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DGAP Case # 170
NIGMS CCR Cell Line #
Karotype46,XX,t(1;19)(p34.1;p13.1)
Age12 years
Phenotypic Sexfemale
RaceWhite (not of Hispanic origin)
PhenotypeGeneralized epilepsy, developmental delay, behavioral problems, fluctuating ataxia, multiple fractures from frequent falls but no evidence of brittle bone disease, EEG/MRS demonstrating relatively alkaline cerebellum.
PubMed Link
Detailed Summary PDF
Contact Investigator James Gusella
Other Data