disease arises from structure disease arises from alteration in structure 17p13.3 (Human) distal 17p13.3 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_17p133_microdeletion_syndrome GARD:0020776 distal del(17)(p13.3) MEDGEN:1643975 SCTID:764696007 Orphanet:261257 distal monosomy 17p13.3 Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. MONDO:0016839 UMLS:C4707092 chromosome 17p deletion