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Summary Literature (0)
DOID:0060853 - Potocki-Lupski syndrome

Disease Ontology Definition:A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.

Synonyms: 17p11.2 microduplication syndrome, chromosome 17p11.2 duplication syndrome, trisomy 17p11.2,

Xenbase Genes : flcn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012574 - Potocki-Lupski syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal duplication syndrome (is_a)