has material basis in germline mutation in MTMR2 Charcot-Marie-Tooth disease type 4B1 https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4b1 https://www.malacards.org/card/charcot_marie_tooth_disease_type_4b1 MONDO:0011066 Charcot-Marie-Tooth disease, type 4B1 DOID:0110191 CMT 4B MTMR2 Charcot-Marie-Tooth disease type 4 GARD:0001253 OMIM:601382 Charcot Marie Tooth disease type 4B1 SCTID:715803003 CMT 4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). CMT4B1 MESH:C535420 MEDGEN:321947 icd11.foundation:776238355 Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 UMLS:C1832399 Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2 Charcot-Marie-Tooth disease type 4