congenital muscular dystrophy 1B

Term ID

DOID:0110634

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. https://www.ncbi.nlm.nih.gov/pubmed/10677302

References

• ICD10CM:G71.2
• OMIM:604801
• ORDO:98893

Ontology

Human Disease   ( DOID:0110634 )