Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Definition

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.

Also known as autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2, Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy — per MONDO

Also identified as

• DOID 0070250 per MONDO
• OMIM 612999 per MONDO
• UMLS C2751805 per MONDO