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DGAP Case # 196
NIGMS CCR Cell Line #
Karotype46,XY,t(2;6)(q32.3;q25.3)
Age2y4m
Phenotypic Sexmale
RaceWhite (not of Hispanic origin)
Phenotypegrowth delay, developmental delay, hypotonia, oral-motor issues and hypersensitivity, speech and language delay
PubMed Link
Detailed Summary PDF
Contact Investigator James Gusella
Other Data