Term Name: | congenital muscular dystrophy 1B |
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Synonyms: | congenital muscular dystrophy type 1B, MDC1B |
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. |
Ontology: | Human Disease [DOID:0110634] ( DOID:0110634 ) |