" /> 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;

Details


You can consult :


Nous contacter.
04/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.