About   Help   FAQ
Disease Ontology Browser
congenital muscular dystrophy-dystroglycanopathy type A8 (DOID:0111231)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; MDDGA8; Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
Alt IDs: OMIM:614830
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory