MTOR - Gene browser

MTOR

mechanistic target of rapamycin kinase

HCNC Approved Symbol: MTOR (HGNC:3942)
Genomic Coordinates: 1:11,106,535 - 11,262,551 (1p36.22)
Synonyms: RAFT1, RAPT1, FLJ44809, FRAP, FRAP2, FRAP1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

26Patients

In total, 26 patients were diagnosed with a variant in the MTOR gene.

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

026
Patient count

Macrocephaly: 13 (50.0%)
Patient Count: 13 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
13 (50.0%)
Global developmental delay: 11 (42.3%)
Patient Count: 11 (42.3%)
% of total patients presenting each phenotype is shown in parentheses.
11 (42.3%)
Hypotonia: 5 (19.2%)
Patient Count: 5 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (19.2%)
Delayed speech and language development: 5 (19.2%)
Patient Count: 5 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (19.2%)
Failure to thrive: 4 (15.4%)
Patient Count: 4 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (15.4%)