Charcot-Marie-Tooth disease axonal type 2K

Definition

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

Also known as ARCMT2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K, autosomal recessive axonal CMT4C4, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K — per MONDO

Also identified as

• DOID 0110167 per MONDO
• OMIM 607831 per MONDO
• Orphanet 101097 per MONDO
• SCTID 725047007 per MONDO
• UMLS C1842983 per MONDO