has material basis in germline mutation in EGR2 Charcot-Marie-Tooth disease type 1D https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_1d https://www.malacards.org/card/charcot_marie_tooth_disease_type_1d CMT1D icd11.foundation:2062905967 Charcot Marie Tooth disease type 1D Orphanet:101084 MESH:C537985 GARD:0009189 MONDO:0011890 CMT 1D UMLS:C1843247 HMSN1D OMIM:607678 Charcot-Marie-Tooth disease, demyelinating, type 1D Charcot-Marie-Tooth disease, type 1D EGR2 Charcot-Marie-Tooth disease type 1 SCTID:719979008 hereditary motor and sensory neuropathy 1D A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. MEDGEN:334709 Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2 DOID:0110150 Charcot-Marie-Tooth disease type 1