chromosome 9p deletion syndrome distal monosomy 9p https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_9p monosomy 9pter MEDGEN:539240 Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. distal deletion 9p telomeric deletion 9p MONDO:0015605 UMLS:C0265425 MESH:C538025 GARD:0018732 Orphanet:1642 SCTID:763530000 distal monosomy type 9p 46 XY differences of sex development