disease arises from structure disease arises from alteration in structure 8p (Human) 8p inverted duplication/deletion syndrome https://github.com/monarch-initiative/mondo/issues/4272 https://www.malacards.org/card/8p_inverted_duplication_deletion_syndrome Orphanet:96092 MONDO:0019876 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. MEDGEN:906101 GARD:0019309 SCTID:718188007 inverted 8p duplication/deletion syndrome UMLS:C4273676 Invdupdel(8p) chromosome 8 disorder