has material basis in germline mutation in KIF1B Charcot-Marie-Tooth disease type 2A1 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_type_2a1 https://www.malacards.org/card/charcot_marie_tooth_disease_type_2a1_2 Charcot-Marie-Tooth disease, axonal, type 2A1 MONDO:0007308 Charcot-Marie-Tooth disease, type 2A1 Orphanet:99946 HMSN2A1 Charcot-Marie-Tooth disease type 2A1 NCIT:C134952 DOID:0110154 HMSN IIA icd11.foundation:2087067372 CMT2A1 NCIT:C150609 MESH:C566138 CMT2A Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B HMSN IIA1 Charcot Marie Tooth disease type 2A OMIM:118210 hereditary motor and sensory neuropathy 2 A Charcot-Marie-Tooth disease, axonal, type 2A Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. Charcot-Marie-Tooth disease, neuronal, type 2A CMT 2A UMLS:C1861678 Charcot-Marie-Tooth disease type 2A KIF1B Charcot-Marie-Tooth disease type 2 GARD:0001248 hereditary motor and sensory neuropathy IIA1 SCTID:717016001 MEDGEN:350076 Charcot-Marie-Tooth disease type 2