Neuropathy, hereditary motor and sensory, type 6B

Definition

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.

Also known as Charcot-Marie-Tooth disease, type 6B, CMT6B, hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46, HMSN 6B, HMSN6B, neuropathy, hereditary motor and sensory, type 6B, neuropathy, hereditary motor and sensory, type VIB, SLC25A46 hereditary motor and sensory neuropathy type 6 — per MONDO

Also identified as

• OMIM 616505 per MONDO
• UMLS C4225302 per MONDO