developmental delay: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Ichthyosis: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Difficulty walking: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Mental retardation: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)