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LTBP4

latent transforming growth factor beta binding protein 4

HCNC Approved Symbol
LTBP4 (HGNC:6717)
Genomic Coordinates
19:40,593,166 - 40,629,820 (19q13.2)
Synonyms
LTBP-4, LTBP-4L, FLJ46318, FLJ90018
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the LTBP4 gene.

Frequently observed phenotypes

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

Hypermobility of joints
 2 (33.3%)
Myotonia of the face
 2 (33.3%)
Pectus excavatum
 2 (33.3%)
Rectal prolapse
 2 (33.3%)
Recurrent pneumonia
 2 (33.3%)
LTBP4 - Gene browser | 3billion