hereditary disease polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive https://www.malacards.org/card/polyneuropathy_lethal_neonatal_axonal_sensorimotor_autosomal_recessive OMIM:604431 A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. MEDGEN:348918 MESH:C565773 UMLS:C1858353 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive Orphanet:538096 MONDO:0011463 GARD:0017976