neuronal ceroid lipofuscinosis 10

info · Genetic · ICD-10: E75.4

A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.

Signs and symptoms

Cerebellar atrophy
Ataxia
Severe intellectual disability
Rod-cone dystrophy
Mental deterioration
Retinal atrophy
Cerebral atrophy
Apnea
Seizure
Microcephaly

Also known as: CLN10; Cathepsin D deficiency; neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency