disease arises from structure disease arises from alteration in structure 9q21.13 (Human) syndrome caused by partial chromosomal deletion partial deletion of chromosome 9 9q21.13 microdeletion syndrome https://www.malacards.org/card/9q2113_microdeletion_syndrome MONDO:0035173 A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. GARD:0022212 MEDGEN:1803709 Orphanet:531151 ICD10CM:F78.1 UMLS:C5681312