Human genes for neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2 [DOID:0110726]
A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
Synonyms: neuronal ceroid lipofuscinosis 2, DOID:0110726, neuronal ceroid lipofuscinosis 2 variable age at onset