syndromic disease distal monosomy 13q https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/anal_atresia_hypospadias_and_penoscrotal_inversion https://www.malacards.org/card/distal_monosomy_13q OMIM:602553 MONDO:0011248 telomeric deletion13q deletion 13q32 Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. GARD:0016571 MESH:C566526 distal monosomy type 13q UMLS:C1865208 monosomy 13q32 SCTID:763527007 13q32 deletion distal 13q deletion Orphanet:1590 MEDGEN:355405 partial deletion of the long arm of chromosome 13 obsolete chromosomal anomaly with cataract