3p- syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_3pter_p25_deletion_syndrome chromosome 3, monosomy 3p25 del(3p25) NORD:951 distal monosomy type 3p SCTID:763528002 NCIT:C41377 OMIM:613792 3p deletion deletion 3p monosomy 3p Del(3p) syndrome GARD:0003750 3p- syndrome Orphanet:1620 distal 3p deletion MEDGEN:1643555 deletion 3p25 DOID:0060417 distal monosomy 3p chromosome 3pter-p25 deletion syndrome telomeric monosomy 3p MONDO:0013424 monosomy 3pter chromosome 3p deletion 3p monosomy Chromosome 3, Monosomy 3p chromosome 3p- syndrome UMLS:C4706503 MESH:C536804 partial monosomy 3p Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. partial deletion of the short arm of chromosome 3 blepharophimosis - intellectual disability syndrome