eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ceroid storage disease |
| Comorbidity | C0035229|respiratory insufficiency |
| Sentences | 1 |
| PubMedID- 20388210 | Cathepsin d homozygous inactivation in humans causes congenital neuronal ceroid lipofuscinosis (ncl) with postnatal respiratory insufficiency, status epilepticus, and death within hours to weeks after birth [138]. |
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