" /> Autosomal Recessive Distal Hereditary Motor Neuronopathy 8 - CISMeF





Preferred Label : Autosomal Recessive Distal Hereditary Motor Neuronopathy 8;

NCIt synonyms : HMNR8; Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy; SORDD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SORD gene, encoding sorbitol dehydrogenase. It is characterized by distal muscle weakness mainly affecting the lower limbs.;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.