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DGAP Case # 056
NIGMS CCR Cell Line #
Karotype46,XY,t(2;13)(p24.1;q22.3)
Age33 yrs
Phenotypic Sexmale
RaceWhite (not of Hispanic origin)
PhenotypeBlepharophimosis, coloboma of upper eyelid, fundal coloboma (vs. desmoids), exotropia, profound bilateral sensorineural deafness, mitral valve prolapse, low set/posterior rotated ears
PubMed Link
Detailed Summary
Contact Investigator Cynthia Morton
Other Data Fish Map