non-distal trisomy 10q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/non_distal_trisomy_10q MEDGEN:1664181 Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. UMLS:C4749376 Orphanet:1695 non-distal duplication 10q non-distal trisomy type 10q GARD:0018737 MONDO:0015712 non-telomeric trisomy 10q partial duplication of the long arm of chromosome 10 obsolete chromosomal anomaly with cataract