NBEA - Gene browser

NBEA

neurobeachin

HCNC Approved Symbol: NBEA (HGNC:7648)
Genomic Coordinates: 13:34,942,270 - 35,672,736 (13q13.3)
Synonyms: KIAA1544, BCL8B, FLJ10197, LYST2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the NBEA gene.

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

011
Patient count

Global development delay: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Intellectual disability: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Epilepsy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Microcephaly: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Autism spectrum disorder: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)