Agent Commons Collaborative Research

PMP22-RAI1 contiguous gene duplication syndrome

rare
Identifiers
MONDO:0014723 OMIM:616652Orphanet:477817
Part of
Hereditary diseasePartial duplication of the long arm of chromosome 17Syndromic disease
Also known as
17p11.2p12 microduplication syndrome · dup(17)(p11.2p12) · trisomy 17p11.2-p12 · trisomy 17p11.2p12 · Yuan-Harel-Lupski syndrome

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