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RXYLT1

ribitol xylosyltransferase 1

HCNC Approved Symbol
RXYLT1 (HGNC:13530)
Genomic Coordinates
12:63,779,909 - 63,809,562 (12q14.2)
Synonyms
HP10481, TMEM5
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
615041AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the RXYLT1 gene.

Frequently observed phenotypes

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

No Results