disease arises from structure disease arises from alteration in structure 13q14 (Human) syndrome caused by partial chromosomal deletion syndromic disease chromosome 13q14 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/chromosome_13q14_deletion_syndrome NCIT:C36421 UMLS:C3151302 Orphanet:1587 Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. deletion 13q14 monosomy type 13q14 del(13q14) MONDO:0013481 OMIM:613884 chromosome 13q14 deletion syndrome, isolated cases MESH:C535484 chromosome 13q14 deletion syndrome DOID:0060391 MEDGEN:462652 Del(13)(q14) GARD:0016570 partial deletion of the long arm of chromosome 13 obsolete chromosomal anomaly with cataract