congenital muscular dystrophy 1B
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.
Exact Synonyms
CMD1B
congenital muscular dystrophy type 1B
MDC1B
class Information
has_dbxref
- ICD10CM:G71.2
- MIM:604801
- Congenital muscular dystrophy type 1Bordo
has_obo_namespace
disease_ontology
in_subset