Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Definition

Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.

Also known as autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, LMNA autosomal recessive Emery-Dreifuss muscular dystrophy — per MONDO

Also identified as

• DOID 0070248 per MONDO
• MESH C567633 per MONDO
• OMIM 616516 per MONDO
• Orphanet 98855 per MONDO
• UMLS C2750035 per MONDO