MED13L - Gene browser

MED13L

mediator complex subunit 13L

HCNC Approved Symbol: MED13L (HGNC:22962)
Genomic Coordinates: 12:115,958,576 - 116,277,693 (12q24.21)
Synonyms: KIAA1025, TRAP240L, THRAP2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the MED13L gene.

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

020
Patient count

Global developmental delay: 9 (45.0%)
Patient Count: 9 (45.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (45.0%)
Low-set ears: 5 (25.0%)
Patient Count: 5 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (25.0%)
Generalized hypotonia: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Learning difficulties: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Hypertelorism: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)