has material basis in germline mutation in MFN2 Charcot-Marie-Tooth disease type 2A2 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_autosomal_dominant_type_2a2a https://www.malacards.org/card/charcot_marie_tooth_disease_type_2a2a DOID:0110155 SCTID:764850002 MONDO:0012231 icd11.foundation:1274363794 UMLS:C4721887 MEDGEN:1648317 Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2 CMT2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. NCIT:C150646 OMIM:609260 HMSN2A2 hereditary motor and sensory neuropathy IIA2 MFN2 Charcot-Marie-Tooth disease type 2 GARD:0016925 Charcot-Marie-Tooth disease, axonal, type 2A2A Charcot-Marie-Tooth disease, axonal, type 2A2 HMSN IIA2 CMT2A2A Charcot-Marie-Tooth disease type 2A2A Orphanet:99947 MESH:C563757 Charcot-Marie-Tooth disease type 2