" /> Intellectual developmental disorder, autosomal recessive 5 - CISMeF





Preferred Label : Intellectual developmental disorder, autosomal recessive 5;

Symbol : MRT5;

CISMeF acronym : MRT5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NOL1/NOP2/SUN domain family, member 2 gene NSUN2 (610916.0001);

Laboratory abnormalities : Increased serum lactate dehydrogenase (in 1 family); Increased serum creatine kinase (1 family);

Prefixed ID : #611091;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

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