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juvenile neuronal ceroid lipofuscinosis (Batten or Spielmeyer-Vogt-Sjogren type)
Genetics:
-> aberrant gene CLN3 (see OMIM)
Clinical manifestations:
1) visual impairment
2) seizures
3) psychosis
4) kyphoscoliosis
Related
chromosomal aberration
lipofuscin
General
juvenile neuronal ceroid lipofuscinosis (JNCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 204200
References
International Batten Disease Consortium Cell 82:949-57 1995