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infantile neuronal ceroid lipofuscinosis 1 (Hagberg-Santavuori type, CLN1)
Genetics:
-> mutation in gene for palmitoyl protein thioesterase-1
Clinical manifestations:
1) mental retardation
2) speech loss
3) minor motor seizures
4) hypotonia
5) ataxia
6) myoclonic jerks
7) microcephaly
8) optic atrophy
9) blindness
10) premature death (8-11 years of age)
Related
chromosomal aberration
lipofuscin
palmitoyl protein thioesterase 1; palmitoyl-protein hydrolase 1 (PPT1, PPT)
General
infantile neuronal ceroid lipofuscinosis (INCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM correlations