Balanced rearrangement and structural marker, unspecified
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Q96 Turner’s syndrome Notes: Karyotype 46, isochromosome Xq ; Karyotype 46, X with abnormal sex chromosome, except isochromo…
Turner's syndrome Notes: Karyotype 46, isochromosome Xq ; Karyotype 46, X with abnormal sex chromosome, except isochromosome Xq ; Noonan syndrome (Q87.19)
Q98.0 Klinefelter syndrome karyotype 47, XXY
Klinefelter syndrome karyotype 47, XXY
Q77.1 Thanatophoric short stature
Thanatophoric short stature
Q78.6 Multiple congenital exostoses Notes: Diaphyseal aclasis
Multiple congenital exostoses Notes: Diaphyseal aclasis
Q79.63 Vascular Ehlers-Danlos syndrome Notes: Vascular EDS (vEDS)
Vascular Ehlers-Danlos syndrome Notes: Vascular EDS (vEDS)
Q81.8 Other epidermolysis bullosa
Other epidermolysis bullosa