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DGAP Case #
019
NIGMS CCR Cell Line #
GM01579
Karotype
46,XX,t(2;13)(p13;q32)
Age
35 yrs in 1976
Phenotypic Sex
female
Race
White (not of Hispanic origin)
Phenotype
Severe mental retardation, ambulatory without communication or even reaction to environment, dysmorphic features including hawk-like nose, small head, thin and dystrophic, long extremities and fingers.
PubMed Link
Detailed Summary
PDF
Contact Investigator
James Gusella
Other Data