muscular dystrophy-dystroglycanopathy type B2

Term ID

DOID:0112380

Synonyms

• congenital muscular dystrophy POMT2-related
• MDDGB2

Definition

A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://pubmed.ncbi.nlm.nih.gov/17634419/

References

• OMIM:613156

Ontology

Human Disease   ( DOID:0112380 )