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Diseases List


Neuronal ceroid lipofuscinosis

Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus).

Associated Genes

Gene Name Chromosome number BMRB EntriesPDB Entries
PPT1 1 PDB Entries
CTSD 11 PDB Entries
TPP1 11 PDB Entries