has material basis in germline mutation in SH3TC2 Charcot-Marie-Tooth disease type 4C https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4c https://www.malacards.org/card/charcot_marie_tooth_disease_type_4c_2 Charcot-Marie-Tooth disease, type 4C icd11.foundation:382219984 Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. SH3TC2 Charcot-Marie-Tooth disease type 4 CMT 4C SCTID:715797002 OMIM:601596 CMT4C Charcot-Marie-Tooth disease type 4C NCIT:C129864 MESH:C535423 UMLS:C1866636 DOID:0110183 MONDO:0011113 GARD:0009201 Orphanet:99949 Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2 Charcot Marie Tooth disease type 4C MEDGEN:356581 Charcot-Marie-Tooth disease type 4