Condition: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY


rs1057519591 in CTSD gene and NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY PMID 16685649 2006 Cathepsin D deficiency is associated with a human neurodegenerative disorder.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 16670177 2006 Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.