| Metadata | |
|---|---|
| ID | DOID:0110634 |
| Name | congenital muscular dystrophy 1B |
| Definition | A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. https://www.ncbi.nlm.nih.gov/pubmed/10677302 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CMD1B [EXACT] congenital muscular dystrophy type 1B [EXACT] MDC1B [EXACT] |
| Parent Relationships |