neuronal ceroid lipofuscinosis 10 (DOID:0110725)
Alliance: disease page
Synonyms: Cathepsin D deficiency; CLN10; neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Alt IDs: OMIM:610127, ICD10CM:E75.4, ORDO:228337
Definition: A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.