has material basis in germline mutation in PMP22 Charcot-Marie-Tooth disease type 1E https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/charcot_marie_tooth_disease_and_deafness https://www.malacards.org/card/charcot_marie_tooth_disease_type_1 Charcot-Marie-Tooth disease-deafness syndrome MONDO:0007311 A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. MEDGEN:501212 OMIM:118300 DOID:0110153 Charcot Marie Tooth disease type 1E icd11.foundation:1924906594 UMLS:C3495591 GARD:0009190 Charcot-Marie-Tooth disease and deafness CMT 1E Orphanet:90658 Charcot-Marie-Tooth disease, type 1E CMT1E MESH:C537986 Charcot-Marie-Tooth disease type 1