has material basis in germline mutation in NDRG1 Charcot-Marie-Tooth disease type 4D https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4d https://www.malacards.org/card/charcot_marie_tooth_disease_type_4d_2 Orphanet:99950 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. Charcot-Marie-Tooth disease, type 4D Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1 HMSN4D MESH:C535716 NMSL NDRG1 Charcot-Marie-Tooth disease type 4 GARD:0003973 icd11.foundation:616686295 DOID:0110186 MEDGEN:371304 HMSNL hereditary motor ABD sensory neuropathy Lom type HMSN-Lom OMIM:601455 SCTID:715798007 hereditary motor and sensory neuropathy, Lom type MONDO:0011085 UMLS:C1832334 CMT4D HMSN, Lom type Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4