Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2022

Primary information
ID	2022
Disorder	Adult Onset Ceroid lipofuscinosis, neurol, 13, Kufs type
Inheritance	Autosomal recessive
Organ Affected	Nervous System
Onset	Adult
Genotype-Phenotype Correlation	c.213+1G>C: KD type B associated with brain volume reduction, early periventricular and deep white matter hyperintensities and atrophy of corpus callosum. autosomal-recessive cognitive decline without visual failure, brain atrophy as well as periventricular white matter hyperintensities and thinning of the corpus callosum should alert clinicians to a possible diagnosis of CLN13
Refrences	26141065