MYCBP2 - Gene browser

MYCBP2

MYC binding protein 2

HCNC Approved Symbol: MYCBP2 (HGNC:23386)
Genomic Coordinates: 13:77,044,657 - 77,327,094 (13q22.3)
Synonyms: PAM, KIAA0916, FLJ10106, PHR1
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the MYCBP2 gene.

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

02
Patient count

Central hypotonia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Cerebral atrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Global developmental delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hearing loss, bilateral high-frequency, sensorineural: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hypoplastic corpus callosum: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)