Charcot-Marie-Tooth disease type 4E https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy https://www.malacards.org/card/charcot_marie_tooth_disease_type_4 https://www.malacards.org/card/neuropathy_congenital_hypomyelinating_1_autosomal_recessive MESH:C535301 MEDGEN:1648303 neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive UMLS:C4721436 Neuropathy, Congenital Hypomyelination CMT4E GARD:0009203 CHN Orphanet:99951 neuropathy, congenital hypomyelinating Charcot-Marie-Tooth disease type 4E congenital hypomyelinating neuropathy (CHN) SCTID:763135001 hypomyelinating neuropathy, congenital, 1 DOID:0110195 autosomal recessive congenital hypomyelinating neuropathy CMT 4E OMIM:605253 icd11.foundation:225958466 congenital hypomyelination neuropathy CHN1 MONDO:0011527 Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. Charcot Marie Tooth disease type 4E NORD:1506 Charcot-Marie-Tooth disease type 4 neuropathy, congenital hypomelinating obsolete_Charcot-Marie-Tooth disease type 4E