BCL11B - Gene browser

BCL11B

BCL11 transcription factor B

HCNC Approved Symbol: BCL11B (HGNC:13222)
Genomic Coordinates: 14:99,169,287 - 99,272,197 (14q32.2)
Synonyms: CTIP-2, CTIP2, hRIT1-alpha, SMARCM2, ZNF856B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the BCL11B gene.

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

06
Patient count

Global developmental delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hypertelorism: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Growth delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hypergammaglobulinemia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Microcephaly: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)