distal trisomy 13q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_13q telomeric duplication 13q GARD:0019319 Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. UMLS:C4706933 MEDGEN:1639680 trisomy 13qter SCTID:764454003 distal duplication 13q MONDO:0019886 Orphanet:96105 distal trisomy type 13q chromosome 13q trisomy