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DGAP Case #
166
NIGMS CCR Cell Line #
Karotype
46,XX,inv(2)(p23q31)
Age
4.5 years
Phenotypic Sex
female
Race
White (not of Hispanic origin)
Phenotype
Seizure disorder, developmental delay, particularly in language, microcephaly, slight bilateral epicanthal folds, nose slightly up turned with a thin upper lip with slightly up turned corners of the mouth, very mild micrognathia.
PubMed Link
Detailed Summary
PDF
Contact Investigator
James Gusella
Other Data