has material basis in germline mutation in RAI1 syndromic intellectual disability syndromic disease hereditary disease Potocki-Lupski syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9064 https://www.malacards.org/card/potocki_lupski_syndrome Duplication 17p11.2 syndrome MEDGEN:444010 Orphanet:1713 MONDO:0012574 17p11.2 microduplication syndrome Potocki-Lupski syndrome PTLS 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. Potocki-Lupski syndrome, Isolated cases trisomy 17p11.2 GARD:0010145 DECIPHER:19 UMLS:C2931246 icd11.foundation:1720095972 chromosome 17p11.2 duplication syndrome 17p11.2 Duplication syndrome DOID:0060853 OMIM:610883 Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) NCIT:C124846 SCTID:734016004 partial duplication of the short arm of chromosome 17