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LTBP2

latent transforming growth factor beta binding protein 2

HCNC Approved Symbol
LTBP2 (HGNC:6715)
Genomic Coordinates
14:74,498,183 - 74,612,237 (14q24.3)
Synonyms
LTBP3, C14orf141
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Weill-Marchesani syndrome 3, recessive
614819AR
Glaucoma 3, primary congenital, D
613086-
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
251750AR

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the LTBP2 gene.

Frequently observed phenotypes

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

Congenital glaucoma
 3 (42.9%)
Vision loss
 3 (42.9%)
Abnormality of the anterior segment of the eye
 2 (28.6%)
Eye disease
 2 (28.6%)
Visual impairment
 2 (28.6%)