Term Name: congenital muscular dystrophy 1B
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 )

Relationships
is a type of: autosomal recessive disease congenital muscular dystrophy