IGHMBP2 - Gene browser

IGHMBP2

immunoglobulin mu DNA binding protein 2

HCNC Approved Symbol: IGHMBP2 (HGNC:5542)
Genomic Coordinates: 11:68,903,891 - 68,940,601 (11q13.3)
Synonyms: ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the IGHMBP2 gene.

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

010
Patient count

Areflexia, lower limbs: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Developmental delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Distal muscular atrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Gait disturbances: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Pes calcaneovarus: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)