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DGAP Case #
018
NIGMS CCR Cell Line #
Karotype
46,XX,ins(3;1)(q23;p22p32)
Age
1.5 yrs in 2000
Phenotypic Sex
female
Race
White (not of Hispanic origin)
Phenotype
Bilateral osseocutaneous syndactyly 3rd, 4th and 5th fingers. hypotonia, macrocephaly, forehead and occipital prominence, left inner thigh hemangioma, major developmental delay
PubMed Link
Detailed Summary
Contact Investigator
Cynthia Morton
Other Data
Fish Map