DO_rare_slim has material basis in has phenotype existence starts during congenital hypomyelinating neuropathy GARD:0025794 UMLS_CUI:C0393818 MESH:C535301 disease_ontology DOID:0070678 UMLS_CUI:C0393818 GARD:0025794 MESH:C535301 SNOMEDCT_US_2025_09_01:230562000 A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination. MIM:PS605253 CHN MIM:PS605253 congenital hypomyelination neuropathy neuromuscular disease autosomal dominant inheritance autosomal recessive inheritance Infantile onset Neonatal onset Peripheral hypomyelination Fetal onset