/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

Rare Disease

MONDO:0014022

Also Known As

RXYLT1 muscular dystrophy-dystroglycanopathy, type Amuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1MDDGA10Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

RXYLT1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615041 ↗

GARD

GARD:15898 ↗

Related Diseases

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

MONDO:0009364

Rare

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

MONDO:0009667

Rare

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

MONDO:0009678

Rare

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

MONDO:0013154

Rare

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

MONDO:0013157

Rare

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

MONDO:0013158

Rare

← Back to All Diseases