infantile neuronal ceroid lipofuscinosis 1 (Hagberg-Santavuori type, CLN1)

Genetics

• mutation in gene for palmitoyl protein thioesterase-1

Clinical manifestations

• mental retardation
• speech loss
• minor motor seizures
• hypotonia
• ataxia
• myoclonic jerks
• microcephaly
• optic atrophy
• blindness
• premature death (8-11 years of age)

More general terms

• infantile neuronal ceroid lipofuscinosis (INCL)

Additional terms

• palmitoyl protein thioesterase 1; palmitoyl-protein hydrolase 1 (PPT1, PPT)

Database

• OMIM: https://mirror.omim.org/entry/256730
• OMIM: https://mirror.omim.org/entry/600722