syndromic disease partial deletion of the long arm of chromosome 13 monosomy 13q34 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/monosomy_13q34 subtelomeric deletion 13q34 distal deletion 13q34 Orphanet:96168 UMLS:C4707797 Del(13)(q34) MEDGEN:1631901 monosomy type 13q34 SCTID:766716004 MONDO:0019902 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. GARD:0016847 obsolete_monosomy 13q34