- Y chromosome infertility
- Y chromosome-related azoospermia, see Y chromosome infertility
- Yakut short stature syndrome, see 3-M syndrome
- Yao syndrome
- YAOS, see Yao syndrome
- young-onset dystonia-(parkinsonism), see Dystonia 16
- Young-Simpson syndrome, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- Yuan-Harel-Lupski syndrome
- YUHAL syndrome, see Yuan-Harel-Lupski syndrome
- YY syndrome, see 47,XYY syndrome
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