has material basis in germline mutation in AIFM1 Charcot-Marie-Tooth disease X-linked recessive 4 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/charcot_marie_tooth_disease_x_linked_recessive_4_with_or_without_cerebellar_ataxia SCTID:763400005 Orphanet:101078 COWCK X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. Charcot-Marie-Tooth disease, X-linked recessive, 4 OMIM:310490 axonal motor sensory neuropathy with deafness and intellectual disability Charcot-Marie-Tooth disease with deafness and mental retardation Charcot-Marie-Tooth disease with deafness and intellectual disability NAMSD MONDO:0010689 GARD:0001240 Charcot-Marie-Tooth disease X-linked recessive type 4 NADMR UMLS:C0795910 Cowchock syndrome, X-linked recessive CMTX 4 X-linked Charcot-Marie-Tooth disease type 4 neuropathy, axonal motor-sensory with deafness and intellectual disability neuropathy, axonal motor-sensory, with deafness and mental retardation cowchock syndrome CMTX4 MEDGEN:162891 DOID:0110212 neuropathy, axonal motor-sensory with deafness and mental retardation CMT4X Charcot-Marie-Tooth disease type X