has material basis in germline mutation in EGR2 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 Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. MEDGEN:1648303 neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive Neuropathy, Congenital Hypomyelination CMT4E GARD:0009203 congenital hypomyelinating neuropathy (CHN) SCTID:763135001 congenital hypomyelination neuropathy 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. UMLS:C4721436 CHN Orphanet:99951 Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomyelinating hypomyelinating neuropathy, congenital, 1 DOID:0110195 autosomal recessive congenital hypomyelinating neuropathy CMT 4E OMIM:605253 icd11.foundation:225958466 CHN1 MONDO:0011527 Charcot Marie Tooth disease type 4E NORD:1506 Charcot-Marie-Tooth disease type 4 neuropathy, congenital hypomelinating