DGDP #
130
Gender
M
Year of Birth
2004
Karyotype
inv(X)(q27q28)
Phenotype Multiple congenital anomalies, hyperpigmentation of breast area, acanthosis of axillae bilaterally, left testicle larger than right, developmental delay, central nerve system dysfunction, deep set eyes, long large ears, anteverted nares, tapered fingers, gynecomastia, obesity, absent teeth and severe tooth decay
Notes N/A
LBL
Yes
DNA
Yes