Nemaline myopathy 6

Definition

Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.

Also known as KBTBD13 nemaline myopathy, nemaline myopathy 6, nemaline myopathy caused by mutation in KBTBD13, nemaline myopathy type 6 — per MONDO

Also identified as

• DOID 0110935 per MONDO
• MESH C538398 per MONDO
• OMIM 609273 per MONDO
• UMLS C1836472 per MONDO