Term Name: | Potocki-Lupski syndrome |
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Synonyms: | 17p11.2 microduplication syndrome, chromosome 17p11.2 duplication syndrome, trisomy 17p11.2 |
Definition: | A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. |
Ontology: | Human Disease [DOID:0060853] ( DOID:0060853 ) |