Yuan-Harel-Lupski Syndrome (YUHAL)
Alias:
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
17p11.2p12 Microduplication Syndrome
Trisomy 17p11.2-P12
Trisomy 17p11.2p12
Dup(17)(p11.2p12)
Yuhal Syndrome
Yuhal
Yuan-Harel-Lupski Syndrome, also known as pmp22-rai1 contiguous gene duplication syndrome, is related to charcot-marie-tooth disease, demyelinating, type 1a and autism. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include spinal cord and heart, and related phenotypes are global developmental delay and delayed speech and language development
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