has material basis in germline mutation in SBF2 Charcot-Marie-Tooth disease type 4B2 https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4b2 https://www.malacards.org/card/charcot_marie_tooth_disease_type_4b2 SBF2 Charcot-Marie-Tooth disease type 4 MESH:C535421 CMT4B2 Charcot-Marie-Tooth disease type 4B2 Orphanet:99956 UMLS:C1858278 Charcot Marie Tooth disease type 4B2 Charcot-Marie-Tooth disease, type 4B2 CMT 4B2 DOID:0110190 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. icd11.foundation:393759720 GARD:0009200 Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2 SCTID:715800000 OMIM:604563 MONDO:0011475 MEDGEN:346869 Charcot-Marie-Tooth disease type 4