congenital muscular dystrophy 1B (DOID:0110634)
Alliance: disease page
Synonyms: CMD1B; congenital muscular dystrophy type 1B; MDC1B
Alt IDs: OMIM:604801, ICD10CM:G71.2, ORDO:98893
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.