partial trisomy of the long arm of chromosome 9 non-distal trisomy 9q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/non_distal_trisomy_9q Orphanet:96112 SCTID:764997000 MONDO:0019890 GARD:0019323 non-telomeric trisomy 9q MEDGEN:1631139 UMLS:C4707261 Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. non-distal trisomy type 9q non-distal duplication 9q