| umls-concept:C0268281 | skos:definition | MSH: This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins.,NCI: A very rare form of neuronal ceroid lipofuscinosis inherited in an autosomal recessive pattern. During the first six to eighteen months of life development is normal. Subsequently, patients develop developmental abnormalities in speech and motor skills, blindness, epilepsy, and seizures. | lld:umls |
