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DGAP Case # 006
NIGMS CCR Cell Line # GM04300
Karotype46,XX,t(1;2)(p32;q11)
Age7 yrs in 1980
Phenotypic Sexfemale
RaceAsian
PhenotypeMental retardation, developmental delay, cannot speak, aggresive, frontal bossing, epicanthal folds, left eye ptosis, low set ears, no binocular fixation searching movements
PubMed Link
Detailed Summary PDF
Contact Investigator James Gusella
Other Data Fish Map