has material basis in germline mutation in NEFL Charcot-Marie-Tooth disease type 1F https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_1f https://www.malacards.org/card/charcot_marie_tooth_disease_type_1f UMLS:C1843164 NEFL Charcot-Marie-Tooth disease type 1 GARD:0009191 MEDGEN:334337 Charcot-Marie-Tooth disease, demyelinating, type 1F Charcot-Marie-Tooth disease, type 1F DOID:0110149 Orphanet:101085 MESH:C537987 CMT 1F OMIM:607734 Charcot Marie Tooth disease type 1F CMT1F SCTID:719980006 A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL MONDO:0011902 icd11.foundation:1160290076 Charcot-Marie-Tooth disease type 1