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).
| Gene Name | Chromosome number |
|---|---|
| PPT1 | 1 |
| CTSD | 11 |
| TPP1 | 11 |