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infantile neuronal ceroid lipofuscinosis 2 (Bielschowsky-Jansky type, CLN2)
Pathology:
- lipofuscinosis
- lipopigment pattern most consists of curvilinear profiles
Genetics:
- associated with defects in TPP1
Clinical manifestations:
1) mental retardation
2) visual impairment
3) seizures
4) myoclonus
Laboratory:
- TPP1 gene mutation
Related
chromosomal aberration
lipofuscin
General
infantile neuronal ceroid lipofuscinosis (INCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 204500
References
OMIM :accession 204500