Gene: [11p15/CLN2] ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschovsky disease); amaurotic idiocy, late infantile; [LNCL LINCL ]

HET

Several types of hereditary ceroid-lipofuscinosis are known; see GEM:01p32/PPT."

REF

LIN,LOC,HET "Haines JL &: Am J Med Genet, 57, N2, 344-347, 1995
LIN,LOC "Sharp JD &: Hum Mol Genet, 6, N4, 591-595, 1997
LIN,LOC,HET "Sharp JD &: Am J Med Genet, 57, N2, 348-349, 1995
ASS,MUT "Sleat DE &: Science, 277, N5333, 1802-1805, 1997

KEY

neu, lip

CLA

unknown, basic

LOC

11 p15

MIM

MIM: 204500

SYN

LNCL LINCL