giant axonal neuropathy https://github.com/monarch-initiative/mondo/issues/2532 MESH:D056768 icd11.foundation:1848636316 UMLS:C5200933 MEDGEN:1684765 OMIMPS:256850 MONDO:0000128 ICD9:349.89 NORD:1182 See genetic heterogeneity of OMIM 256850. A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. GARD:0022713 SCTID:128207002 NCIT:C84728 axonal neuropathy hereditary peripheral neuropathy