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DGAP Case #
162
NIGMS CCR Cell Line #
Karotype
46,XX,(2;11)(p25.1;p15.1)
Age
9 years old
Phenotypic Sex
female
Race
White (not of Hispanic origin)
Phenotype
Severe developmental delay, occasional self-injurious behavior, seizures, partial agenesis of the corpus callosum and delayed myelination per MRI, biparietal disturbance/epileptic discharge in sleep by EEG.
PubMed Link
Detailed Summary
PDF
Contact Investigator
James Gusella
Other Data