PMP22-RAI1 contiguous gene duplication syndrome

MONDO:0014723

Also known as: 17p11.2p12 microduplication syndrome, YUHAL, Yuan-Harel-Lupski syndrome, dup(17)(p11.2p12), trisomy 17p11.2-p12, trisomy 17p11.2p12, YUAN-Harel-Lupski syndrome

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Broader categories

Disease (680) Hereditary disease (176) Syndromic disease (25) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by body system or component (0) Disease by etiologic mechanism (0)

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