Metadata | |
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ID | DOID:0112380 |
Name | muscular dystrophy-dystroglycanopathy type B2 |
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/ |
Xrefs | |
Synonyms |
congenital muscular dystrophy POMT2-related [EXACT] MDDGB2 [EXACT] |
Parent Relationships |