" /> Ceroid lipofuscinosis, neuronal, 11 - CISMeF





Preferred Label : Ceroid lipofuscinosis, neuronal, 11;

Symbol : CLN11;

CISMeF acronym : CLN11;

Type : Phenotype, molecular basis known;

Description : Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the granulin precursor gene (GRN, 138945.0015);

Laboratory abnormalities : 'Fingerprint' profiles ultrastructurally;

Prefixed ID : #614706;

Détails


Vous pouvez consulter :


Nous contacter.
25/07/2025


[Accueil] [Haut de page]

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