polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
Findings
No curated finding names polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011463), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of