| Metadata | |
|---|---|
| ID | DOID:0112379 |
| Name | muscular dystrophy-dystroglycanopathy type B4 |
| Definition | A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. https://pubmed.ncbi.nlm.nih.gov/17878207/ |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy FKTN-related [EXACT] MDDGB4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |