Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Definition

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.

Also known as autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy — per MONDO

Also identified as

• DOID 0070249 per MONDO
• MESH C567831 per MONDO
• OMIM 612998 per MONDO
• UMLS C2751807 per MONDO