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DGAP Case # 142
NIGMS CCR Cell Line #
Karotype46,XY,t(2;22)(q23;q13)
Age14 years old
Phenotypic Sexmale
RaceWhite (not of Hispanic origin)
PhenotypeMild developmental delay (combined language and motor delay), pervasive developmental disorder (non-verbal learning disability), encopresis, history of seizures (normal EEG 06/00, 04/95, occasional episodes only).
PubMed Link
Detailed Summary PDF
Contact Investigator James Gusella
Other Data