distal monosomy 17q https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_17q distal 17q deletion Orphanet:1597 SCTID:715365000 telomeric deletion 17q MONDO:0015562 monosomy 17qter MEDGEN:895716 Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). chromosome 17q deletion 17q deletion 17q monosomy GARD:0010972 UMLS:C4275171 monosomy 17q distal monosomy type 17q partial monosomy 17q deletion 17q partial deletion of the long arm of chromosome 17