RPL13 - Gene browser

RPL13

ribosomal protein L13

HCNC Approved Symbol: RPL13 (HGNC:10303)
Genomic Coordinates: 16:89,560,657 - 89,566,829 (16q24.3)
Synonyms: D16S444E, BBC1, L13, eL13
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the RPL13 gene.

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

06
Patient count

Short stature: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Skeletal dysplasia: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Epiphyseal abnormality: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Genu valgus: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Pectus excavatum: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)