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LARGE1

LARGE xylosyl- and glucuronyltransferase 1

HCNC Approved Symbol
LARGE1 (HGNC:6511)
Genomic Coordinates
22:33,066,663 - 33,922,824 (22q12.3)
Synonyms
KIAA0609, LARGE
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
613154AR
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
608840AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the LARGE1 gene.

Frequently observed phenotypes

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

No Results