MECP2 - Gene browser

MECP2

methyl-CpG binding protein 2

HCNC Approved Symbol: MECP2 (HGNC:6990)
Genomic Coordinates: 23:154,021,573 - 154,097,717 (Xq28)
Synonyms: RTT, MRX16, MRX79
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

90Patients

In total, 90 patients were diagnosed with a variant in the MECP2 gene.

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

090
Patient count

Global developmental delay: 21 (23.3%)
Patient Count: 21 (23.3%)
% of total patients presenting each phenotype is shown in parentheses.
21 (23.3%)
Developmental regression: 16 (17.8%)
Patient Count: 16 (17.8%)
% of total patients presenting each phenotype is shown in parentheses.
16 (17.8%)
Microcephaly: 15 (16.7%)
Patient Count: 15 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
15 (16.7%)
Developmental delay: 13 (14.4%)
Patient Count: 13 (14.4%)
% of total patients presenting each phenotype is shown in parentheses.
13 (14.4%)
Stereotypy: 12 (13.3%)
Patient Count: 12 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
12 (13.3%)